THE UTILITY OF EMBRYOFETO-PATHOLOGY FOLLOWING SURGICAL TERMINATIONS OF PREGNANCY
by
ROBERT TOD LENARD MACPHERSON
B.Sc., The University of British Columbia, 1992
A THESIS SUBMITTED IN PARTIAL FULFILMENT OF THE REQUIREMENTS FOR THE DEGREE OF
MASTER OF SCIENCE
in
THE FACULTY OF GRADUATE STUDIES
(Medical Genetics Graduate Programme, Department of Medical Genetics)
We accept this thesis as conforming to the required standard
THE UNIVERSITY OF BRITISH COLUMBIA
December 1997
® Robert Tod Lenard MacPherson, 1997 In presenting this thesis in partial fulfilment of the requirements for an advanced degree at the University of British Columbia, I agree that the Library shall make it freely available for reference and study. I further agree that permission for extensive copying of this thesis for scholarly purposes may be granted by the head of my department or by his or her representatives. It is understood that copying or publication of this thesis for financial gain shall not be allowed without my written permission.
Department
The University of British Columbia Vancouver, Canada
DE-6 (2/88) Abstract
Embryofeto-pathology examination findings for 521 consecutive pregnancy terminations for fetal abnormalities were compared on the basis of method of termination, results of prenatal cytogenetic investigations, and gestational age at termination. Comparisons were undertaken to ascertain if, as generally assumed, the amenability of the products of conception to embryofeto-pathological examination is less following pregnancy termination by surgical means than following termination by induction.
Embryofeto-pathological examination provided a diagnosis that could be used for genetic counseling 42.2 (95% C.I. = 5.45 - 327.04) times more often following termination by induction, as compared to termination by surgical procedures.
Pregnancy termination was performed by surgical procedure 2.17
(95% C.I. = 1.39- 3.39; P = 0.0006) times more often when the fetus was identified prenatally to be karyotypically abnormal and 0.72 (95% C.I. = 0.66
- 0.78; P < 0.0001) times less often with each one week increase in the estimated gestational age at termination between 10 and 24 weeks.
Among terminated pregnancies with specific ultrasound diagnosed fetal abnormalities, the ability to evaluate ultrasound-identified fetal abdominal wall defects was 30.60 (95% C.I. = 1.63 - 575.84; P = 0.00107) and cystic hygroma was 146.18 (95% C.I. = 7.97 - 2680.93; P < 0.00001) times less likely at autopsy following surgical termination procedures as compared to terminations by induction. The ability to evaluate ultrasound identified fetal anencephaly 8.91 (95% C.I. = 0.39 - 202.07; P = 0.15), cystic kidney disease
(odds ratio N/A, P = N/A), diaphragm defects 19.00 (95% C.I. = 0.83 - 434.47;
P = 0.03), fetal hydrops 9.00 (95% C.I. = 0.45 - 178.12; P = 0.13), and structural heart defects 21.00 (95% C.I. = 1.08 - 409.15; P=0.01) times less likely following surgical termination procedures as compared to terminations by induction. As multiple tests were performed on the data, a critical P value of 0.00385 was used to test for significance. The trend in each case was for surgical termination to be informative less frequently than medical termination.
Among pregnancies terminated with any prenatally diagnosed fetal abnormality, the ability to evaluate the CNS tissue was 36.20 (95% C.I. =
21.77 - 60.19; p<0.00001), heart was 16.76 (95% C.I. = 5.18 - 54.24; pO.OOOOl) and kidneys was 5.04 (95% C.I. = 1.74 - 14.61; p=0.0005) times less likely at autopsy following surgical pregnancy termination procedures, as compared to termination by induction. The ability to evaluate the CNS tissue, heart and kidneys at autopsy following surgical termination procedures were found to be 1.26 (95% C.I. = 1.1 - 1.44; P = 0.0008), 1.19
(95% C.I. = 1.07 - 1.32; P = 0.0012) and 1.35 (95% C.I. = 1.15 - 1. 58; P =
0.0001) times, respectively, more likely for each one week increase in the estimated gestational age at termination.
The results of these comparisons confirm that the amenability of the products of conception to embryofeto-pathological examination is reduced following surgical termination procedures, as compared to medical termination procedures. This may have important clinical implications for women considering pregnancy termination following ultrasound diagnosis of fetal abnormalities. V
Table of Contents
Page
Abstract ii
Table of Contents v
List of Tables x
List of Figures xi
Acknowledgments xii
Chapter 1 Introduction 1
1.1 Overview of Prenatal Diagnosis 1
1.1.1 Accuracy Measures of Prenatal Diagnosis 2
1.2 Maternal Serum Triple Screening 2
1.3 Cytogenetic Investigations 4
1.3.1 Chorionic Villus Sampling 5
1.3.2 Amniocentesis 6
1.3.3 Cordocentesis 8
1.4 Overview of Ultrasonography 9
1.4.1 Accuracy of Ultrasonography 13
1.4.2 Ultrasound Markers of Aneuploidy 15
1.4.3 Ultrasound Detection of Anencephaly 18
1.4.4 Ultrasound Detection of Abdominal Wall Defects 18
1.4.5 Ultrasound Detection of Congenital Heart Defects 20
1.4.6 Ultrasound Detection of Cystic Hygroma 21
1.4.7 Ultrasound Detection of Cystic Kidneys 22 vi
1.4.8 Ultrasound Detection of Diaphragmatic Defects 23
1.4.9 Ultrasound Detection of Fetal Hydrops 24
1.5 Overview of Pregnancy Termination 25
1.5.1 Overview of Medical Termination Procedures 26
1.5.1.1 Advantages and Disadvantages of
Medical Terminations 26
1.5.2 Overview of Surgical Termination Procedures 27
1.5.2.1 Dilatation of the Cervix 27
1.5.2.2 Disruption of the Fetus 29
1.5.2.3 Advantages and Disadvantages of
Surgical Terminations 29
1.6 Overview of Fetal Pathology 30
1.6.1 Overview of the Autopsy Examination 30
1.6.2 Overview of Congenital Abnormalities 31
1.6.2.1 Classification of Fetal Abnormalities 31
1.6.3 Etiology of Fetal Abnormalities 32
1.7 Overview of Genetic Counseling 33
1.7.1 Recurrence Risks 34
1.8 Aims of the Study 3 5
Chapter 2 Methods and Subjects 38
2.1 Ascertainment of Subjects 38
2.2 Sources of Data 39
2.2.1 Maternal Information 39 vii
2.2.2 Ultrasound Information 39
2.2.3 Autopsy Information 40
2.2.4 Cytogenetics Information 40
2.3 Database Construction 41
2.4 Data Coding 41
2.5 Analysis 42
2.5.1 Ability to Make a Final Diagnosis at Autopsy 42
2.5.2 Method of Pregnancy Termination 43
2.5.3 Tissues Examined at Autopsy 44
2.5.4 CNS, Heart and Kidneys Evaluated at Autopsy 47
2.6 Statistical Analysis 48
2.6.1 Chi Square Test 48
2.6.2 Fisher's Exact Test 50
2.6.3 Multiple Logistic Regression 51
2.6.3.1 Evaluation of Multiple Logistic
Regression 54
2.6.4 Odds Ratios 56
2.6.5 Significance Levels 57
2.7 Ethical Review 58
Chapter 3 Results 60
3.1 Sample Analyzed 60
3.2 Sample for Method of Termination Analysis 60
3.3 Diagnosis Based on Autopsy Analysis 62 viii
3.4 Specific Tissue Examined At Autopsy Analysis 63
3.5 Evaluation of CNS, Heart, Kidney at Autopsy Analysis 68
3.6 Results of the Strength of Relationships Analysis 71
Chapter 4 Discussion 77
4.1 Population of Cases 77
4.2 Diagnosis Based on Autopsy Findings 79
4.3 Method of Termination 82
4.4 Specific Fetal Tissues Evaluated at Autopsy 87
4.5 CNS, Heart, and Kidneys Evaluated at Autopsy 94
Chapter 5 Conclusion 99
Reference 102
Appendix I 111
Appendix II 112
Appendix III 147
Appendix IV 196
Appendix V 204
Appendix VI 205 ix
List of Tables
From Chapter 1 - Introduction
Table 1.1 Ultrasound Markers of Trisomy 21 17
Table 1.2 Ultrasound Markers of Trisomy 13 17
Table 1.3 Ultrasound Markers of Trisomy 18 17
Table 1.4 Markers of Chromosomal Aneuploidy 17
Table 1.5 Disorders Associated With Nonimmune Hydrops Fetalis 24
Table 1.6 Recommendations For Cervical Dilatation 28
From Chapter 2 - Methods and Subjects
Table 2.1 Case Subgroups Used in Analysis 45
Table 2.2 Sample 2X2 Contingency Table 48
Table 2.3 Response Variables Used in Logistic Regression 53
From Chapter 3 - Results
Table 3.1 Results of Cytogenetic Investigations 61
Table 3.2 Distribution of Method of Termination By Prenatal Cytogenetic Results 62 '
Table 3.3 Distribution of Cases With Diagnosis Based on Autopsy Findings 63
Table 3.4 Distribution of the Cases Terminated with Specific Ultrasound-Identified or -Suspected Fetal Abnormalities 65
Table 3.5 Distribution of Surgically Terminated Cases with Specific Ultrasound-Identified or -Suspected Fetal Abnormalities By The Results of Prenatal Cytogenetic Investigations 67 X
Table 3.6 Distribution of Surgically Terminated Cases with Specific Ultrasound-Identified or -Suspected Fetal Abnormalities By The Estimated Gestational Age at Termination 68
Table 3.7 Distribution of Cases with CNS Tissue, Heart, and Kidney Exam At Autopsy By The Method of Termination 70
Table 3.8 Distribution of Surgically Terminated Cases with CNS Tissue, Heart, or Kidney Exam at Autopsy By The Prenatal Cytogenetic Results 71
Table 3.9 Results of Multiple Logistic Regression Analysis - Part A 73
Table 3.10 Results of Multiple Logistic Regression Analysis - Part B 76 List of Figures
Figure 2.1 Relationships Analyzed in Logistic Regression 53
Figure 3.1 Distribution of Method of Termination By Estimated Gestational Age at Termination 62 Figure 3.2 Distribution of Surgically Terminated Cases Against the Estimated Gestational Age at Termination 72 Acknowledgments
I would like to thank my supervisor, Dr. B. McGillivray, without whose guidance and continuous encouragement this project would not have been possible.
I would also like to express my gratitude to the members of my thesis committee, Dr. J.M. Friedman, Dr. R.D. Wilson, and Dr. M. Harris, for their counsel and support throughout the duration of my master's project.
Useful discussions with Dr. D. McFadden, were greatly appreciated.
My sincere thanks are also extended to the staff at the Provincial Medical
Genetics Programme, for their patience and support for the past year.
I am grateful to all my friends and family for their interest in my research and their confidence in my abilities. 1
1 Introduction "Felix qui potuit rerum cognoscere causas." Lucky is he who could understand the causes of things.
Prenatal diagnosis, embryofeto-pathology, and genetic counseling are health care services available to meet the reproductive needs of families. The ability to detect fetal abnormalities in the prenatal period through the use of ultrasonographic, biochemical, molecular, and cytogenetic investigations presents families with a number of choices: to continue the pregnancy without further investigations; to undergo further invasive diagnostic investigations; to undergo invasive interventions; and to terminate the pregnancy. Such decisions are often made under uncertainty - without the benefit of complete or unambiguous information pertaining to fetal abnormalities. Future reproductive planning and genetic counseling following the outcome of an abnormal pregnancy are based on an understanding of the etiology of fetal abnormalities, achieved through antenatal and postnatal investigations.
1.1 Overview of Prenatal Diagnosis
A severe fetal abnormality or chromosomal anomaly in a fetus/neonate may be a tragedy for the parents and is costly to society as a whole. The prevalence of chromosomal anomalies and severe structural malformations apparent at birth are 0.2% and 2.7%, respectively (Baird et al., 1988). As most parents are not known to be at increased risk, it is usually not possible to predict which neonates will be born with abnormalities. The detection of 2 fetal abnormalities at a stage of pregnancy which gives parents the opportunity to chose between continuing with the affected pregnancy or terminating the pregnancy is an important aspect of obstetrical care.
1.1.1 Accuracy Measures of Prenatal Diagnosis
Safety and accuracy are two critical factors which determine the value of prenatal diagnosis. Ideally, prenatal diagnostic procedures should be safe for both the mother and the fetus. Prenatal diagnostic procedures should also be highly accurate as they form the basis of decisions to continue or to terminate pregnancies. Several measures may be used in describing the accuracy of prenatal diagnosis. Sensitivity is a measure of the proportion of affected fetuses that are found to be abnormal by prenatal diagnostic procedures. Specificity is a measure of the proportion of normal fetuses that are found to be normal by prenatal diagnostic procedures. Positive predictive value is a measure of the proportion of fetuses with abnormal prenatal diagnostic screening that really are abnormal. Negative predictive value is a measure of the proportion of fetuses with normal prenatal screening that really are normal.
1.2 Maternal Serum Triple Screening
Three approaches to screening for fetal abnormalities in the fetus during the first or second trimester are commonly practiced. Maternal serum screening programmes for biochemical markers indicative of increased risk of fetal structural malformations and chromosomal abnormalities have been 3 developed. This means of surveillance is safe for both the mother and fetus.
At present, triple marker screening refers to the measurement of three proteins in maternal serum: a-fetoprotein (AFP), a glycoprotein produced by the yolk sac and fetal liver; human chorionic gonadotrophin (hCG), a glycoprotein hormone produced by the placenta; and unconjugated estriol
(UE3), a steroid hormone produced by the placenta. Each of these proteins has been identified to be an independent marker of chromosomally abnormal pregnancies. Low levels of AFP (DiMaio et al., 1987) and UE3 (Wald et al.,
1988), as well as high levels of hCG (Bogart et al., 1987), are associated with fetal Down syndrome, whereas high levels of AFP are associated with open neural tube defects and with other structural fetal malformations such as renal abnormalities, abdominal wall defects, and duodenal or esophageal atresia (Brock et al., 1972; Thomas and Blakemore, 1990).
Utilization of an algorithm which considers maternal age, weight and race; an accurate estimation of gestational age by last menstrual period or ultrasound parameters; and concentrations of the markers provide an estimate of the risk of chromosomal aneuploidy and neural tube defects
(Phillips et al., 1992). Results of triple screening are reported as multiples of the median (MoM) for each gestational age. Threshold values for MoM of these markers is a reflection of the sensitivity and specificity of the screening test. Threshold values are set so as to identify a large proportion of abnormal fetuses (true positives) and to minimize the number of women identified with abnormal screening values and normal fetuses (false positives).
A physiological explanation for alterations of the concentrations of the marker proteins in abnormal pregnancies is not known but may be related to aberrant placental, fetal liver or fetal adrenal gland function (Coulson, et al.,
1996). A positive triple screen for Down syndrome or an open neural tube defect is an indication for ultrasound screening which may detect other causes of altered marker protein levels including errors in gestational dating, multiple gestations, or missed abortions. Women should be informed that triple screening is not a diagnostic test, but provides only an estimate of risk for fetal abnormalities. Women with a positive triple screen result confirmed by ultrasound dating should be offered amniocentesis for definitive fetal karyotyping or detailed ultrasound for fetal structural abnormalities.
1.3 Cytogenetic Investigations
Cytogenetic, biochemical, and molecular genetic investigations may be performed on cells obtained from chorionic villus sampling (CVS), amniocentesis, and fetal blood sampling. Common indications for performance of the above invasive procedures include maternal age of 35 years or above at term, previous live or stillborn infant with chromosomal abnormality, abnormal triple screening results with increased risk of chromosomal abnormalities, or a fetal abnormality detected by prenatal ultrasonography which has an increased risk of chromosomal, biochemical or 5 molecular fetal abnormalities. Cytogenetic analysis involves several steps including obtaining cells for analysis, culturing cells, and banding chromosomes for karyotyping. While not 100% accurate, the accuracy of CVS has been reported to be 99.6% (Ledbetter, et al., 1990) and the accuracies of early amniocentesis and midtrimester amniocentesis have been reported to be 97.6% and 99.7%, respectively (Johnson, et al., 1996). In most circumstances, cytogenetic analysis is able to yield unequivocal results of karyotypic normality or abnormality such as for aneuploidy or large structural rearrangements. Smaller structural rearrangements or deletions may not be identified.
1.3.1 Chorionic Villus Sampling
Chorionic villus sampling is a first trimester procedure for obtaining cells for cytogenetic, biochemical, or molecular analysis. Chorionic villi are finger-like projections surrounding the embryonic sac at an early gestational age. These extraembryonic cells are derived from the fertilized oocyte; thus sampling of the chorionic villi is suitable for evaluating the chromosome complement of the fetus. CVS is best performed between 10 and 12 weeks of gestation, enabling results to be available at an early gestational age. This permits options such as therapeutic abortion in the event that a fetal abnormality is detected. Historically, CVS was first attempted by
Hahnemann and Mohr in 1968 using an endoscope in a transcervical approach to sample the chorion. Today, two approaches to CVS are 6 commonly practiced - ultrasound guided transcervical and transabdominal procedures. The pregnancy loss rate (spontaneous losses and induced abortions) following CVS has been found to be 0.6% higher (although not significantly different) than the pregnancy loss rate following amniocentesis,
7.6% vs. 7.0% respectively in a randomized study design (Canadian
Collaborative..., 1989).
Tissue obtained from CVS procedures may be subjected to direct (1 day of culture), short-term (4 days of culture) and long-term culture ( about 9 days of culture) techniques (Smith, 1995). The chorionic villus is composed of two layers, the mesenchymal core and the outer cytotrophoblast. The cytotrophoblast derived cells will yield mitoses for karyotyping by both direct and short-term culture, while long-term culture is required to produce mitoses from mesenchymal core cells.
One biological confounder for CVS is confined placental mosaicism, defined as a discordance between the chromosomal complement of the placenta and the embryo/fetus. It has been identified by CVS in 1% to 2% of viable pregnancies (Ledbetter, et al., 1991; Wang, et al., 1994). Follow-up by amniocentesis is usually performed following the identification by CVS of mosaic aneuploidies (E.g. trisomies 13, 16, 18, 21, and 22).
1.3.2 Amniocentesis
Amniocentesis involves the extraction of fluid from the amniotic sac.
Amniotic fluid contains fetal cells (amniocytes) that are derived from fetal 7 skin, amnion, and the gastrointestinal, urinary and respiratory tracts. In the mid 1960's it was recognized that the fetal cells obtained from amniotic fluid were suitable for cytogenetic evaluation (Steele and Berg, 1966). The procedure, which involves the insertion of a needle into the amniotic sac, was originally performed after palpation to determine the position of the fetus and auscultation to determine the position of the placenta. Today, needle insertion is generally performed under ultrasound guidance, thus enabling the identification of pockets of amniotic fluid suitable for sampling and the avoidance of fetal injury. The amniotic fluid sample may be subjected to a variety of investigations other than cytogenetic analysis, including molecular
DNA analysis, immunological studies and biochemical assays.
Amniocentesis is traditionally performed between 15 and 18 weeks of gestation, although the feasibility of early amniocentesis at 11 to 15 weeks of gestation is currently under investigation in a number of centers (Nicolaides, et al., 1994; Brumfield, et al., 1996; Wilson, et al., 1996). The primary safety concern regarding amniocentesis is the risk of pregnancy loss and fetal abnormalities. Occasionally, other complications, such as infection causing amnionitis or leakage of amniotic fluid, may occur. The amniocentesis procedure-related pregnancy loss rate is thought to be approximately 0.5%.
As a consequence of the procedure related pregnancy loss rate, amniocentesis is usually offered to women aged 35 or above at parturition, or to women with other indications as mentioned above. At a maternal age of 35 or above at 8 parturition, the risk of procedure related pregnancy loss and the overall risk of any chromosomal abnormality are approximately equal.
1.3.3 Cordocentesis
Cordocentesis, also known as percutaneous umbilical blood sampling
(PUBS), is a procedure in which blood is sampled directly from the fetal umbilical cord. Cordocentesis was first described in 1982 by Bang and associates. The procedure involves insertion of a needle, under ultrasound guidance, into an umbilical vessel and the drawing out of a sample of blood.
Ultrasound guidance allows the needle to be visualized as it passes through the abdomen and uterus and to be directed to the insertion site, which may be at the umbilical insertion site of the placenta, in free loops of umbilical cord or in the fetal hepatic vein. Confirmation of the fetal origin of the blood sample may be performed by Kleihauer-Betke tests or by measuring red blood cell indices.
Investigations performed on cordocentesis blood samples include rapid cytogenetic analysis, diagnosis of fetal infections, biochemical investigations, appraisal of fetal hydrops, metabolic investigations and blood gas status.
Cytogenetic analysis on cultured lymphocytes from fetal blood may be performed in 48 to 72 hours. Assessment and treatment (by intravascular transfusion) of fetal rhesus haemolytic disease are also made possible by cordocentesis. 9
Cordocentesis carries a high risk for procedure-related loss, especially in the growth retarded fetus. Consequently, its use is usually limited to pregnancies that have been found by other investigations to be at high risk.
Cordocentesis is usually performed following 18 weeks of gestation; however, earlier cordocentesis (from 12 weeks of gestation on) has been reported
(Orlandi, et al., 1990). Early gestational age at the time of the procedure is associated with an increased rate of pregnancy loss. At gestational ages of 12 to 14, 15 to 16 and 17 to 18 weeks, fetal losses were found to be 4.8%, 5.7% and 5.2%, respectively (Orlandi, et al., 1990). Procedures performed on fetuses with known anomalies or growth retardation have been found to have an increased risk of procedure related pregnancy loss compared with procedures performed on fetuses with normal anatomy, 7% and 1% respectively (Maxwell, et al., 1991; Wilson, et al., 1994). Longer procedure time and unfavorable position of the placenta have also been reported with an increased risk of procedure related pregnancy loss (Orlandi, et al., 1990).
From a retrospective review of 214 cordocenteses at B.C.'s Women's Hospital, the cordocentesis procedure related loss rate was observed to be 2.75%
(Wilson, et al., 1994).
1.4 Overview of Ultrasonography
Prenatal ultrasonagraphy, once thought useful primarily for the determination of gestational age and the identification of multiple gestations and fetal positioning, now plays many roles in prenatal diagnosis. Firstly, 10 ultrasonography can be used to assess the fetus for major structural abnormalities, as well as for subtle markers of chromosomal abnormalities.
Secondly, invasive prenatal diagnostic procedures have been made safer under ultrasound guidance.
In 1959, using modified metal flaw detecting equipment, Ian Donald first applied ultrasound technology to the assessment of the fetus. The first report of a fetal abnormality identified by ultrasonography was made in 1972 by Campbell who identified a fetus with anencephaly. Since that time, ultrasonography has become the primary screening procedure and diagnostic test in obstetrical care.
The equipment used in ultrasonography consists of three elements: the transducer, the computer, and recording devices. The transducer permits transmission and reception of high frequency sound waves (ultrasound). The transducer relies on the piezoelectric effect in which silicon crystals in the transducer, when exposed to electrical impulses, microscopically deform and subsequently emit high frequency sound waves. Reflected sound waves also cause deformations in the crystals; the deformations are then transformed into electrical impulses.
The ultrasound machine's computer converts the reflection induced electrical impulses from the transducer into visual images. The conversion employs time differences between reflected sound waves caused by the variable speed of sound transmission through tissues with distinct acoustic impedances. Greater resolution is achieved using high frequency sound 11 waves (5 MHz and higher), whereas, the greatest penetration of tissues is achieved by using lower frequency sound waves (3.5 MHz and lower)
(Ellwood, 1995). A variety of recording devices can be utilized to store information about the ultrasound examination.
Common indications for ultrasound examinations include estimation of gestational age, evaluation of fetal growth, determination of fetal positioning, identification of multiple pregnancies, evaluation of amniotic fluid volume, assessment of the umbilical cord and placental position, and detection and assessment of fetal developmental abnormalities. An ultrasound examination for detailed fetal assessment should include an assessment of the cerebral ventricles, cerebellum, spine, heart, stomach, urinary bladder, renal structures, extremities and umbilical cord insertion site on the abdominal wall (Garmel and D'Alton, 1994).
The interpretation of the images produced during an ultrasound examination is dependent on the skill of the sonologist (medical practitioner) and sonographer (technical personnel). A high level of expertise is required for the examiner to envision three dimensional impressions of two dimensional images.
Several reversible interactions are present when ultrasound enters the body, including particle displacement, increase in temperature, and change in tissue density (DuBose, 1996). These interactions are transient and cease when ultrasound is removed. The interactions are caused by ultrasound induced force effects, thermal effects and cavitation (the generation and 12 stability of bubbles). A detailed description of these effects is beyond the scope of this thesis.
Extensive studies on the safety of prenatal ultrasonography have focused on the areas of structural fetal abnormalities, low birth weight, abnormal neurological development, speech delay, hearing impairment, pediatric cancer, and left-handedness (Salvesen, and Eik-Nes, 1996). No studies have ever confirmed harm to the fetus due to exposure to diagnostic ultrasound examination. The American Institute of Ultrasound in Medicine has concluded that "no confirmed biologic effects on patients or instrument operators caused by exposure to intensities typical of present diagnostic ultrasound instruments have ever been reported. Although the possibility exists that such biologic effects may be identified in the future, current data indicate that the benefits to patients of prudent use of diagnostic ultrasound outweigh the risks, if any, that may be present." (AIUM, 1988).
The most significant risk of ultrasound examination is not biological but is the risk of false positive diagnosis. The incorrect diagnosis of a fetal abnormality when none is present may potentially lead to maternal anxiety or even to termination of pregnancy. Alternatively, the failure to detect fetal abnormalities may offer false assurances to women regarding the health of the fetus. 13
1.4.1 Accuracy of Ultrasonography
A number of studies have been performed to assess the accuracy of ultrasound examinations in detecting fetal abnormalities. Comparison of results is hindered by differences in experimental design and in the populations being studied. Gonclaves and associates (1994) have reported ultrasound sensitivities to be 89% in detecting lethal abnormalities; 77% in detecting abnormalities requiring neonatal care and 30% in detecting abnormalities that were nonlethal or not requiring neonatal care. Congenital heart defects, microcephaly, abnormalities of the face, extremities and external genitalia have been found to have low ultrasound sensitivities
(Cheschier, et al., 1994; Gonclaves, et al., 1994).
In the Gonclaves study, several biases are present. Firstly, the study population was composed mostly (206 out of 287) of women with pregnancies at high risk due to a prior abnormal ultrasound examination, abnormal family history or obstetrical complication. Secondly, the population was limited to women who had scans at 16 weeks of gestation and after. Thirdly, as the study was hospital based, women who may have had ultrasound false negative diagnoses but delivered elsewhere were likely missed. Finally, the study does not indicate the method of pregnancy termination for those fetuses identified through autopsy reports.
The Cheschier study was also biased as it limited its population of cases to pregnancies terminated with medical procedures (i.e. prostaglandin induction of labour). It is presumed that following surgical termination 14 procedures (i.e. dilatation and evacuation or dilatation and curettage), the likelihood of ascertaining all the malformations in a fetus at autopsy is greatly reduced. Overall, these biases serve to inflate the measures of sensitivity for ultrasound diagnosis of fetal malformations in the two studies.
Ultrasound false-negative diagnosis recognized at fetal autopsy may provide important information that can affect the diagnosis of a syndrome, identification of the etiology or pathogenesis of the abnormality, and determination of the severity of the abnormality. Without a full autopsy examination following pregnancy termination, the final diagnosis of the fetal malformation may be indeterminate or equivocal.
Alterations in the final diagnosis of fetal malformations due to ultrasound false negative and false positive diagnoses has been reported to occur in 54% (36/67), 46% (28/61), and 53% (35/66) of medically terminated pregnancies examined in three studies which compared ultrasound derived diagnoses with autopsy derived diagnoses (Weston, et al., 1993; Shen-
Schwarz, et al., 1989; and Julian-Reynier, et al., 1994, respectively). For example, Julian-Reynier and associates (1994) reported a case in which a pregnancy was terminated due to ultrasound identified exomphalos. Upon autopsy examination, in addition to exomphalos, the fetus was found to have a ventricular septal defect, and diaphragmatic aplasia, a phenotype that lead to a final diagnosis of Fryn syndrome.
These studies are biased by their inclusion of only pregnancies terminated with a medical procedure, thus yielding an intact fetus for 15 autopsy examination. Again, it is presumed that following surgical termination procedures, the likelihood of the autopsy identification of fetal malformations that were not seen by ultrasound examination is greatly reduced. These findings emphasize the importance of fetal autopsy in determining an unequivocal final diagnosis and hence recurrence risks following the termination of pregnancy due to ultrasound identified fetal malformations.
Several factors have been identified that influence the sensitivity of ultrasound examinations. Early gestational age (less than 18 weeks) at the time of examination, oligohydramnios, maternal body habitus, multiple pregnancy, fetal position, late presentation or development of some abnormalities, abnormalities that may not be detectable by ultrasound examination, fetal death and the presence of multiple anomalies have been reported to decrease the accuracy of ultrasound examinations (Chitty, et al.,
1991; Levi, et al., 1995; Manchester, et al., 1988; Shen-Schwarz, et al., 1989;
Weston, et al., 1993). These intrinsic limitations of ultrasonography underline the importance of fetal autopsy in the confirmation of prenatal diagnoses and in the identification of abnormalities not apparent on ultrasound examination.
1.4.2 Ultrasound Markers of Aneuploidy
Chromosome aneuploidies may lead to a wide variety of phenotypic abnormalities that can be detected by ultrasonography. Fetal growth 16 retardation, major and minor structural malformations and amniotic fluid abnormalities may be identified by ultrasound examination. As a screening test, ultrasound examination may identify pregnancies not otherwise thought to be at risk of chromosomal abnormalities, indicating further invasive diagnostic investigations. The incidence of chromosomal abnormalities has been found to be more likely when multiple fetal abnormalities are identified
(30%) than when isolated abnormalities are identified (17%) (Wilson, et al.,
1992). The proportion of ultrasound identified fetal abnormalities with a chromosomal etiology was found to be independent of the gestational age at ultrasound examination (Rizzo, et al., 1996). In fetuses with structural abnormalities seen on ultrasound examination, the prevalence of chromosomal abnormalities in the second and third trimesters was found to be 15.7% and 17.5%, respectively. This difference was not statistically significant. A counterbalance between spontaneous abortion due to selection of chromosomally abnormal fetuses and the lower accuracy of ultrasonography at early gestational age most likely explains the result.
Ultrasound detectable markers of chromosomally abnormal fetuses are listed in tables 1.1 through 1.4. Further studies are needed to establish the correlation between gestational age and the relative risk of chromosome abnormalities with specific ultrasound diagnosed fetal abnormalities. 17
Table 1.1 Ultrasound Markers of Trisomy 21 Feature Reference Short Femur and Humerus Nyberg, et al., 1990 Congenital Heart Defects Nicholaides, et al., 1992 Nuchal Skin Thickening Crane, & Gray, 1991 Hydronephrosis Hanna, et al., 1996 Duodenal Atresia Hanna, et al., 1996 Polyhydramnios Hanna, et al., 1996 Omphalocele Van Zalen-Sprock, et al., 1991 Encephalocele Van Zalen-Sprock, et al., 1991
Table 1.2 Ultrasound Markers of Trisomy 13# Feature Feature Cleft Lip and/or Palate Polyhydramnios Omphalocele Hand and Feet Abnormalities Holop rose ncep haly Single Umbilical Artery Congenital Heart Disease Urinary Tract Abnormalities # Nicholaides, et al., 1992a
Table 1.3 Ultrasound Markers of Trisomy 18* Feature Feature IUGR Urinary Tract Abnormalities Congenital Heart Disease Diaphragmatic Hernia Omphalocele Facial Clefting Encephalocele Single Umbilical Artery Open Neural Tube Defects Clenched Hands (overlapping fingers) Talipes *Nyberg, et al., 1993
Table 1.4 Some Ultrasound Markers of Chromosomal Aneuploidy Feature Overall Risk Reference of Aneuploidy CNS Abnormalities 19% Eydoux, et al., 1989 Congenital Heart Defects 36% Eydoux, et al., 1989 Omphalocele 26% Eydoux, et al., 1989 Skeletal Abnormalities (Isolated) 1% Eydoux, et al., 1989 Skeletal Abn. (Not Isolated) 37% Eydoux, et al, 1989 Renal Abnormalities 5 - 9% Wilson, et al., 1988 Cystic Hygroma (with Hydrops) 100% Brumfield, et al., 1991 Cystic Hygroma (No Hydrops) 25% Brumfield, et al., 1991 Facial Abn (Isolated) < 1% Eydoux, et al., 1989 Facial Abn (Not Isolated 27% Eydoux, et al., 1989 Gastrointestinal 21% Eydoux, et al., 1989 Abn = Abnormality 18
1.4.3 Ultrasound Detection of Anencephaly
Anencephaly is characterized by the complete or partial absence of the cranial vault and cerebral hemispheres. The defect is due to failure of the anterior neuropore to close at 28 days of development (Van Allen, et al.,
1993). The inheritance pattern of anencephaly is thought to be multifactorial, although anencephaly has also been found to be associated with amniotic bands, chromosome abnormalities and exposure to certain teratogens (e.g., folic acid antagonists, valproic acid, maternal diabetes)
(Campbell, et al., 1986). Abnormalities found in association with anencephaly include spina bifida, facial clefting, omphalocele, diaphragmatic hernia, hydronephrosis, and congenital heart defects (Melnick and
Myrianthopoulos, 1987).
Anencephaly is detectable by ultrasound examination from 11 weeks of gestation. The brain will have an abnormal appearance because the skull is absent. The exposed brain tissue will gradually disintegrate due to exposure to amniotic fluid, with complete elimination of cerebral tissue occurring by 17 weeks of gestation (Sanders, 1996). The accuracy of ultrasound identification of anencephaly has been found to be high with sensitivity approaching 100%
(Gonclaves, et al., 1994).
1.4.4 Ultrasound Detection of Abdominal Wall Defects
Gastroschisis and omphalocele are the two main forms of abdominal wall defects that can be identified by ultrasonography. Gastroschisis is 19 characterized by the evisceration of the abdominal viscera through a defect in the anterior abdominal wall. The abnormality is thought to occur in most cases due to a vascular defect of the right omphalomesenteric artery causing necrosis in the region at the base of the umbilical cord (Hoyme, et al., 1991).
Gastroschisis is usually a sporadic event which occurs predominantly in young women, although rare cases of familial inheritance have been reported
(Yang, et al., 1992).
Gastroschisis is detectable by ultrasonography from 13 weeks of gestation (Langer, et al., 1993). The bowel can be seen to be herniated through the anterior abdominal wall with a normal umbilical cord insertion site. The bladder and stomach may also be involved. The accuracy of ultrasound identification of gastroschisis has been found to be high with sensitivity reaching 92 - 100% (Gonclaves, et al., 1994; and Levi, et al., 1995).
Omphalocele is characterized by the herniation of the abdominal viscera into an amniotic membrane sac attached to the umbilical ring. The defect is thought to be due to failure of lateral body-fold migration and body- wall closure (Kalousek and Lau, 1992). While most cases of omphalocele are sporadic, the condition is often associated with chromosomal abnormalities, such as trisomies 13 and 18, and rarely with autosomal or X-linked inheritance (Nicholaides, et al., 1992b). In fetuses with omphalocele, 50% have additional abnormalities, including neural tube defects, congenital heart defects, diaphragmatic hernias, imperforate anus, and bladder exstrophy (Nicholaides, et al, 1992b). Omphalocele can be detected by ultrasonography from 13 weeks of gestation (Sanders, 1996). The abdominal viscera are seen to be herniated into a membrane covered sac at the site of umbilical insertion by ultrasonography. The accuracy of ultrasound detection of omphalocele is high, with sensitivity reported to be 92 - 100% (Levi, et al., 1995).
1.4.5 Ultrasound Detection of Congenital Heart Defects
Congenital heart defects encompass a wide range of structural and functional abnormalities. A complete description of congenital heart defects and their detection by ultrasonography is beyond the scope of this thesis.
Drose and Cyr (1996) describe the components of an ultrasound examination of the fetal heart. A four chamber view of the heart can be obtained by scanning transversely through the fetal chest. The four chamber view of the heart enables assessment of both atria and both ventricles, as well as the tricuspid and mitral valves. Long axis views of the heart can be used to assess the ascending aorta, the interventricular septum, the aortic valve, the pulmonary artery and the right ventricular outflow tract. Short axis view of the heart can be used to evaluate the great vessels, the interventricular septum, and the aortic arch. Pulsed Doppler ultrasonography can be used to evaluate the heart for valvular insufficiency or stenosis, interventricular septum defects, and aortic coarctation.
The accuracy of ultrasound detection of congenital heart defects is dependent on the defect and the skill of the observer. The sensitivities of 21 detection of ventricular or atrial septal defects and single ventricle heart have been reported to be 13% and 80%, respectively (Levi, et al., 1995).
1.4.6 Ultrasound Detection of Cystic Hygroma
Cystic hygroma is characterized by membrane enclosed fluid collections of the lymphatic system occurring in the nuchal region. Cystic hygroma is thought to be due to delayed development of the connection between the venous system and the jugular lymphatic sacs (Chervenak, et al., 1983). While the majority (75%) of fetuses with cystic hygroma have chromosome abnormalities (Azar, et al., 1991), most commonly Turner syndrome and Down syndrome, cystic hygroma may also occur in many other malformation syndromes, including Noonan syndrome (Witt, et al., 1987), multiple lethal pterygium syndrome (Moerman, et al., 1990), and Brachmann de Lange syndrome (Bruner and Hsia, 1990). Abnormalities associated with cystic hygroma include congenital heart defects, nonimmune fetal hydrops, and renal anomalies (Fisher, et al., 1996).
Cystic hygroma appears by ultrasound examination as a fluid filled space that may be septated, emerging from the posterior region of the neck.
The accuracy of ultrasound detection of cystic hygroma is high, with sensitivity reported to be 92 - 100% (Levi, et al., 1995). Skin thickening and hydrops may also be visualized by ultrasound exam. 22
1.4.7 Ultrasound Detection of Cystic Kidneys
Cystic kidney diseases are a heterogeneous collection of disorders.
Cystic and dysplastic changes may be bi- or unilateral and may involve all or part of the kidney. A complete description of the classification and the pathogenesis of cystic kidney diseases is beyond the scope of this thesis.
Polycystic kidney disease is characterized by small dilations of the renal collecting tubules, causing symmetric renal enlargement and subsequent renal failure. Multicystic kidney disease is characterized by disorganized
glomeruli, tubules, ducts and cysts of the collecting tubules. Cystic kidneys
may occur in isolation or may be associated with other congenital
abnormalities. Cystic kidneys may occur sporadically, as is the case in
multicystic dysplastic kidneys, or they may appear as a feature in a number of syndromes, including chromosome abnormalities, infantile or adult polycystic kidney disease, short-rib Polydactyly syndrome, Meckel-Gruber
syndrome, Zellweger syndrome, and Ehlers-Danlos syndrome (Reuss, et al.,
1991).
Ultrasound detection of multicystic dysplastic kidney disease may be characterized by the visualization of cysts, parenchymal echogenicity, kidney enlargement, compensatory enlargement and hypertrophy of the unaffected kidney if the disorder is unilateral, and oligohydramnios developing at 15 to
18 weeks of gestation if the disorder is bilateral, (Reuss, et al., 1991).
Ultrasound detection of polycystic kidney disease is characterized by enlargement and increased parenchymal echogenicity of the kidneys, small 23 bladder, and oligohydramnios developing as early as 15 to 18 weeks of gestation. These findings may mot be seen until the late second trimester
(Reuss, et al., 1991). Ultrasound diagnosis of polycystic kidneys, as opposed to multicystic kidneys, is usually contingent upon a family history of polycystic kidney disease. The accuracy of ultrasound detection of cystic kidney disease is high, with sensitivity reported to be 86% (Levi, et al., 1995).
1.4.8 Ultrasound Detection of Diaphragmatic Defects
Diaphragmatic defects are characterized by the protrusion of some of the abdominal contents into the chest cavity through a defect in the diaphragm. Posterolateral diaphragm defects are known as foramen of
Bochdalek hernias and retrosternal diaphragm defects are known as foramen of Morgagni hernias. Diaphragmatic defects are thought to arise due to aberrant timing of the thoracic migration of the gut from the yolk sac between the 6th and 10th week of gestation. Most cases of diaphragmatic defects occur sporadically, but they have also been found to be associated with chromosomal abnormalities, such as trisomies 18 and 21, as well as over
30 other malformation syndromes, such as Fryn syndrome and Cornelia de
Lange syndrome (Cunniff, et al., 1990). Fetal abnormalities found in association with diaphragmatic defects include congenital heart defects, pulmonary hypoplasia (due to a compression effect), renal abnormalities, facial clefts, and CNS malformations (Cunniff, et al., 1990). 24
The ultrasound findings in fetuses with the more common left-sided diaphragmatic defects include deviation of the heart to the right, displacement of the stomach and small bowel into the chest, and in some cases the displacement of the left lobe of the liver. The ultrasound findings in fetuses with right-sided diaphragmatic defects include the deviation of the heart to the left, presence of liver in the chest, and abnormal alignment of the stomach in the abdomen. The accuracy of ultrasound detection of diaphragmatic defects is high, with sensitivity reported to be 80% (Levi, et al., 1995).
1.4.9 Ultrasound Detection of Fetal Hydrops
Hydrops fetalis is characterized by the accumulation of fluid in the serous cavities and by soft tissue edema in the fetus. Hydrops is classified as nonimmune if fetomaternal blood incompatibility is ruled out as the cause.
Nonimmune hydrops fetalis may be caused by a variety of fetal, maternal or placental disorders (table 1.5 ).
At ultrasound examination, fetal hydrops is characterized by two or more of the following findings pericardial effusions, pleural effusions, fetal ascites, and skin thickening. The accuracy of ultrasound detection of fetal hydrops is high, with a sensitivity reported as 84% (Holzgreve, et al., 1986). 25
Table 1.5 Some Disorders Associated With Nonimmune Hydrops Fetalis Disorder Specific Condition Cardiovascular Congenital heart block Structural defects Cardiomyopathy Chromosomal Trisomy 21 Other trisomies Turner syndrome Triploidy Single Gene Disorders Osteogenesis imperfecta Achondrogenesis Thalassemia Respiratory Diaphragmatic hernia Cystic adenoma of the lung Maternal Severe anemia Severe diabetes mellitus Placenta Fetomaternal transfusion Chorioangioma Infection Cy tome galovirus Toxoplasmosis Rubella Adapted from Holzgreve, Holzgreve, and Curry, (1985)
1.5 Overview of Pregnancy Termination
Termination of pregnancy is an option available to families following the identification of fetal malformations or chromosomal abnormalities which may be lethal in nature or incompatible with normal life. The decision to terminate a pregnancy should be made following non-directive genetic counseling, during which all the options available in the pregnancy can be discussed. It has been recognized that couples face psychological sequelae following termination of pregnancy for genetic reasons comparable to the sequelae that occur after neonatal loss (Suslak, et al., 1995; Lloyd, and
Laurence, 1985). 26
Pregnancy termination procedures may be divided into two main groups: medical (drug induced labour and delivery) terminations and surgical terminations.
1.5.1 Overview of Medical Termination Procedures
Medical terminations make use of prostaglandins or prostaglandin analogues. Prostaglandins and their analogues have their effect on smooth muscle tone causing uterine contractions and expulsion of the products of conception. Prostaglandins may be administered by a variety of means including vaginal suppositories, intra-amniotic injections and oral preparations. Medical termination procedures may be performed at any stage of gestation (Rayburn, and Laferla, 1986).
1.5.1.1 Advantages and Disadvantages of Medical Terminations
The major advantages of medical terminations include the delivery of an intact fetus for pathological examination and the potential for the couple to view and hold the fetus, which has been suggested to aid in the grieving of parents (Kenyon, et al., 1988; Suslak, et al., 1995). Disadvantages of medical terminations include the pain and psychological stress of labour and delivery, the potential for protracted labour dependent on the drug choice and dose, retention of the placenta requiring surgical intervention, the possible delivery of a live preterm fetus, and drug side effects (such as vomiting, diarrhea and fever). Contraindications to medical termination include hypersensitivity to prostaglandins or prostaglandin analogues, active pelvic 27 inflammatory disease, placenta praevia, and prior uterine surgery with vertical scarring (Rayburn, and Laferla, 1986).
1.5.2 Overview of Surgical Termination Procedures
Surgical termination procedures consist of cervical dilatation and aspiration of the products of conception after they are reduced in size by instrumental physical disruption. Dilatation and curettage (D & C) procedures, performed up to 14 weeks in gestation, involve disruption of the fetus with a sharp curette followed by vacuum aspiration. Dilatation and evacuation (D&E) procedures, performed after 14 weeks of gestation, may involve disruption of the fetus and evacuation of the uterus with forceps.
These procedures usually take place under general anesthesia.
1.5.2.1 Dilatation of the Cervix
Effective dilatation of the cervix is an essential step in the termination procedure, both for allowing instruments access to the uterus and for removing the products of conception. Cervical dilatation may be achieved by a variety of techniques. Slow and careful serial insertion of dilators with a long and gentle taper may be used for rapid dilatation, but this technique is associated with increased risk of cervical trauma (lacerations and perforations) (Schulz, et al., 1983).
Expanding hygroscopic dilators, such as laminaria tents or synthetic dilapan tents, offer a safe and effective means of achieving cervical dilatation.
Laminaria tents - slender stems of a cold water seaweed - swell to 3-4 times 28 their dry diameter without lengthening when placed in water. To achieve adequate dilatation, laminaria tents are often inserted in multiple sets over a two day period prior to surgery. Dilapan tents are synthetic hydrophilic dilators which offer the advantages of sterility and expansion at a faster rate than laminaria tents. A positive linear regression of cervical dilatation against increasing gestational age and increasing number of laminaria utilized, has been reported to exist (Munsick, and Fineberg, 1996). In short, the greater number of laminaria tents used in a procedure, the greater the cervical dilatation; the greater the gestational age, the greater the cervical dilatation. No association between parous and nulliparous status and the extent of cervical dilatation has been found to exist (Kline, et al., 1995; Wells, et al., 1989). Munsick and Fineberg (1996) offer recommendations regarding the extent of cervical dilatation according to weeks of gestation (see table
1.6).
Table 1.6 Recommendations For Cervical Dilatation
Weeks of Gestation Cervical Dilatation
8 to 14 wks 8 to 14 mm 14 to 19 wks 14 to 21 mm > than 19 wks > than 21 mm 29
1.5.2.2 Disruption of the Fetus
As the fetus is larger than the extent of cervical dilatation, instrumental disruption to reduce the size of the fetus is required prior to evacuation of the uterus. Following physical disruption and evacuation, the condition of the fetus may be found to range from relatively intact to extremely damaged fetal parts. Damage to the fetus may result in the collapse of the skull with loss of brain tissue, fragmentation of the viscera, separation of the limbs and admixture of fetal fragments with placental fragments.
1.5.2.3 Advantages and Disadvantages of Surgical Terminations
Surgical termination procedures have a number of advantages when compared with medical terminations. Surgical termination procedures are reported to have lower rates of morbidity and mortality when compared to medical termination procedures (Kafrissen, et al., 1984). Additionally, surgical termination procedures have been reported to take less time and are less painful than medical procedures (Kaltreider, et al., 1979). Finally, surgical terminations do not require extended hospitalization and thus are less expensive than medical terminations (Crist, et al., 1983). The main disadvantage of surgical termination procedures is that an ideal autopsy examination is precluded as a result of physical disruption of the fetus. 30
1.6 Overview of Fetal Pathology
Genetic counseling and future reproductive planning are contingent upon the accurate diagnosis of fetal abnormalities and inherited diseases.
Careful examination of the aborted fetus at autopsy provides geneticists and counselors with information upon which assessments of recurrence risks are made. Furthermore, fetal autopsy examination may serve as an auditing mechanism for ultrasonographers, confirming their findings and identifying false positive and false negative findings. Confirmation of the actual fetal abnormalities may also ease the psychological sequelae of couples following termination of pregnancy (White-Van Mourick, et al., 1992) and eliminate the incertitude present within the couple's decision-making process (Drugan, et al., 1990).
1.6.1 Overview of the Autopsy Examination
The purpose of embryofeto- pathology examination is to evaluate the fetus in terms of developmental anomalies or other findings that have led to abnormal prenatal investigations or death. Kalousek et al. (1992) describe autopsy examinations as including photographic documentation, radiology, external and internal examination for morphological defects, cytogenetic analysis, histological investigations, placental examination, and other laboratory investigations as indicated. Ideally, autopsy examination is performed on intact, fresh fetuses terminated by medical procedures.
However, autopsy examination following surgical termination procedures has 31 been reported to be of value to genetic counseling (Shulman, et al., 1990;
Klatt, 1995).
1.6.2 Overview of Congenital Abnormalities
Fetal abnormalities encompass a wide extent of pathological anomalies. The abnormalities may represent mild or severe (disabling or incompatible with life) defects; they may occur in isolation or multiply.
Careful reporting of the nature of pathological anomalies is necessary prior to causative analysis. The field of pathology has developed terminology that helps describe congenital abnormalities and provides a starting point in determining pathogenic mechanisms.
1.6.2.1 Classification of Fetal Abnormalities
A variety of schemes can be used in the classification of fetal abnormalities. Fetal abnormalities may be broadly and best characterized according to the mechanism through which the abnormality arose as malformations, disruptions, deformations or dysplasias (Hall, 1992).
Malformations are morphological defects occurring in an organ or in a larger part of the fetus consequent to an intrinsically abnormal developmental process. Disruptions are morphological defects occurring in an organ or in a larger part of the fetus consequent to an extrinsically caused failure of an otherwise initially normal developmental process. Deformations are abnormalities in the position or conformation of a component of the fetus 32 resulting from mechanical forces. Dysplasias are abnormalities in the organization of cells in a specific single tissue. Determining the mechanisms through which congenital abnormalities arise is an important step in reaching an understanding of the etiology and recurrence risks of defects in the fetus.
Patterns of fetal abnormalities may also be classified according to the understanding of the cause of the abnormality. In this scheme, patterns of fetal abnormalities are categorized as belonging to syndromes, sequences, associations or developmental field defects (Hall, 1992). A syndrome is a pattern of fetal abnormalities that have a shared etiology. A sequence is a recognized pattern of fetal abnormalities that arise from a single primary defect. An association can be defined as the nonrandom occurrence of multiple fetal abnormalities not otherwise identified as a sequence or a syndrome. Typically, the fetal abnormalities found in association are major defects arising at the same time in embryonic development (Lubinsky, 1986).
Developmental fields are embryonic regions that act as spatially coordinated units during development. A defect in a developmental field results in multiple fetal abnormalities occurring in the affected region.
1.6.3 Etiology of Fetal Abnormalities
The etiologies of fetal abnormalities may be classified as genetic, environmental, and unknown. The proportion of fetal abnormalities attributed to these etiologies have been reported to be 15 to 25% with genetic 33 etiologies, 10% with environmental etiologies and 65 to 75% with unknown etiologies (Brent, and Beckman, 1994). Genetic etiologies may be classified as single gene disorders (with autosomal recessive, autosomal dominant or sex-linked inheritance), chromosomal anomalies (aneuploidies, deletions, rearrangements or duplications), or mitochondrial disorders. Environmental exposures during pregnancy that may be of harm to the fetus include maternal conditions such as alcoholism, diabetes mellitus, endocrinopathies, and nutritional deficiencies; maternal infections such as varicella, cytomegalovirus, rubella, and toxoplasmosis; and maternal ingestion of teratogenic agents such as alcohol, vitamin A derivatives, or anticonvulsants
(Brent, and Beckman, 1994). Etiologies that can be classified as unknown include: polygenic disorders, which involve the interaction of multiple genes; multifactorial disorders, which involve the interaction of genetic, environmental and stochastic factors; and stochastic causes, in which fetal malformations may occur by a chance or stochastic event during development. Stochastic events are unpredictable and do not seem to carry much of a recurrence risk (Hall, 1992).
1.7 Overview of Genetic Counseling
Genetic counseling has been described as "a communication process which deals with the human problems associated with the occurrence, or risk of occurrence, of a genetic disorder in a family. This process involves an attempt by one or more appropriately trained persons to help the individual 34 or the family to: i. comprehend the medical facts, including the diagnosis, the probable course of the disorder and the available management; ii. appreciate the way heredity contributes to the disorder and the risk of recurrence in specified relatives; iii. understand the options for dealing with the risk of recurrence; iv. choose the course of action which seems appropriate to them in view of their risk and their family goals and act in accordance with that decision; and v. make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder.",
(Fraser, 1974). Genetic counseling usually involves, but is not limited to, decisions regarding reproduction. Couples face many choices while undergoing genetic counseling, the choice of utilizing invasive prenatal
"diagnostic procedures, the choice of continuing or terminating an affected pregnancy, and the choice of termination procedure.
1.7.1 Recurrence Risks
The provision of recurrence risks, the probability that subsequent children will be affected, is dependent on the accurate diagnosis of fetal abnormalities and inherited diseases by detailed autopsy examination, ultrasonography, and biochemical, molecular, or cytogenetic investigations.
Recurrence risks can be divided into two classes, mendelian or empirical.
Fetal abnormalities of mendelian origin may be of autosomal recessive (AR), autosomal dominant (AD), or X-linked recessive/ dominant traits. Based on
Mendel's Law of Segregation, recurrences risks for AR and inherited AD 35 conditions are usually 25% and 50%, respectively. For X-linked conditions, the recurrence risks are dependent up on the genotype of each parent and the sex of the offspring.
Empirical recurrence risks are provided for fetal abnormalities of chromosomal, multifactorial or sporadic origin. Empirical risk estimates are based on the study of large numbers of families in which the siblings of an affected proband are surveyed to determine the proportion who also have the condition. Depending upon the number of families studied and the frequency of recurrence, the empirical risk estimate will have a greater or lesser degree of precision.
Several factors should be weighed when providing empirical recurrence risks. Due to the genetic heterogeneity of fetal abnormalities, it may be invalid to lump all families with an abnormality into one group (e.g. Down syndrome due to trisomy, familial translocation or de novo translocation).
Furthermore, as the empirical risks are based on the study of populations, it should be determined whether the abnormality varies with ethnicity or environment when applying the estimates in other populations.
1.8 Aims of the Present Study
The purpose of the thesis is to examine the influence of the method of pregnancy termination on the assessment of recurrence risks. It is widely held that following surgical termination procedures, the likelihood of ascertaining all the abnormalities in a fetus at autopsy is greatly reduced. However, fetal autopsy following surgical termination procedures has been suggested to provide information of value to genetic counseling, including confirmation of prenatal diagnosis and identification of fetal abnormalities that were not detected on ultrasound examination (Klatt, 1995; Shulman, et al., 1990).
Couples facing a choice of termination procedures following the identification of fetal abnormalities should weigh the possibility that after a surgical termination, information of use to genetic counseling may be missed at fetal autopsy. This thesis proposes that abnormalities exist that are resistant to the physical disruption inherent in the surgical termination procedures and will therefore be available for identification at autopsy.
Additionally, this thesis suggests that if the prenatal diagnosis is of a nature that an accurate recurrence risk can be offered prior to the termination
(chromosome abnormalities), then the surgeon may perform the surgical termination in such a way as to yield products of conception that are less amenable to thorough autopsy examination. Conversely, if an accurate recurrence risk cannot be predicted prior to the termination, then the surgeon may perform the surgical termination in such a way as to yield products of conception that have a greater amenability to autopsy examination. Finally, this thesis suggests that the gestational age of the fetus at termination will influence the completeness of the products of conception to autopsy examination. 37
A retrospective chart review of ultrasound reports and autopsy reports was undertaken in pregnancies terminated for fetal abnormalities to examine the influence of the termination procedure on the ability to assess recurrence risks at autopsy. This study will provide information of use in genetic counseling and to parents deciding which termination procedure is most appropriate to their needs. 38
2 Methods and Subjects
2.1 Ascertainment of Subjects
This study involved a retrospective chart review of patients referred to the British Columbia Provincial Medical Genetics Programme between
January 1st, 1991 and January 1st, 1996. Selection of Medical Genetics charts for inclusion in the study was performed in two steps. In the first step, patient charts were identified by an audit of Medical Genetics clinician on-call records of prenatally abnormal cases. The on-call records document the patient's name, Medical Genetics chart number, the geneticist and genetic counsellor involved in the case, the indication for referral, and further investigations undertaken.
Selection criteria for the audit included consecutive cases recorded as terminated (TA), all cases of CVS, amniocentesis and cordocentesis abnormalities, as well as all cases of ultrasound abnormalities where the pregnancy outcome was not recorded. In the second step, the charts identified by the audit were subjected to the following criteria for inclusion in the study: a prenatal diagnosis of a fetal abnormality had been made by ultrasound or cytogenetic investigations, a decision was made to terminate the pregnancy or the pregnancy resulted in a stillbirth, and consent had been given for fetal autopsy examination in those cases cases terminated after 20 weeks of gestation. 39
2.2 Sources of Data
In most cases, the Medical Genetics charts included copies of ultrasound reports, cytogenetics reports, and autopsy reports. If not contained in the Medical Genetics chart, access to the ultrasound reports and the autopsy reports was obtained through the Ultrasound Department at
B.C.'s Woman's Hospital and the Autopsy/Embryopathology Section of the
Department of Pathology at B.C.'s Children's Hospital, respectively. For the cases in which a surgical termination was performed during the period of
Jan. 1st, 1995 to Jan. 1st, 1996, information regarding the utilization of cervical dilators was sought from the C.A.R.E. programme at B.C.'s Women's
Hospital. Patient information was directly transcribed from the patients' charts onto a dataform (Appendix I) and linked only by a unique number.
2.2.1 Maternal Information
The mother's age and reproductive history including gravidity (G), parity (P), number of terminations (TA), number of spontaneous abortions
(SA), number of stillbirths (S), number of living children (L), and number of neonatal losses (N), were recorded. The indication for medical genetics referral was also recorded.
2.2.2 Ultrasound Information
Information transcribed from the ultrasound report included the indication for ultrasound examination and the written description of the ultrasound findings (see Appendix II). Additionally, the estimated gestational age at ultrasound examination by last known menstrual period
(dates) and by ultrasound-determined growth parameters and the amniotic fluid status (normal, mild, moderate and severe oligohydramnios and mild, moderate and severe polyhydramnios) were recorded.
2.2.3 Autopsy Information
Information transcribed from the autopsy report included the name of physician who performed the pregnancy termination, the method of termination, the estimated gestational age at autopsy, the physical condition of the products of conception (e.g. intact, damaged parts, fragmented, macerated), the written description of the autopsy findings, and a description of which tissues were examined at autopsy (gross or histological examination). Autopsy findings are listed in Appendix III and Appendix IV.
2.2.4 Cytogenetics Information
The results of cytogenetics investigations were transcribed from the cytogenetics reports. Prenatal cytogenetic results and the procedure used to obtain tissue for cytogenetic analysis (CVS, amniocentesis, or cordocentesis) were recorded. Cytogenetics results following the termination of pregnancy were also recorded. If a report was not contained within the Medical
Genetics chart or described in the physician consultation letters, it was concluded that cytogenetics investigations were not performed. 41
2.3 Database Construction
All information transcribed from patient charts and records was entered into a Microsoft ACCESS ™ (version 7.0) database on an IBM compatible personal computer. Microsoft ACCESS is a 'relational database management system' which permits storage and retrieval of information according to defined relationships. The data were entered into five tables
(Demographic, Ultrasound, Ultrasound Findings, Autopsy, and Autopsy
Findings) that were related to each other by unique case number. Microsoft
ACCESS 'Queries' enable the retrieval (assessment) of data that are stored in tables based on selection criteria, thereby facilitating data analysis.
2.4 Data Coding
Data were coded to facilitate analysis in the following database fields: indication for Medical Genetics' referral, indication for ultrasound examination, amniotic fluid volume, description of ultrasound finding, method of termination, pre-termination fetal demise, tissues examined at autopsy, ultrasound findings, and autopsy findings. Codes for fields other than ultrasound findings and autopsy findings are listed in appendix V.
Codes used for ultrasound findings and autopsy findings were drawn from the British Paediatric Association Classification of Diseases (1979), a perinatal supplement to the 9th revision of the International Classification of
Diseases (ICD-9). 42
2.5 Analysis
2.5.1 Ability to Make a Final Diagnosis at Autopsy
Autopsy reports were examined to address whether the ability to make a final diagnosis based on autopsy findings was influenced by the method of termination. Cases with chromosomal abnormalities were excluded from this analysis. Additionally, analysis was restricted to the cases with specific ultrasound-identified or -suspected abnormalities that encompassed a broad range of affected tissues. Cases with more than one of the specific ultrasound-identified abnormalities were counted only once in the analysis.
It was determined that a final diagnosis could be based upon autopsy findings if the diagnosis was based soley upon the recognition of patterns of abnormalities found at autopsy, not upon the ultrasound findings. If a final diagnosis was made using information derived from the ultrasound report, then it was determined that the final diagnosis was not based upon the autopsy findings. For example, if a final diagnosis of Meckel-Gruber syndrome was based on the autopsy findings of cystic kidneys and
Polydactyly and the ultrasound finding of encephalocele (the ultrasound finding being used because the calvarium was fragmented by the termination procedure and thus the encephalocele could not be confirmed at autopsy), this diagnosis would not be considered to be based on the autopsy findings.
For each of the cases, the following additional information was assessed: the method of termination, classified as either surgical (dilatation and curettage or dilatation and evacuation) or medical (induced labour or stillbirth); the prenatal cytogenetics results, classified as either abnormal or normal/unknown; and the estimated gestational age at termination, classified according to the groupings 10-14 weeks, 15-20 weeks, 21-24 weeks, and 25 + weeks.
Statistical analysis was performed using SPSS statistical software on an IBM compatible personal computer. The data were arranged into 2X2 contingency tables with the ability to make a diagnosis based soley on the autopsy findings set as the dependent variable and the method of termination set as the independent variable. Odds ratios with 95% confidence intervals were assessed to determine if an association existed between the ability to make a diagnosis based on autopsy findings and the method of termination. For observation purposes, among the cases terminated by a surgical method, the ability to make a diagnosis based on autopsy findings was distributed against the prenatal cytogenetics results and the estimated gestational age at termination. See section 2.6 for a description of the statistical methods.
2.5.2 Method of Pregnancy Termination
All the cases included in the study were examined to address whether the method of termination was independent of the prenatal diagnosis of a chromosomally abnormal fetus. A Microsoft ACCESS query was performed that selected for the method of termination and the corresponding prenatal karyotype and gestational age at termination for each case. The method of 44 termination was categorized as surgical (dilatation and curettage or dilatation and evacuation) or medical (induction), the prenatal karyotype was categorized as abnormal or normal/unknown, and the gestational age was recorded as a continuous variable. Unassisted stillbirths, in which the fetus was spontaneously aborted or miscarried, were treated as medical cases.
Cases with intrauterine demise identified by ultrasonography were categorized as either surgical or medical according to the method used to evacuate the uterus.
Statistical analysis was performed using SPSS statistical software on an IBM compatible personal computer. The data were arranged into tables with the method of termination set as the dependent variable. The prenatal cytogenetic results and the estimated gestational age at termination were set as independent variables. Multiple logistic regression was performed to assess the effect that the prenatal cytogenetics results and the gestational age at termination had on the probability that a surgical termination method was used. See section 2.6.3 for a description of the statistical methods.
2.5.3 Tissues Examined at Autopsy
Autopsy reports were examined to address whether the ability to examine specific tissues at autopsy was influenced by the method of termination, the prenatal diagnosis of a chromosomal abnormality or the estimated gestational age at termination. Examination of autopsy findings for fetuses terminated with specific ultrasound identified abnormalities was 45 facilitated by performing Microsoft ACCESS queries. Multiple queries were performed in which cases were selected by specific ultrasound-identified or
-suspected fetal abnormalities (see table 2.1). Following the identification of cases with specific ultrasound-identified abnormalities or -suspected ^ abnormalities, the corresponding autopsy reports were assessed to determine whether the structure(s) identified as or suspected to be abnormal by ultrasonography were examined at autopsy. This assessment was based on the description of the gross or microscopic examination of the tissue in the autopsy report. If no description was found in the autopsy report or if there was a statement that the tissue was not examined at autopsy, then the tissue was considered not examined. It is assumed that if the fetal tissues are in a condition that they can be examined, then they will be assessed at embryofeto-pathology examination. Cases with specific ultrasound-identified or -suspected fetal abnormalities were selected for this analysis. These fetal abnormalities were chosen because they encompassed a broad range of affected tissues.
Table 2.1 Case Subgroups Used in Analysis Ultrasound-Identified Abnormality Abdominal Wall Defects (Gastroschisis or Omphalocele) Anencephaly/Acrania Congenital Heart Defects (Structural) Cystic Hygroma Cystic Kidney Disease Diaphragmatic Defects Nonimmune Fetal Hydrops 46
For each of the cases, the following additional information was assessed using Microsoft ACCESS queries: the method of termination, classified as either surgical (dilatation and curettage or dilatation and evacuation) or medical (induced labour or stillbirth), the prenatal cytogenetics results, classified as either abnormal or normal/unknown, and the estimated gestational age at termination, classified according the groupings 10-14 weeks, 15-20 weeks, 21-24 weeks, and >25 weeks. Cases with more than one of the specific ultrasound-identified abnormalities were counted multiple times. The results of the above assessments were subsequently entered into Microsoft ACCESS tables.
Statistical analysis was performed using SPSS statistical software on an IBM compatible personal computer. The data were arranged into 2X2 contingency tables with the examination at autopsy assessment fixed as the dependent variable (row heading) and the method of termination set as the independent variable (column heading). Fisher's exact tests were performed to test for independence of the variables. Additionally, odds ratios with 95% confidence intervals were assessed to determine if an association existed between the ability to examine specific tissues at autopsy and the method of termination. For observation purposes, the examination at autopsy assessment for cases terminated with a surgical method was distributed against the results of prenatal cytogenetics investigation and the estimated gestational age at termination.
f 47
2.5.4 CNS, Heart and Kidneys Evaluated at Autopsy
At autopsy, the evaluation of the CNS, the heart and the kidneys yield information important to establishing a diagnosis. Autopsy reports were examined to address whether the ability to evaluate the CNS, heart and kidneys was influenced by the method of termination. Analysis was performed on all the cases in the study. The assessment of whether the tissue was able to be evaluated at autopsy was based on the description of the gross or microscopic examination of the CNS, heart and kidneys in the autopsy report. If no description was found in the autopsy report or if there was a statement that the tissue was not examined at autopsy, then the tissue was considered not to be examined.
For each of the cases, the following additional information was queried: the method of termination, the prenatal cytogenetics results, the estimated gestational age at termination, the physician who performed the termination, the number of cervical dilators utilized in the termination, and the gravidity of the mother.
Statistical analysis was performed using SPSS statistical software on
an IBM compatible personal computer. The data were arranged into 2X2 contingency tables. The ability to evaluate the CNS, heart and kidneys at
autopsy was set as the dependent variable and the method used to terminate the pregnancy was set as the independent variable in the contingency tables.
Chi square tests were performed to determine if an association existed between the ability to evaluate the CNS, heart or kidneys and the method of 48 termination. Additionally, odds ratios with 95% confidence intervals were assessed to determine if an association existed between the ability to evaluate the CNS, heart or kidneys and the method of termination. For the cases terminated by a surgical method, multiple logistic regression was performed to assess the effect that the prenatal cytogenetics results and the gestational age at termination had on the probability that the CNS, heart or kidneys could be evaluated at autopsy. See section 2.6 for a description of the statistical methods.
2.6 Statistical Analysis
2.6.1 Chi Square Test
In a chi-square test, a theoretical population distribution is compared with a distribution generated by a sample. In other words, the chi square test is used to determine the probability that the observed data could have been found by chance. Chi square contingency tables were constructed to test the groups in a tabular form. Table 2.2 shows a sample 2X2 contingency table.
Table 2.2 Sample 2X2 Contingency Table Method of Termination Examined Surgical Medical Row Totals Yes Xn X12 Ri No X21 X22 R2
Column Totals c2 C2 Total(T) 49
In 2 X 2 contingency tables, the cases are divided into 4 "cells", Xn,
X12, X21, and X22, based upon the variables under investigation. The expected number of cases in each of the cells under the null hypothesis was calculated using the formula:
fn= (CiHRi) T where: fy equals the expected number of cases in cell Xy (i = 1, 2, j = 1,2); Cj equals the total for column j j = 1, 2; Ri equals the total for row i i = 1, 2; T equals the total number of cases.
The chi square formula is:
2 X = £ (Ifi - fii - 0.5)2 j where: i and j serve as labels for the rows and columns; fij equals the observed number of cases in row i and column j; fij equals the expected number of cases in row i and column j; under the null hypothesis; -0.5 equals the Yates correction for continuity (Zar, 1984); and E indicates summation for each cell in the contingency table.
Due to the fact that the data being tested is a sample count, whereas the chi-square distribution is continuous, the Yates correction for continuity was used. The calculated chi-square value can be compared with the critical values of the theoretical chi-square distribution, which are the chi square values that can occur by chance (due to sampling error) for different degrees of freedom and different levels of a. The calculated chi-square values using
sampling counts are thus only approximations of the theoretical distribution.
For degrees of freedom other than one, the approximation is good. When the 50 degree of freedom is one, as in 2 X 2 contingency tables, Yates correction for continuity can be used to lower the chi-square value and accordingly decrease the probability of a type I error.
2.6.2 Fisher's Exact Test
The Fisher's exact test is an alternative to the Chi-square test which computes the exact p-value for a particular sample. The Fisher's exact test is generally used when sample sizes are small (< 20). Similar to the chi square test, the Fisher's exact test makes use of 2 X 2 contingency tables. The
Fisher's Exact test considers concurrently two binomial probabilities (pi and p2): the probability of fn being found at random from a total of Ri cases (pi) and the probability of fi2 being found at random from a total of R2 cases (p2).
The Fisher's Exact test consists of calculating the actual probability of the observed 2X2 contingency table with respect to all other possible 2X2
contingency tables with the same row (Ri and R2) and column (Ci and C2) totals (Altman, D., 1991). The probabilities of all such tables that are each no more likely than the observed table are calculated and summed. If the sum is less than or equal to a specified significance value (see above), then the null hypothesis can be rejected. The Fisher's exact test is denoted by the formula:
Ri!R2!Ci!C2! P= n! , fll!fl2!f2l!f22! 51 where: R! equals the factorial of the total number of cases in row 1 or 2; C! equals the factorial of the total number of cases in column 1 or 2; f. equals the factorial of the observed number of cases in the cells; n! equals the factorial of the total number of cases; and P equals the probability of seeing the original data set if the null hypothesis is true.
2.6.3 Multiple Logistic Regression
In multiple logistic regression analysis, variables may be tested to determine if they are related and the strength of the relationship may be calculated. The logistic regression model fits the log odds of a response
(dependent) variable to a linear function of explanatory (independent) variables, (Menard, S., 1995). Thus, the logistic regression formula may be used to predict the value of a response variable based upon information about explanatory variables. The multiple logistic regression formula is:
logit (p) = ln( p ) = a + pXi + PX2 ...pXn , 1-p where: p is the probability of an event in the response variable; a is a constant; X is the explanatory variable; and
P is the effect (increment in log odds) of an explanatory variable.
For example, In examined at autopsy = a + P(PND of Chr. Abn.) + P(Gest. Age at TA). not examined at autopsy
For convenience, an exponential transformation of the multiple logistic regression model can be used, (Menard, S., 1995):
a p = e [ + P(Xi) + P(X2)+... P(Xn)] t or
1 + e [« + P(Xl) + P(X2) + ... P(Xn)] 52
a+P PND f Chr Abn + P(Gest A e atTA probability of examined at autopsy = e < ° - > - e > l + g» + P(PND of Chr. Abn.) + P(Gest. Age at TA)
The P coefficient measures the strength of the relationship between the response variable and the explanatory variable(s) and may be expressed as an odds ratio, expp. The odds ratio is the amount that is multiplied to the odds of a response variable outcome for the different categories of the explanatory variable. The odds ratio may be expressed as the equation:
P
eP = 1-P , F 1-P
where: ep is the odds ratio: P is the probability of a response variable outcome under category 1 of an explanatory variable; P' is the probability of a response variable outcome under category 2 of an explanatory variable; and P _ is the odds of the event occurring in the response variable. 1 - P
An odds ratio greater than 1.0 means the probability of a response variable outcome (e.g. examined at autopsy) is increased in the presence of the explanatory variable (e.g. PND of normal karyotype), while an odds ratio less than 1.0 implies that the probability of a response variable outcome is decreased in the presence of the explanatory variable. An odds ratio of 1.0 means that the probability of a response variable outcome is independent of the explanatory variable. The 95% confidence interval for the odds ratio is calculated by ep±2(s E), where S.E. is the standard error for the P coefficient. 53
In this thesis, multiple logistic regression was performed with several different response variables (see Table 2.3). The response variables were regressed against the explanatory variables, prenatal diagnosis of a chromosomal abnormality (Normal/Unknown or Abnormal) coded as 1 or 2,
Table 2.3 Response Variables Used in Logistic Regression 1) Method used to terminate the pregnancy (Surgical or Medical), coded as 1 or 0. 2) CNS evaluated at autopsy following surgical termination procedures (Yes or No), coded as 1 or 0. 3) Heart evaluated at autopsy following surgical termination procedures (Yes or No), coded as 1 or 0. 4) Kidneys evaluated at autopsy following surgical termination procedures (Yes or No), coded as 1 or 0. and the estimated gestational age at termination (treated as a continuous variable). Additionally, the effects of the explanatory variables in interaction was also tested (e.g. the effect of prenatal diagnosis of a chromosomal abnormality and estimated gestational age at termination (see Figure 2.1).
Figure 2.1 Relationships Analyzed in Logistic Regression
EXPLANATORY VARIABLES
Results of Prenatal Estimated Gestational Age at Cytogenetics Investigations Termination V )
RESPONSE VARIABLES
r Probability of: Surgical Termination CNS Examination at Autopsy Heart Examination at Autopsy Kidney Examination at Autopsy y 54
Multiple logistic regression can also be employed to assess whether an interrelationship exists between two explanatory variables (Xi and X2). This assessment requires that the logistic regression first be performed using both of the explanatory variables. A second logistic regression is subsequently performed using only one of the explanatory variables (Xi). If the p value for the explanatory variable Xi changes dramatically between the two logistic regressions, then a strong interrelationship exists between the two explanatory variables. When a strong interrelationship is found between two explanatory variables, a logistic regression can be performed to determine a model for the relationship between the two variables (e.g. Xi = a + PX2). A final multiple logistic regression can be performed substituting the above model into the multiple logistic regression formula:
logit (p) = ln( p ) = a + p(a + pX2) + pX3 ... PX„ . 1- p
2.6.3.1 Evaluation of Multiple Logistic Regression
The logistic regression output from SPSS (version 6.1.4) statistical software includes several measures for evaluating the significance of the logistic regression model. Several questions may be asked regarding the statistical significance of the results of the logistic regression analysis. How confident can one be that a relationship between all the explanatory variables, taken together and the response variable is beyond what may be expected by chance? If a relationship exists between an explanatory variable 55 and a response variable, how strong is it? If the overall model fits the data well, how important is each of the explanatory variables? Is the relationship between any of the variables attributable to random sample variation?
Which explanatory variables are stronger or weaker predictors of the response variable?
The initial log-likelihood function (-2 log likelihood) is the equivalent of the total sum of squared errors when predicting the value of a response
A variable, Y, by using the mean of Y, Y, as the value predicted for all of the A cases. The formula for the sum of squared errors is Z(Y-Y)2. When the log- likelihood is multiplied by -2, it has approximately a chi square distribution.
Large values of-2 LL indicate poorer predictions in outcomes of the response variable (Menard, 1995). The model log-likelihood function and model chi square provide tests of the null hypothesis that Pi = P2 = ...= Pk = 0 for the model or that the explanatory variables are independent of the response variable. If the model chi square is statistically significant, then the null hypothesis may be rejected and it can be concluded that the explanatory variables permit better predictions to be made about the response variable than could be made without the explanatory variables (Menard, S., 1995).
The percentage by which the multiple logistic regression model improves the predictability of the response variable when compared to predictions based on the mean of the response variable is measured by the
R2L statistic. The R2L statistic is calculated by dividing the model chi square 56 score by the initial -2 log-likelihood. The Wald statistic (W2) is used to test for the statistical significance of the effect (p) that an explanatory variable has on the response variable, (Menard, S., 1995). The Wald statistic is calculated as W2 = [p/S.E. p]2, and is distributed as a chi square distribution.
The Wald statistic is calculated for the explanatory variable as a whole and
also for the separate categories of the variable. The statistical significance of the individual explanatory variables should be considered only if the
explanatory variables as a group have a statistically significant effect on the
response variable. The statistical significance of the individual explanatory variables should be interpreted as whether the effects of being in a certain
category are statistically significantly different from the average effect of the
categorical explanatory variable, given that the categorical explanatory
variable has a statistically significant effect to begin with (Menard, S., 1995).
2.6.4 Odds Ratios
Calculating an odds ratio is another way of making comparisons
between two categories. The results of odds ratio analysis may be
particularly useful for counselling purposes. Using this method, the odds of
an outcome in a dependent variable in one category are compared with the
odds of the outcome in a second category. Drawing from symbols used in
table 2.2, the odds ratio may be calculated as:
Odds Ratio(OR) = (Xn)(X22) , (Altman, 1991), (X12XX21) 57 where: Xii is the number of cases in category 1 with outcome 1; X12 is the number of cases in category 1 with outcome 2; X21 is the number of cases in category 2 with outcome 1; and
X22 is the number of cases in category 2 with outcome 2.
An odds ratio greater than 1 indicates that there is a greater risk for outcome
1 in category 1, than in category 2. Whereas, an odds ratio less than 1 indicates that there is a lesser risk for outcome 1 in category 1 in comparison with category 2.
When the 2X2 contingency tables contained cells with zero frequencies, a constant of 0.5 was added to all of the cells (Shoukri and Edge,
1996).
To obtain a 95% confidence interval for the odds ratio, or the range of values for the odds ratio which we can be confident includes true value 95%
of the time, the standard error (S.E. loge OR) of the logarithm of the odds ratio must first be determined. The standard error can be calculated by the formula:
S.E.floge OR)= Vl/Xn + I/X12+ I/X21 +I/X22 , (Altman, 1991).
The 95% confidence interval is derived from the formula:
loge OR ± 1.96 x S.E. (loge OR) .
2.6.5 Significance Levels
The a error is the probability of committing a type I error, or the probability of a false rejection when the null hypothesis is true. The a error 58 is additive over a set of statistical tests. As multiple statistical tests were performed in this thesis, the overall a for the set of tests was calculated.
The individual a was calculated using the Bonferroni method, (Altman,
1991):
a' = a , k
where: a is the overall alpha level (= 0.05), a' is the alpha level for each test, and k is the number of statistical tests.
As thirteen statistical tests were performed in this study, a critical value of 0.00385 was used for significance.
The probability of accepting the null hypothesis when it is false (type
II error) is denoted as (3. The two types of errors are inversely related, so that as the a value decreases, the p value increases. The p value is dependent on the a level, the sample size and the effect size - how much of an effect the independent variables have on the dependent variable. The power of a statistical test, or the probability of rejecting a null hypothesis when it is false, is equal to (1 - P).
2.7 Ethical Review
Ethical review was sought and approval earned from the Clinical
Screening Committee For Research and Other Studies Involving Human
Subjects of the University of British Columbia (REB), the Research
Coordinating Committee of the British Columbia Women's Hospital and 59
Health Centre Society, the British Columbia's Children's Hospital Research
Review Committee, and the University of British Columbia's Department of
Medical Genetics Clinical Records Committee. Confidentiality of the data was maintained by storing all notes and dataforms in a locked research cabinet. All computer files were password protected. Moreover, all data in this thesis contain no identifying information. 60
3 Results
3.1 Sample Analyzed
Nine hundred and eighty one cases, identified by an audit of Medical
Genetics clinician on-call records, were examined to determine eligibility for inclusion in this thesis project. 521 cases were selected for inclusion in this thesis. Of these cases, eight were twin pregnancies, therefore the total number of fetuses included in this thesis was 529. The average maternal age was 31.6 years (15-45 years) for these cases. Of the 521 cases, spontaneous abortions accounted for 18 of the cases.
Prenatal karyotyping was performed on 305 of the cases and was successful in 300 of the cases, for a 98.4% success rate. Post-termination karyotyping was performed on 446 of the cases and was successful in 410 of the cases, for a 91.9% success rate. Table 3.1 summarizes the results of the cytogenetic investigations. 47.8% (255) of the cases were found to have chromosomal abnormalities, and overall, 80.0% of chromosomally abnormal cases were diagnosed prenatally. The chromosomal status of the fetus in 28 cases was unknown, due to failure of karyotyping after termination or both prenatal and post-termination cytogenetic investigations not being performed.
3.2 Sample for Method of Termination Analysis
The method of termination was assessed for each of the 521 cases. The distributions of the method of termination against the prenatal cytogenetics 61 results and the estimated gestational age at termination are summarized in
Table 3.2 and Figure 3.1, respectively. The average estimated gestational age at termination for cases terminated with a surgical procedure of 16.4 weeks (95% C.I.= 16.1 - 16.7 weeks) was significantly different than the average estimated gestational age at termination for cases terminated with a medical procedure of 20.8 weeks (95% C.I. = 20.2 - 21.4 weeks).
Table 3.1 RESULTS OF CYTOGENETIC INVESTIGATIONS
Fetal Abnormality # of Cases Diagnosed # of Cases At % of Cases Diagnosed
Prenatally Final Diagnosis Prenatally
Chromosomal Abnormalities 204 255 80.00%
Trisomy 211 83 89 93.25%
Trisomy 181 29 40 56.67%
Trisomy 131 21 29 72.50%
Translocations2 20 23 87.00%
Turner syndrome1 17 32 53.10%
Triploidy 10 12 83.30%
Other abnormalities3 24 30 80.00%
Normal Karyotype 96 238
Unknown Karyotype 221 28
1 Includes mosaic cases
2 Balanced & unbalanced
3 Including 47, XXX, 47, XXY, Ring, idic, del, dup, inv, other trisomies, and CPM Table 3.2 DISTRIBUTION OF PRENATAL CYTOGENETIC RESULTS BY METHOD OF TERMINATION
Method of Total # of Cases Total # of Cases With PND of: Termination Abn. Karyotype Normal/Unknown Karyotype Surgical 300 145 155 Medical 221 59 162
Total 521 204 317
Figure 3.1 DISTRIBUTION OF ESTIMATED GESTATIONAL AGE AT TERMINATION VS METHOD OF TERMINATION
50 T
'-,'-,-*'-l'- In most cases, the estimated gestational age at termination described in this thesis was determined by foot length measurements as recorded on the autopsy report. The surgical termination cases encompassed both dilatation and curettage (D & C) and dilatation and evacuation (D & E) procedures, of which there were 21 and 279, respectively. The medical 63 termination cases encompassed induced labour terminations and spontaneous losses, of which there were 202 and 18, respectively. Additionally, one case categorized as a medical termination was terminated by hysterotomy. 3.3 Diagnosis Based on Autopsy Analysis Examination of the autopsy reports for the 230 cases terminated with specific ultrasound-identified or -suspected fetal abnormalities was performed to determine if the method of termination influenced the likelihood that a diagnosis could be based on autopsy findings. Cases that were found to have abnormal karyotypes were excluded from this analysis as the diagnosis in these cases is based on the karyotype, not the autopsy findings. Table 3.3 summarizes the distribution of the ability to reach a final diagnosis based on autopsy findings against the method of termination. Overall, a diagnosis could be based on autopsy reports for 112 of the 133 cases (84.2%). For all but one case terminated by a medical method, a diagnosis could be based on the autopsy findings. In this one case, the autopsy examination was restricted by parental request to external examination only. Table 3.3 DISTRIBUTION OF CASES WITH DIAGNOSES BASED ON AUTOPSY FINDINGS Diagnosis From Total # Total # of Cases With Odds Ratio 95% Confidence Autopsy Findings of Cases Medical TA Surgical TA Interval Yes 112 76 36 42.2 5.4- 327.0 No 21 1 20 Odds ratio analysis was performed to compare for the ability to base diagnoses on the autopsy findings and the different methods of termination. The fetal autopsy was 42.2 times less likely to provide a diagnosis in those cases terminated with a surgical method that with a medical method. The ability to base diagnoses on autopsy findings is decreased when a pregnancy is terminated by a surgical method, as compared to a medical method. 3.4 Specific Tissue Examined At Autopsy Analysis In order to determine if the method of termination influences the ability to examine specific ultrasound-identified or -suspected fetal abnormalities at autopsy, ultrasound findings and corresponding autopsy findings were compared (Appendix II and III). The distribution of cases with specific ultrasound-identified or -suspected abnormalities by the method of termination is described in table 3.4. 230 cases were identified or suspected by ultrasound examination to have one or more of the following abnormalities: diaphragm defect (17 cases); cystic kidney disease (22 cases); anencephaly (34 cases); abdominal wall defect (omphalocele or gastroschisis - 42 cases); fetal hydrops (44 cases); cystic hygroma (67 cases); and structural heart defect (68 cases). Isolated fetal abnormalities identified or suspected by ultrasound examination accounted for 60 of the 230 cases (26.1%). Note that complex malformations of the heart and the spectrum of abnormalities that contribute to the diagnosis of nonimmune fetal hydrops were considered to be 65 single malformations. Anencephaly with associated abnormal spine anatomy was considered to be a multiple malformation case. Table 3.4 DISTRIBUTION OF THE CASES TERMINATED WITH SPECIFIC ULTRASOUND -IDENTIFIED OR -SUSPECTED FETAL ABNORMALITIES Fetal Abnormality Total # of Total* of Odds 95% C.I. Fisher's exact Cases With Cases With Ratio* P Value Abn. Surg. TA Med. TA Abdominal Wall Defects 42 20 22 30.60 1.63 - 575.84 0.00107* Not Examined 8 0 Examined 12 22 Anencephaly 33 13 20 8.91 0.39 - 202.07 0.14773 Not Examined 2 0 Examined 11 20 Cystic Hygroma 67 51 16 146.18 7.97 - 2680.93 < 0.00001* Not Examined 37 0 Examined 14 16 Cystic Kidney Disease 22 6 16 N/A N/A N/A Not Examined 0 0 Examined 6 16 Diaphragm Defects 17 8 9 19.00 0.83 - 434.47 0.02941 Not Examined 4 0 Examined 4 9 Fetal Hydrops 44 24 20 9.00 0.45 - 178.12 0.13397 Not Examined 4 0 Examined 20 20 Structural Heart Defects 68 23 45 21.00 1.08 • 409.15 0.01087 Not Examined 4 0 Examined 19 45 t 0.5 constant added to each cell for odds ratio analysis due to zero frequency in Medical TA/Not Examined cell. * Statistically significant results Fisher exact tests were performed to test for independence between the ability to examine specific ultrasound-identified or -suspected abnormalities at autopsy and the method of termination. A significant difference was found between the different termination procedures and the frequency of cases in 66 which abdominal wall defects or cystic hygroma were able to be evaluated at autopsy. Odds ratio analysis was performed to compare for the ability to evaluate these specific ultrasound-identified or -suspected abnormalities at autopsy and the different methods of termination. This analysis found that the odds of not being able to evaluate abdominal wall defects and cystic hygroma at autopsy were 30.60 and 146.18 times, respectively, more likely for those cases terminated with a surgical method than with a medical method. Results that warrant consideration but were not statistically significant were found between the different termination procedures and the frequency of cases in which diaphragm defects or structural heart defects were able to be evaluated at autopsy. Odds ratio analysis found that the odds of not being able to evaluate diaphragm defects or structural heart defects were 19.00 and 21.00 times, respectively, more likely for those cases terminated with a surgical method than with a medical method. The ability to evaluate these specific ultrasound-identified or -suspected abnormalities at autopsy were decreased when a surgical termination was performed. No association was found between the different termination procedures and the frequency of cases in which anencephaly or fetal hydrops were able to be evaluated at autopsy. Testing for independence between the ability to examine ultrasound identified or suspected cystic kidneys at autopsy and the method of termination was not performed because in all cases the kidneys were examined at autopsy. 67 The distribution of surgically terminated cases with specific ultrasound identified or suspected abnormalities by prenatal cytogenetics results and the estimated gestational age at termination is summarized in tables 3.5 and 3.6, respectively. Statistical analysis was not performed as these comparisons were unlikely to be of importance. Table 3.5 DISTRIBUTION OF SURGICALLY TERMINATED CASES WITH SPECIFIC ULTRASOUND-IDENTIFIED OR -SUSPECTED FETAL ABNORMALITIES BY RESULTS OF PRENATAL CYTOGENETIC INVESTIGATIONS Fetal Abnormality Total # of Cases Total* of Cases With PND of: With Surgical TA Abn. Karyotype Normal Karyotype Abdominal Wall Defects 20 2 18 Tissue Not Examined 8 1 7 Tissue Examined 12 1 11 Anencephaly 13 1 12 Tissue Not Examined 2 0 2 Tissue Examined 11 1 10 Cystic Hygroma 51 17 34 Tissue Not Examined 37 12 25 Tissue Examined 14 5 9 Cystic Kidney Disease 6 1 5 Tissue Not Examined 0 0 0 Tissue Examined 6 1 5 Diaphragm Defects 8 0 8 Tissue Not Examined 4 0 4 Tissue Examined 4 0 4 Fetal Hydrops 24 12 12 Tissue Not Examined 4 1 3 Tissue Examined 20 11 9 Structural Heart Defects 23 6 17 Tissue Not Examined 4 3 1 Tissue Examined 19 3 16 68 Prenatal diagnosis of a chromosome abnormality was made in 53 of the 230 cases, with 36 and 17 of the chromosomally abnormal cases terminated by a surgical and medical methods, respectively. The distribution of surgically terminated cases with specific ultrasound identified or suspected abnormalities by estimated gestational age at termination for cases terminated with a surgical procedure is summarized in table 3.6. Table 3.6 DISTRIBUTION OF SURGICALLY TERMINATED CASES WITH SPECIFIC ULTRASOUND-IDENTIFIED OR -SUSPECTED FETAL ABNORMALITIES BY ESTIMATED GESTATIONAL AGE AT AUTOPSY Fetal Abnormality Total* of Cases Total* of Cases With With Surgical TA EGA at Autopsy of: 10-14 wks 15-20 wks 21 - 24 wks Abdominal Wall Defects 20 2 15 3 Tissue Not Examined 8 2 5 1 Tissue Examined 12 0 10 2 Anencephaly 13 2 10 1 Tissue Not Examined 2 0 2 0 Tissue Examined 11 2 8 1 Cystic Hygroma 51 21 29 1 Tissue Not Examined 37 18 19 0 Tissue Examined 14 3 10 1 Cystic Kidney Disease 6 0 5 1 Tissue Not Examined 0 0 0 0 Tissue Examined 6 0 5 1 Diaphragm Defects 8 1 7 0 Tissue Not Examined 4 1 3 0 Tissue Examined 4 0 4 0 Fetal Hydrops 24 ' 11 13 0 Tissue Not Examined 4 2 2 0 Tissue Examined 20 9 11 0 Structural Heart Defects 23 2 19 2 Tissue Not Examined 4 0 3 1 Tissue Examined 19 2 16 1 69 The average estimated gestational age at termination for the total group of 230 cases was 18.4 weeks (ranging from 10 - 36 weeks). The average estimated gestational age at termination for the surgical cases of 15.8 weeks (95% C.I. = 15.3 to 16.4 weeks) was found to be significantly different than the average estimated gestational age at termination for cases terminated with a medical procedure of 20.9 weeks (95% C.I. = 20.0 to 21.8 weeks). 3.5 Evaluation of CNS, Heart, Kidney at Autopsy Analysis An objective of this thesis was to determine if the method of termination influenced the ability to evaluate the CNS, cardiac structures and kidneys at autopsy. Accordingly, the autopsy findings for all of the cases included in this thesis (521) were examined to assess whether these tissues were evaluated at autopsy. Table 3.7 summarizes the relationship between the ability to evaluate the CNS, heart and kidneys at autopsy against the method of termination. Chi square tests were performed to test for independence between the ability to evaluate the CNS tissue, the heart and the kidneys at autopsy and the method of termination. Statistically significant differences were found between the frequency of cases in which the CNS tissue, the heart and the kidneys could be individually evaluated at autopsy and the different methods of termination (P « 0.00001, P < 0.00001, and P = 0.0005, respectively). Odds ratio analysis was performed to compare for the ability to evaluate the CNS tissue, heart and the kidneys at autopsy and the different methods of 70 termination. This analysis found that the odds of not being able to evaluate the CNS tissue, heart and the kidneys at autopsy were 36.20, 16.76, and 5.04 times, respectively, more likely for those cases terminated with a surgical method than with a medical method. The ability to evaluate the CNS tissue, the heart, and the kidneys is decreased when the pregnancy is terminated by a surgical method. Table 3.7 DISTRIBUTION OF CASES WITH CNS TISSUE, HEART, AND KIDNEY EXAM AT AUTOPSY BY THE METHOD OF TERMINATION Total # of Ability to Examine Total # Cases With Odds 95% C.I. Chi square Tissue at Autopsy of Cases Med. TA Surg.TA Ratio P-Value CNS Tissue 36.20 21.77 - 60.19 O.OOOOl* Examined 226 188 38 Not Examined 294 32 262 Heart 16.76 5.18 - 54.24 <0.00001* Examined 456 217 239 Not Examined 64 3 61 Kidneys 5.04 1.74 - 14.61 <0.00048* Examined 488 216 272 Not Examined 32 4 28 *Statistically significant results Autopsy reports described the examination, gross and/or histological, of the CNS in 38 (12.7%) of the 300 cases terminated by a surgical method. The average estimated gestational age at termination for these cases was 18.2 weeks (95% C.I. = 17.4 - 19.0 weeks). The average estimated gestational age at termination for cases in which the CNS tissue was not examined was 16.1 weeks (95% C.I. = 15.7 - 16.5 weeks). A description of the heart examination was reported in 239 (79.7%) of the cases terminated by a surgical method. 71 The average estimated gestational age at termination for the cases in which the heart was not evaluated was 15.1 weeks (95% C.I. = 14.3 - 15.9 weeks) and for the cases in which the heart was evaluated was 16.7 weeks (95% C.I. = 16.3 - 17.1 weeks). The kidneys were reported to be evaluated in 272 (90.7%) of the 300 cases terminated by a surgical method. The average estimated gestational age at termination for the cases in which the kidneys were not evaluated was 14.2 weeks (95% C.I. = 13.1 - 15.3 weeks) and the cases in which the kidneys were evaluated was 16.6 weeks (95% C.I. = 16.3 - 16.9 weeks). Table 3.8 summarizes the distribution of the ability to examine the CNS, heart and kidneys in cases terminated with a surgical method against the prenatal cytogenetic results. Statistical analysis is presented in section 3.6. Table 3.8 DISTRIBUTION OF SURGICALLY TERMINATED CASES WITH CNS TISSUE, HEART OR KIDNEY EXAMINATION AT AUTOPSY BY PRENATAL CYTOGENETIC RESULTS. Ability to Examine Total # of Cases Total # of Cases With PND of: Tissue at Autopsy With Surgical TA Abn. Karyotype Normal Karyotype CNS Tissue Tissue Examined 38 10 28 Tissue Not Examined 262 135 127 Heart Tissue Examined 239 102 137 Tissue Not Examined 61 43 18 Kidneys Tissue Examined 272 126 146 Tissue Not Examined 28 19 9 Figure 3.2 summarizes the distribution of the ability to evaluate the CNS, heart and kidneys in cases terminated with a surgical method against 72 the estimated gestational age at autopsy. Statistical analysis is presented in section 3.6. Figure 3.2 DISTRIBUTION OF SURGICALLY TERMINATED CASES BY ESTIMATED GESTATIONAL AGE AT TERMINATION 50 T OCNTfCOOOOCNTf i-H r-1 .—I I CM CN CN EGA at Termination (weeks) 3.6 Results of the Strength of Relationships Analysis The final objective of this thesis is to measure the strength of relationships found among the variables. Multiple logistic regression tests were performed with the response (dependent) variables set as: (1) the probability of a surgical termination; (2) the probability that the CNS tissue could be evaluated at autopsy in surgically terminated cases; (3) the probability that the heart could be evaluated at autopsy in surgically terminated cases; and (4) the probability that the kidneys could be evaluated at autopsy in surgically terminated cases. For each of the multiple logistic 73 regression tests, the explanatory (independent) variables were set as the results of prenatal cytogenetic investigations (abnormal or normal/unknown), and the estimated gestational age at termination, treated as a continuous variable. Cases with an estimated gestational age at termination of 25 + weeks were excluded from the tests because surgical terminations are not performed after 24 weeks of gestation in British Columbia. For tests in which the response variable was the probability of a surgical termination, cases in which the fetus was spontaneously aborted or miscarried - were excluded from this assessment. Table 3.9 summarizes the results of the logistic regression analysis. Table 3.9 RESULTS OF MULTIPLE LOGISTIC REGRESSION ANALYSIS - PART A Response Explanatory P1 Sig. Odds 95% C.I. Variable Variable Ratio2 Lower Upper Probability of Surgical Normal Chromosomes 0.77 0.0006 2.17 1.39 3.39 Termination EGA at Autopsy (weeks) -0.33 <0.0001 0.72 0.66 0.78 Probability of Being Able To Abnormal Chromosomes 0.97 0.0142 2.65 1.22 5.79 Examine The CNS EGA at Autopsy (weeks) 0.23 0.0008 1.26 1.10 1.44 Tissue at Autopsy Probability of Being Able To Abnormal Chromosomes 1.06 0.0008 2.89 1.56 5.37 Examine The Heart EGA at Autopsy (weeks) 0.17 0.0012 1.19 1.07 1.32 at Autopsy Probability of Being Able To Examine The Kidneys EGA at Autopsy (weeks) 0.30 0.0001 1.35 1.15 1.58 at Autopsy !p is the explanatory variable coefficient calculated by SPSS statistical software. 2The odds ratio is calculated by expp and is the increment in the log odds of the probability of the response attributed to the explanatory variable. 74 The effect of interactions between the two explanatory variables (prenatal cytogenetics results and estimated gestational age at termination) was also assessed. No significant interactive effect between the prenatal cytogenetic investigations and the estimated gestational age at termination was found by the multiple logistic regression analysis. The prenatal diagnosis of a chromosomal abnormality and the estimated gestational age at termination were also assessed to determine if a interrelationship between the two existed. No interrelationship between the two explanatory variables was found in any of the multiple logistic regression tests that were performed. However, the explanatory variables individually were found to be significantly related to the response variables. The results indicate that a surgical termination was 2.17 (95% C.I. = 1.39- 3.39; P = 0.0006) times more likely to occur when the results of the prenatal cytogenetic investigations are abnormal than when the results are normal/unknown. For each one week increase in the estimated gestational age at autopsy, a surgical termination was 0.72 (95% C.I. = 0.66 - 0.78 P < 0.0001) times less likely to have been used. The strength of the relationships between the ability to examine the CNS tissue at autopsy in surgically terminated cases was also examined. CNS tissue examination at autopsy was 2.65 (95% C.I. = 1.22 - 5.79; P = 0.01) times more likely to occur in surgically terminated cases when the results of the prenatal cytogenetic investigations are normal/unknown than when the 75 results are abnormal. For each one week increase in the estimated gestational age at termination, a CNS tissue examination at autopsy following surgical termination is 1.26 (95% C.I. = 1.1 - 1.44; P = 0.0008) times more likely to be achieved. Heart examination at autopsy was 2.89 (95% C.I. = 1.56 - 5.37; P = 0.0008) times more likely in surgical termination cases when the results of prenatal cytogenetic investigations were normal/unknown than when the results were abnormal. For each one week increase in the estimated gestational age at termination, a heart examination at autopsy following surgical termination is 1.19 (95% C.I. = 1.07 - 1.32; P = 0.0012) times more likely to be achieved. A kidney examination at autopsy in surgically terminated cases is 1.35 (95% C.I. = 1.15 - 1.58; P = 0.0001) times more likely for each one week increase in the estimated gestational age at termination. Two statistics are used to evaluate the significance of the relationship between the response variable and the explanatory variables in multiple logistic regression. SPSS statistical software calculates the initial -2 log- likelihood and model chi square for the multiple logistic regression model (the model considers all variations of the response variables and the explanatory variables). Table 3.10 summarizes the analysis of substantive significance. The R2L value indicates the percentage by which the multiple logistic regression formulas reduce the error of predicting the outcome of the response variable, in comparison to predictions based on the mean of the response variable. In all cases the models are statistically significant. Table 3.10 RESULTS OF MULTIPLE LOGISTIC REGRESSION ANALYSIS - PART B Response Initial Model R2L Variable -2 Log-likelihood Chi-Square Probability of Surgical 613.33 102.66 16.74% Termination Probability of Being Able To 223.58 20.39 9.12% Examine The CNS Tissue at Autopsy Probability of Being Able To 280.21 25.12 8.96% Examine The Heart at Autopsy Probability of Being Able To 185.716 16.985 9.15% Examine The Kidneys at Autopsy 77 4 Discussion 4.1 Population of Cases The sample of 521 consecutive cases examined in this thesis was identified through an audit of clinician on-call records from the Provincial Medical Genetics Programme of British Columbia (PMGP). Inclusion in the study was based on the following criteria: prenatal diagnosis of a fetal abnormality had been made by ultrasound or cytogenetic investigations, a decision was made to terminate the pregnancy or the pregnancy resulted in a stillbirth, and consent had been given for fetal autopsy examination. As a consequence of limiting cases to those identified through the audit of prenatal on-call records, families that had chosen to terminate pregnancies due to fetal abnormalities and were not seen prenatally by clinicians from the PMGP were omitted. Ideally, cases should have been identified through an audit of embryofeto-pathology records. Prenatal karyotyping by chorionic villus sampling, amniocentesis, or cordocentesis was performed on 305 of the 521 cases and identified 204 of 255 (80%) chromosomally abnormal fetuses. The indications for prenatal karyotyping included advanced maternal age, previous live or stillborn infant with chromosomal abnormalities, abnormal maternal serum triple screening results, and detection by prenatal ultrasonography of some fetal abnormalities. The reasons for not performing prenatal cytogenetic investigations included the families' decision to terminate the pregnancy based on the ultrasound findings and the ultrasound identification of fetal 78 abnormalities unlikely to be due to chromosomal abnormalities (e.g. isolated neural tube defects). In the absence of prenatal karyotyping, post-termination karyotyping is essential for helping to establish an accurate diagnosis and recurrence risk for future pregnancies. Conventional karyotyping cannot be done when all fetal tissues are formalin fixed following the termination procedure. Formalin fixation of the fetus occasionally occurred when the fetus was terminated at a site other than B.C.'s Women's Hospital and was subsequently transferred to B.C.'s Children's Hospital for embryofeto- pathology studies. A recent investigation (Kyle et al., 1996) has reported a post- termination karyotyping culture failure rate of 27% when fresh fetal tissues are studied. The high failure rate was found to be related to the delivery- sampling interval - the median interval was 4 days - but not to the gestational age at termination, the tissue type sampled, or the use of potassium chloride. Post-termination karyotyping was performed on 446 cases examined in this thesis and yielded results in 410 (91.9%) of the cases. The delivery- sampling interval for the cases was not recorded as part of this thesis. No attempts were made to determine if the method of termination was related to the failure of prenatal karyotyping. Additionally, this assessment was biased by inclusion of cases with intrauterine fetal demise, as it has also been reported that the karyotype 79 culture failure rate is high following stillbirths (Smith, et al., 1990). For cases in which intrauterine demise was diagnosed at autopsy, the post- termination karyotyping culture failure rate was 33% (8 of 24) and overall accounted for 22% of the post-termination karyotyping culture failure. Obtaining a sample by amniocentesis for karyotyping just prior to the termination procedure may help assure that a fetal karyotype is successfully achieved. The difference between the prenatal karyotyping success rate (98.4%) and the post-termination karyotyping success rate (91.9%) was found to be 6.5%. The knowledge of this figure can be used to facilitate counseling of families who have decided to terminate the pregnancy based on ultrasound identified fetal abnormalities. Post-termination fetal karyotyping (92% success rate) may be performed with relative confidence, sparing the mother the from undergoing uncomfortable invasive prenatal karyotyping procedures. 4.2 Diagnosis Based on Autopsy Findings An objective of this thesis was to determine if the ability to base the diagnosis on autopsy findings was influenced by the method of termination. The results of the analysis (table 3.3) found that the ability to base a diagnosis on autopsy findings was 42 times more likely following medical termination procedures than following surgical termination procedures. Analysis was performed on cases with ultrasound-identified or 80 -suspected abdominal wall defects, anencephaly, cystic hygroma, cystic kidney disease, diaphragmatic defects, fetal hydrops, or structural heart defects. These cases were selected because the fetal abnormalities present represent defects in a broad range of fetal tissues. Chromosomally abnormal cases were excluded from this analysis, as the diagnosis and recurrence risk in these cases is determined by the karyotype and not the anatomical findings of the embryofeto-pathological examination. The nature of the diagnosis was not considered in this analysis (e.g. the diagnosis of unexplained multiple congenital abnormalities and the diagnosis of Fraser syndrome, if based on embryofeto-pathological examination findings, carried equal weight in the analysis). It should be emphasized that this analysis assessed the ability to base a diagnosis on autopsy findings, not the ability to make a diagnosis of a syndrome or cause in general. A couple's decision to terminate a pregnancy based on ultrasound findings is a decision that is made under uncertainty - without the benefit of complete or unambiguous information pertaining to the fetal abnormalities. Such decisions should be made after genetic counseling regarding the risks and benefits of the options available to the couple. Couples should be informed that the provision of recurrence risks are dependent on the accurate diagnosis of fetal abnormalities and inherited diseases. Couples should also be informed that the diagnoses provided by ultrasonography are not unequivocal and that many subtle abnormalities that may permit identification of a genetic syndrome are not apparent on ultrasound exam. 81 Discrepancies between ultrasound diagnosis and diagnosis after embryofeto- pathological examination due to the presence of anomalies not detected on ultrasound examination have been reported (Weston, et al., 1993; Shen- Schwarz, et al., 1989; and Julian-Reynier, et al., 1994). In light of the inability of ultrasound examinations to diagnose subtle fetal abnormalities, the gold standard for diagnosis of fetal abnormalities is embryofeto- pathological examination. Early gestational age, amniotic fluid abnormalities and multiple fetal abnormalities have all been reported to decrease the accuracy of ultrasound examinations (Chitty, et al., 1991; and Manchester, et al., 1988; Shen- Schwarz, et al., 1989; and Weston, et al., 1993). Couples should be informed that additional fetal abnormalities recognized at autopsy may provide important information that can affect the diagnosis of a syndrome, identification of the etiology or pathogenesis of the abnormality, and determination of the severity of the abnormality. Although no quantitative assessment has previously been reported, it is generally accepted that the ability to make a diagnosis is reduced following surgical termination procedures. My analysis supports this assertion and indicates that following surgical terminations, diagnoses must be based at least in part on ultrasound findings without embryopathological confirmation or full examination of the fetus. Consequently, couples should be informed that, with the exclusion of those fetuses with chromosomal abnormalities, the final diagnosis of the fetal malformation may be indeterminate or equivocal 82 without a complete embryofeto-pathological examination following pregnancy termination. This analysis was limited in that the reasons for the inability to base diagnoses on autopsy findings were not explained. It was likely that many of failures to base a diagnosis on autopsy findings were due to an inability to perform neuropathological examinations (see Table 3.7 for a summary of cases with CNS tissue examinations at autopsy). In a like manner, this analysis was limited as it included cases with a wide range of fetal abnormalities. Thus it was unknown if one type of abnormality overwhelmingly influenced the results, (e.g. failure to confirm ultrasound identified CNS abnormalities such as hydrocephalus). To avoid these potential biases, future analysis should be performed on samples with a narrow spectrum of fetal abnormalities, such as ultrasound-identified or -suspected dwarfism or neural tube defects, and the reasons for not being able to base the diagnosis on the autopsy findings should be identified. 4.3 Method of Termination Termination of pregnancy is an option available to couples following the identification of fetal chromosomal or structural abnormalities which may be lethal in nature or incompatible with normal life. Such couples should undergo genetic counseling in order to enable informed decision making. Elements of the genetic counseling session(s) may include a discussion of risks and benefits of the options available, including continuing 83 the pregnancy or terminating the pregnancy and methods of termination available. Once the decision to terminate the pregnancy has been made, in most cases couples choose between pregnancy termination procedures, which may be categorized as medical (drug induced labour and delivery) or surgical terminations. The main potential advantages of a medical termination procedure include the ability to perform a complete embryofeto-pathological examination on the fetus following delivery and the potential for the couple to view and hold the fetus, a process which has been suggested to aid the grieving of parents (Kenyon, et al., 1988; Suslak, et al., 1995). The main disadvantages of a medical termination procedure is that the procedure requires labour and delivery; may be painful, although pain relief is given, exposes the mother to the psychological stress of labour and delivery, and has the potential for protracted labour. Alternatively, surgical terminations offer the advantages of taking less time and due to general or regional anesthesia, avoiding the pain involved in medical procedures (Kaltreider, et al., 1979a). However, the main disadvantage of surgical terminations is that in most cases a complete embryofeto-pathological examination is precluded as a result of the physical disruption of the fetus. At present, a quantitative evaluation of the reasons for a couple's choice of termination procedure is not known. Knowledge of these figures may be used to facilitate genetic counseling of couples facing these decisions. 84 An objective of this thesis was to determine if the method of pregnancy termination was independent of: (1) the results of prenatal cytogenetics investigations, and (2) the estimated gestational age at termination. For those cases in which prenatal karyotyping identifies a chromosomal abnormality, the recurrence risk is determined by the karyotype, and a complete embryofeto-pathological examination is not required. Conversely, when prenatal cytogenetic investigation identifies a normal chromosome complement or prenatal cytogenetics investigations are not performed, a complete embryofeto-pathological examination is essential to establishing a diagnosis and a recurrence risk. Thus, it can be postulated that for the decision making process of couples who chose a surgical termination when the fetal chromosomes were found to be normal or were not known prior to the termination, the advantages of a surgical procedure outweighed the advantages of a medical procedure. A couple's ability to choose between termination procedures is limited by the gestational age at which the termination will take place. In Canada, surgical termination procedures may be prohibited by hospital boards. At British Columbia's Women's Hospital, surgical terminations are prohibited after 24 weeks of gestation and medical termination procedures are permitted past this point only in cases where prenatal diagnosis has identified a fetal abnormality that is lethal in nature. Prior to 24 weeks of gestation, if free from contraindications, couples most often choose between the medical and surgical procedures. 85 However, Kaltreider et al., (1979) reporting on physician's attitudes towards surgical terminations found that physicians who performed pregnancy terminations had an unfavorable attitude towards surgical terminations in the late second trimester. Thus, the demand for late second trimester surgical terminations may not be satisfied due to a dearth in physicians willing to perform such procedures. Multiple logistic regression was performed to analyze the relationship between the method of termination and the prenatal cytogenetic results or the estimated gestational age at termination. Analysis was limited to cases with an estimated gestational age at termination of 24 weeks and below. As well, cases in which the fetus was spontaneously aborted or miscarried were excluded from this assessment. Overall, 298 surgical terminations and 170 medical terminations were included in the analysis. The results of the multiple logistic regression, presented in table 3.9, indicate that both the prenatal cytogenetic finding and the estimated gestational age at termination are significantly related to the termination procedure, but that the interaction between the two independent variables was not related to the termination procedure. In other words, the odds ratio for the response variable, method of termination, and the explanatory variable, "estimated gestational age at termination", is not affected by the explanatory variable, "results of prenatal cytogenetic investigations". The probability of a surgical termination was found to be 2.17 (95% C.I. = 1.39 - 3.39; P = 0.0006) times more likely to occur when the results of 86 the prenatal cytogenetic investigations are abnormal than when the results are normal or unknown. One can conclude from this result that obtaining a specific diagnosis of the fetal anomalies that will allow accurate genetic counseling regarding recurrence risks seems to be a meaningful consideration for couples choosing between termination procedures. For each one week increase in the gestational age at termination, the probability of a surgical termination was found to be 0.72 (95% C.I. = 0.66 - 0.78; P < 0.0001) times as likely to occur. Because the interaction between the two independent variables was not significant, one can conclude that regardless of the prenatal cytogenetic results, the probability that a couple will have a surgical termination procedure appears to decrease as the gestational age at termination increases. Factors which may have influenced which termination procedure was performed include: the physician's preferences, the availability of hospital beds required for medical terminations, and the growth of the couple's bond or attachment to the fetus as the gestational age increases. It appears, that at our center, there is a bias against performing medical terminations at early gestational ages. In order to determine the percentage by which the multiple logistic regression formula reduces the error of predicting the probability of a surgical termination, in comparison to predictions based on the mean of surgical terminations in the sample, the R2L value was calculated. An R2L value of 16.74% was found, thus indicating that the logistic regression formula provides a relatively small improvement in predicting the probability 87 of a surgical termination. It is therefore likely that factors other than the prenatal cytogenetic results and the estimated gestation age at termination have significant effects on the probability that a couple will choose a surgical termination procedure. Factors not assessed in this study that may have an effect include the individual patient's attitude towards the more painful and prolonged medical termination procedures, as well as the availability of physicians with training to perform middle and late second term procedures. An additional factor which may have biased the results was that the cases were not assessed to determine if contraindications for one of the termination procedures were present. However, contraindications to the termination procedures are rare. 4.4 Specific Fetal Tissues Evaluated at Autopsy The main disadvantage of surgical termination procedures is that a complete embryofeto-pathological examination is precluded as a result of physical disruption of the fetus. Following physical disruption and evacuation, the condition of the fetus may range from relatively intact fetal parts to extremely damaged fetal parts. However, embryofeto-pathology following surgical termination procedures has been suggested to provide information of value to genetic counseling, including confirmation of prenatal diagnosis and identification of abnormalities not seen on ultrasound examination. 88 Two reports describing the utility of embryofeto-pathological examinations following surgical termination procedures have been published by Klatt (1995) and Shulman, et al. (1990). Both of these investigations describe the identification of fetal abnormalities at autopsy that confirm prenatal ultrasound diagnosis and identify fetal abnormalities not apparent on ultrasound examination. However, these reports do not provide any indication regarding the amenability of the products of conception to autopsy examination. It remains unknown whether fetal abnormalities were undiagnosed at autopsy because they did not exist or because the disruption of the fetus precluded their identification. An objective of this thesis was to determine if fetal abnormalities exist that are resistant to the physical disruption of surgical termination procedures. Analysis was limited to cases with ultrasound-identified or -suspected fetal abdominal wall defects, anencephaly, cystic hygroma, cystic kidney disease, diaphragmatic defects, hydrops, and structural heart defects. The rationale for performing the analysis on cases with specific fetal abnormalities was that the affected tissues would be targeted for examination during the embryofeto-pathological examination. These specific fetal abnormalities were selected because they represented defects in a broad range of fetal tissues. Additionally, the ultrasound detection of these abnormalities, while not being highly sensitive for all the abnormalities, is uniformly highly specific (Levi, et al., 1994). 89 In this analysis, the embryofeto-pathology reports were examined to determine if the tissue that was found to be abnormal by the ultrasound investigations could be evaluated at autopsy. The results of the odds ratio analysis and the Fisher's exact tests (table 3.4) showed that the ability to examine the affected tissues at autopsy for ultrasound identified or suspected abdominal wall defects and cystic hygroma is significantly reduced when the pregnancy is terminated by a surgical procedure. Thus, it appears that the abdominal wall defects - gastroschisis and omphalocele - and cystic hygroma are not resistant to the physical disruption inherent to surgical terminations. As ultrasonography may not be able to discriminate between gastroschisis and a ruptured omphalocele, the importance of embryofeto-pathological examination to make a diagnosis is emphasized. The etiology of gastroschisis is usually sporadic, whereas omphalocele is often associated with chromosomal abnormalities or autosomally inherited syndromes; thus, the recurrence risks may potentially be substantially different. Therefore, knowledge that the ability to examine abdominal wall defects is reduced following surgical termination procedures is of use in genetic counseling, enabling couples to make informed decisions regarding their choice of termination procedure. Additionally, this analysis found that the frequency of cases in which the affected tissues were evaluated at autopsy for ultrasound-identified or - suspected diaphragm defects and structural heart defects, while not statistically significant (odds ratio = 19.00; 95% C.I. = 0.83 - 434.47; P = 0.03, 90 and odds ratio = 21.00; 95% C.I. = 1.08 - 409.15; P=0.01, respectively), appeared to be reduced when pregnancies were terminated with surgical procedures. For cystic hygroma, diaphragm defects and structural heart defects, as well as abdominal wall defects, the reduction in the ability to evaluate the affected tissue following surgical termination procedures brings about a reduction in the certitude of the final diagnosis and the recurrence risk offered to a couple. This reduction is because the diagnosis cannot be based solely on the findings of the "gold-standard" embryofeto-pathological examination but must depend largely or entirely on ultrasound findings. The inability to evaluate these tissues at autopsy following surgical terminations also gives rise to the possibility that abnormalities not seen on ultrasound examination will not be discovered at autopsy. Failure to find such features may result in failure to recognize a genetic syndrome with a substantial recurrence risk. It appears that the abdominal wall is highly susceptible to fragmentation, consequently reducing the ability to evaluate gastroschisis or omphalocele at autopsy following surgical termination procedures. It was not possible to differentiate between the susceptibility of gastroschisis and omphalocele to severe physical disruption. Likewise, it may be reasoned that the very nature of cystic hygroma, characterized by cysts of the lymphatic system occurring in the nuchal region, and diaphragmatic defects, characterized by the protrusion of some of the abdominal contents into the chest cavity through a defect in the 91 diaphragm, confers a susceptibility to fragmentation during surgical termination procedures. Finally, this analysis found that for ultrasound-identified or -suspected anencephaly, cystic kidneys and fetal hydrops, there was no statistically significant difference between the ability to evaluate the affected tissues at autopsy and the pregnancy termination procedure. Therefore, it may be concluded that these fetal abnormalities are resistant to the physical disruption inherent to surgical termination procedures. The resistance of anencephaly to physical disruption is likely due to the nature of the defect itself. Due to the absence of the cranial vault, it is likely that less physical disruption of the affected fetal tissues is required for evacuation from the uterus and much of the CNS structures are already lost. The resistance of cystic kidneys to physical disruption is likely due to the kidney being a solid encapsulated organ, the location and the size of the kidneys. Their retroperitoneal location posterior to the peritoneum and on the posterior abdominal wall may confer resistance to physical disruption. Between 9 - 24 weeks of gestation, the size of the kidneys ranges from 0.8 mm to 24.5 mm in length (England, 1996; and Bertagnoli, et al., 1983, respectively) and therefore may be more readily evacuated from the uterus. The ability to evaluate tissues affected by fetal hydrops following surgical termination procedures is due to the nature of the fetal abnormality. Fetal hydrops is marked by the accumulation of fluid in the serous cavities and by 92 soft tissue edema in the fetus, hence even if fragmented, the subcutaneous tissues may be examined at autopsy for edema. In addition to examining the relationship between the ability to examine the affected tissues of specific fetal abnormalities at autopsy, the cases that were terminated by a surgical procedure were analyzed by estimated gestational age at termination and the prenatal cytogenetic investigation results. It can be postulated that the prenatal diagnosis of a chromosomally abnormal fetus will influence the surgeon to perform the termination procedure in such a way as to yield products of conception that are less amenable to embryofeto-pathological examination because the diagnosis and recurrence risk will be based on the karyotype and thus the necessity of a complete autopsy is diminished. It can also be postulated that the ability to examine tissues at autopsy following surgical termination procedures will be related to the gestational age termination, as the tissues become more fully formed and the structures firmer and the extent of cervical dilatation increases as gestation progresses (Munsick, and Fineberg, 1996). The gestational age at termination was divided into the following categories, 10-14 weeks, 15-20 weeks, and >21 weeks. The 10-14 weeks category accounts for those cases that were terminated with dilatation and curettage procedure, while the 15-20 week and >21 weeks categories were based on an arbitrary decision. 93 From observing these distributions it appears that neither the gestational age at termination nor the cytogenetic results are confounding factors in the ability to examine the affected tissues of specific ultrasound -identified or -suspected fetal abnormalities at autopsy following surgical termination procedures. However, limitations of these observations include the small number of cases examined and the coarseness of the gestational age groupings. The embryofeto-pathology reports were not examined to determine if the prenatal diagnosis was confirmed. Failure to confirm the prenatal diagnosis may be a result of false-positive ultrasound diagnosis or a result of the fragmented condition of the fetal parts precluding embryofeto- pathological examination. Such a bias is present in a report by Sinclair et al., (1996) that investigated the sensitivity of ultrasound screening for severe congenital heart defects in British Columbia. Embryofeto-pathology reports, fetal echocardiography reports, and neonatal cardiology reports were retrospectively examined for cases with specific structural heart defects in order to account for all ultrasound true positive cases and all fetal heart defects not seen by ultrasonography but found at autopsy or antenatal referral. However, they potentially overlooked cases in which severe congenital heart defects existed but the heart was not evaluated at autopsy, thus leading to a possible underreporting of false positive cases and an overestimation of the sensitivity of antenatal screening for severe congenital heart defects. This bias may be avoided by measuring the sensitivity of 94 ultrasound detection of fetal abnormalities in populations where all terminations of pregnancy are by means of medical procedures. 4.5 CNS, Heart, and Kidneys Evaluated at Autopsy An objective of this thesis was to determine if the ability to examine the CNS tissue, heart and kidneys at autopsy is influenced by: (1) the method of termination; (2) the results of prenatal cytogenetic investigations; and (3) the estimated gestational age at termination. In this analysis, the embryofeto-pathology reports were examined to determine if the CNS tissue, heart and kidney could be evaluated at autopsy. The results of Chi square analysis found that the ability to evaluate the CNS tissue, heart and kidneys at autopsy was significantly reduced following surgical termination procedures when compared to terminations by induction (table 3.7). These findings may be used to facilitate genetic counseling as they provide, for the first time, quantitative evidence that the ability to examine these organs at autopsy following surgical terminations is reduced - information that may help couples to make informed decisions regarding their choice of termination procedures. It should also be noted however, that following medical terminations or cases in which the fetus was spontaneously aborted or miscarried, the probability of evaluating these organs was not 100%. The inability to perform evaluations at autopsy in these rare cases appears to be due to severe autolysis, consequent to retention of the fetus following intrauterine demise. 95 Multiple logistic regression analysis was performed in order to determine if a relationship existed between the ability to evaluate the CNS tissue, heart, and kidneys at autopsy following surgical terminations and the results of prenatal cytogenetic investigations (table 3.8). This analysis (table 3.9) found that the ability to evaluate the CNS tissue and the heart at autopsy following surgical terminations was increased when the fetal karyotype was normal. No relationship between the prenatal cytogenetic results and the ability to evaluate the kidneys was found. Such a result is not unexpected as the kidneys were found to be resistant to the physical disruption of surgical termination procedures (table 3.4). It must be noted that the ability to evaluate these tissues by gross or histological examination and not the ability to make a diagnosis was under consideration in this analysis. From the results of this analysis, it appears that if the prenatal diagnosis is of a cytogenetic abnormality in which a recurrence risk can be offered prior to the termination, then the surgeon will perform a procedure which results in products of conception that are less amenable to thorough embryofeto-pathological examination. This may be due to the surgeon providing the fastest and most comfortable termination procedure for the patient. Conversely, in recognition of the need for detailed fetal examination when the results of the prenatal cytogenetic investigations are normal or unknown, it appears that the surgeon will perform a procedure which results in products of conception that are more amenable to thorough embryofeto- 96 pathological examination. In order to provide further evidence for this claim, a future investigation which compares the ability to evaluate tissues at autopsy following surgical terminations for prenatally diagnosed chromosomally normal fetuses with and without ultrasound diagnosed isolated anencephaly can be performed. It is assumed that a diagnosis and recurrence risk can be offered prenatally for ultrasound diagnosed isolated anencephaly. This analysis has not controlled for the skill of the surgeons performing the termination procedures. Thus, these results are potentially biased by different surgeons performing terminations for cases with prenatally diagnosed chromosome abnormalities and terminations for cases with prenatally diagnosed normal chromosomes. The multiple logistic regression analysis also assessed the relationship between the ability to evaluate the CNS tissue, heart, and kidneys at autopsy following surgical terminations and the estimated gestational age at termination (figure 3.2). This analysis (table 3.9) found that there was a significant increase in the ability to evaluate these organs following surgical terminations as the gestational age at termination increased. It is likely that the increasing resistance to physical disruption is due to the tissues becoming more fully formed and the structures firmer as the gestational age increases. Additionally, it may be postulated that the increase in the ability to evaluate these organs at autopsy following surgical termination procedures is due to the extent of cervical dilatation which has been found to increase as gestation 97 progresses and with the number of cervical dilators used (Munsick, and Fineberg, 1996). The surgeon may be able to perform the procedure with greater dexterity as the extent of cervical dilatation increases, and therefore, the ease with which the uterus can be evacuated may be proportionately increased. In order to determine the percentage by which the independent variables reduce the error of predicting the probability of being able to evaluate these tissues, in comparison to predictions based on the mean of the value of being able to evaluate these tissues in the sample, the Revalues 2 were calculated (table 3.10). The R L values 9.12%, 8.96%, and 9.15% for CNS, heart and kidney, respectively, were found. These uniformly low reductions in error indicate that these variables provide relatively small improvements in predicting the probability of being able to evaluate these tissues at autopsy. It is therefore likely that factors other than the prenatal cytogenetic results and the estimated gestation age at termination have significant effects on the probability that these tissues will be able to be evaluated at autopsy following surgical termination procedures. In most cases, the estimated gestational age at termination used in this analysis was determined by foot length measurements as recorded on the autopsy report. No correction in gestational age was made for cases with severe growth retardation. The discrepancy between the true gestational age and the gestational age as measured by foot length may have had a confounding influence on this analysis. 98 The use of cervical dilators may potentially influence the relationship between the gestational age at termination and the ability to evaluate these tissues. Depending on the number of laminaria or synthetic dilators used and the duration of use, the extent of cervical dilatation varies (Munsick, and Fineberg, 1996). Hence, the ability to evaluate these tissues at autopsy following surgical termination procedures may be related to cervical dilator utilization. Information regarding the utilization of cervical dilators was sought from the C.A.R.E programme at B.C.'s Women's Hospital. Only the total number of cervical dilators used in the surgical termination procedures of cases terminated between January 1st of 1995 to January 1st of 1996 was available. This information was of limited value to this analysis as it did not indicate the size of the cervical dilators, duration of use, or whether they were used in multiple sets. Future investigations enlisting the assistance of the surgeons performing the termination procedures may offer valuable insight into the relationship between the utilization of cervical dilators and the amenability of the products of conception to embryofeto-pathological examination. 99 5 Conclusion The results presented in this study provide, for the first time, a quantitative assessment of the utility of embryofeto-pathological examinations following surgical pregnancy termination procedures. When compared with medical pregnancy termination procedures, the amenability of the products of conception to embryofeto-pathological examination is reduced following surgical pregnancy termination procedures. Surgical termination was more likely to occur when the results of the prenatal cytogenetic investigations were abnormal than when the results were normal or unknown. This result indicates that the need for a complete embryofeto-pathological examination seems to be a meaningful element of the process by which couples choose between termination procedures. Surgical termination was found to be less likely to occur as gestational age progressed, regardless of prenatally diagnosed karyotype. No significant difference was observed between the ability to evaluate the tissues affected by anencephaly, cystic kidney disease, or fetal hydrops following surgical termination procedures versus medical termination procedures. These results indicate that fetal abnormalities exist that are resistant to the physical disruption inherent to surgical termination procedures. A significant reduction was observed between the ability to evaluate at autopsy the tissues affected by abdominal wall defects, or cystic hygroma following surgical termination procedures versus medical termination 100 procedures. While not statistically significant, similar reductions in the ability to evaluate the tissues affected by diaphragmatic defects or structural heart defects were observed. These results indicate that some fetal abnormalities exist that are susceptible to the physical disruption inherent to surgical termination procedures. A significant increase in the ability to evaluate the CNS tissue and heart at autopsy following surgical termination procedures was observed when comparing fetuses with prenatally diagnosed normal chromosomes and unkaryotyped fetuses to fetuses with prenatally diagnosed chromosomal abnormalities. These results indicate that the surgeon's recognition of the need for detailed fetal examination is an important determinant in the amenability of the products of conception to embryofeto-pathological examination. A significant increase in the ability to evaluate the CNS tissue, heart and kidneys at autopsy following surgical termination procedures was observed as the gestational age at termination increased. It is likely that the increasing resistance to physical disruption is due to the tissues becoming more fully formed and the structures firmer as the gestational age increases. Additionally, these results indicate that there is a correlation between the extent of cervical dilation and the amenability of the products of conception to embryofeto-pathological examination. 101 The ability to base a diagnosis on autopsy findings was observed to be less likely following surgical termination procedures when compared to medical termination procedures. This result, as well as the other results presented above, provide evidence that following surgical termination procedures, as compared to medical termination procedures, the amenability of the products of conception to embryofeto-pathological examination is reduced. This may have important clinical implications for women considering pregnancy termination following ultrasound diagnosis of fetal abnormalities. 102 References: Altman, D.C., Ed. Practical statistics for medical research. London: Chapman and Hall, 1991. American Institute of Ultrasound in Medicine, (1988) Bioeffects considerations for the safety of diagnostic ultrasound. Journal of Ultrasound in Medicine, Vol. 7, Sl-7. Azar, G.B., Snijders, R.J.M., and Gosden, C, (1991) Fetal nuchal cystic hygormata; associated malformations and chromosomal defects. Fetal Diagnosis and Therapy, Vol. 6, p. 46-57. Baird, P.A., Anderson, T.W., Newcombe, H.B., and Lowry, R.B., (1988) Genetic disorders of children and young adults: A population study. American Journal of Human Genetics. Vol. 42, p. 677-693. Bang, J., Back, J.E., Trolle, D., (1982) Ultrasound guided fetal intravenous transfusion for severe rhesus haemolytic disease. British Medical Journal, Vol. 284, p. 373-374. Bertagnoli, L., Lolatta, F., Gallicchio, R., Fantuzzi, M., Rusca, M., Zorzoli, A., and Deter, R.L. (1983) Quantitative characterization of the growth of the fetal kidney. Journal of Clinical Ultrasound, Vol. 11, p. 349-356. Bogart, M.H., Pandiant, M.R., Jones, O.W., (1987) Abnormal maternal serum chorionic gonadotrophin levels in pregnancies with fetal chromosome abnormalities. Prenatal Diagnosis, Vol. 7, p. 623-630. Brock, D.J.H., Sutcliffe, R.G., (1972) Alpha-fetoprotein in the antenatal diagnosis of anencephaly and spina bifida. Lancet, Vol. 2, p. 197-199. Brumfield, C.G., Davis, R.O., Hauth, J.C., Cosper, P., Colvin, E.V., Finley, S.C., (1991) Management of prenatally detected nonlethal fetal anomalies; is a karyotype of benefit? American Journal of Perinatology, Vol. 8, p. 255-258. Brumfield, C.G., Lin, S., Conner, W., Cosper, P., Davis, R.O., and Owen, J., (1996) Pregnancy outcome following genetic amniocentesis at 11-14 versus 16 to 19 weeks' gestation. Obstetrics and Gynecology, Vol. 88, p. 114-118. Bruner, J.P., and Hsia, Y.E., (1990) Prenatal Findings of Brachmann de Lange syndrome. Obstetrics and Gynecology, Vol. 76, p. 966-968. 103 Campbell, I.R., Dayton, D.H., and Sohal, G.S (1986) Neural tube defects: a review of human and animal studies on the etiology of neural tube defects. Teratology, Vol. 34, p. 171-187. Canadian Collaborative CVS-Amniocentesis Clinical Trial Group, (1989) Multicenter randomised clinical trial of chorion villus sampling and amniocentesis. First report. Lancet, Vol. 1, p. 1-6. Chervenak, F.A., Isaacson, G., Blakemore, K.J., Berg, W.R., Hobbins, J.C., Berkowitz, R.L., Tortora, M., Mayden K., and Hahoney, M.J., (1983) Fetal Cystic Hygroma. Cause and natural history. New England Journal of Medicine, Vol. 309, p. 822-825. Chescheir, N.C., and Reitnauer, P.J., (1994) A comparative study of prenatal diagnosis and perinatal autopsy. Journal of Ultrasound in Medicine, Vol. 13, p. 451-456. Chitty, L.S., Hunt, G.H., Moore, J., and Lobb, M.O., (1991) Effectiveness of routine ultrasonography in detecting fetal structural abnormalities in a low risk population. British Medical Journal, Vol. 303, p. 1165-1169. Coulson, C.C., Katz, V.L., and Kuller, J.A., Triple marker screening for aneuploidy. In Prenatal Diagnosis and Reproductive Genetics, Eds. Kuller, J.A., Chescheir, N.C., and Cefalo, R.C. St. Louis: Mosby, 1996. Crane, J.P., and Gray, D.L., (1991) Sonographically measured nuchal skinfold thickness as a screening tool for Down Syndrome: results of a prospective clinical trial. Obstetrics and Gynecology, Vol. 74, p. 726-728. Crist, T., Williams, P., Lee, S.H., and Hulka, J.F., (1983) Midtrimester pregnancy termination: A study of the cost effectiveness of dilatation and evacuation in a free-standing facility. North Carolina Medical Journal, Vol. 44, p. 549 - 551. Cunniff, C, Jones, K.L., and Jones, M.C., (1990) Patterns of malformation in children with congenital diaphragmatic defects. Journal of Perinatology, Vol. 116, p. 258-261. DiMaio, J.M., Baumgarten, A., Greenstein, R.M., Saal, H.M., Mahoney, M.J., (1987) Screening for fetal Down Syndrome in pregnancy by measuring alpha-fetoprotein levels. New England Journal of Medicine, Vol. 317, p. 342-346. 104 Drose, J.A., and Cyr, D.R., Fetal Echocardiography. In Fetal Sonography, Ed., DuBose, T.J. Philadelphia: W.B. Saunders, 1996. Drugan, A., Greb, A., Johnson, M.P., Krivchenia, E.L., Uhlmann, W.R., Moghissi, K.S., Evans, M.E., (1990) Determinants of parental decisions to abort for chromosome abnormalities. Prenatal Diagnosis, Vol. 10, p.483 - 490. Ellwood, DA., The role of ultrasound in prenatal diagnosis. In Handbook of Prenatal Diagnosis, Ed. Trent, R.J. Cambridge: University Press, 1995. England, M.A. (Ed) Life Before Birth, 2nd Edition. London: Mosby-Wolfe, 1996. Eydoux, P., Choiset, A., LePorrier, N., Thepot, F., Szpiro-Tapia, S., Alliet, J., Raymond, S., Viel, J.F., Gautier, E., Morichon, N., et al., (1989) Chromosomal prenatal diagnosis; study of 936 cases of intrauterine abnormalities after ultrasound assessment. Prenatal Diagnosis, Vol. 9, p. 255-269. Fisher, R., Partington, A., and Dykes, E., (1996) Cystic Hygroma: Comparison between prenatal and postnatal diagnosis. Journal of Perinatal Surgery, Vol. 31, p. 473-476. Fraser, F.C. (1974) Genetic Counseling. American Journal of Human Genetics, Vol. 26, p.636-659. Garmel, S.H., and DAlton, M.E., (1994) Diagnostic Ultrasound in Pregnancy: An Overview. Seminars in Perinatology, Vol. 18, p. 117-132. Goncalves, L.F., Jeanty, P., and Piper, J.M., (1994) The accuracy of prenatal ultrasonography in detecting congenital anomalies. American Journal of Obstetrics and Gynecology, Vol. 171, p. 1606-1612. Hall, J.G., Developmental Defects in Stillborn and Newborn Infants. In Developmental Pathology of the Embryo and Fetus. Eds. Dimmick, J.E., and Kalousek, D.K. Philadelphia. J.B. Lippinclott, 1992. Hahnemann, N., and Mohr, J., (1968) Genetic diagnosis in the embryo by means of biopsy from extraembryonic membranes. Bulletin of European Society for Human Genetics, Vol. 2, p. 23-29. 105 Hanna, J.S., Neu, R.L., and Lockwood, D.H., (1996) Prenatal cytogenetic results from cases referred for 44 different types of abnormal ultrasound findings. Prenatal Diagnosis, Vol. 16, p. 109-115. Holzgreve, W., Curry, C.J.R., Globus, M.S., Callen, P.W., Filly, R.A., and Smith, J.C., (1986) Investigation of Nonimmune Hydrops Fetalis. American Journal of Obstetrics and Gynecology, Vol. 150, p. 805-812. Holzgreve, W., Holzgreve, B., and Curry, C.J., (1985) Nonimmune hydrops fetalis; diagnosis and management. Seminars in Perinatology, Vol. 9, p. 52-67. Hoyme, H.E., Jones, M.C., Jones, K.L., (1983) Gastroschisis: abdominal wall disruption secondary to early gestational interruption of the omphalomesenteric artery. Seminars in Perinatology, Vol. 7, p.294-298. Johnson, J.M., Wilson, R.D., Winsor, E.J., Singer, J., Dansereau, J., and Kalousek, D., (1996) The early amniocentesis study: a randomized clinical trial of early amniocentesis versus midtrimester amniocentesis. Fetal Diagnosis and Therapy, Vol. 11, p. 85-93. Kafrissen, M.E., Schulz, K.F., Grimes, D.A., and Cates, W., (1984) Midtrimester abortion - intraamniotic instillation of hyperosmolar urea and prostaglandin F2- alpha vs. dilatation and evacuation. Journal of the American Medical Association, Vol. 251, p. 916-919. Kalousek, D.K., Baldwin, V.J., Dimmick, J.E., Norman, M.G., Cimolai, N., Andrews, A., and Paradice, B., Embryofetal-Perinatal Autopsy and Placental Examination, In Developmental Pathology of the Embryo and Fetus. Eds. Dimmick, J.E., and Kalousek, D.K. Philadelphia: J.B. Lippinclott, 1992. Kalousek, D.K., Fitch, N., and Paradice, B.A., Pathology of the Human Embryo and Previable Fetus, An Atlas. New York: Springer-Verlag, 1990. Kalousek, D.K., and Lau, A.E., Pathology of Spontaneous Abortion. In Developmental Pathology of the Embryo and Fetus. Eds. Dimmick, J.E., and Kalousek, D.K. Philadelphia: J.B. Lippinclott, 1992. Kalter, H. and Walkany, J., (1983) Congenital malformations. Etiologic factors and their role in prevention. New England Journal of Medicine, Vol. 308, p. 424-429. 106 Kaltreider, N.B., Goldsmith, S., and Margolis, A.J., (1979) The impact of midtrimester abortion techniques on patients and staff. American Journal of Obstetrics and Gynecology, Vol. 135, p. 235-238. Kenyon, S.L., Hackett, G.A., and Campbell, S., (1988) Termination of pregnancy following diagnosis of fetal malformation: the need for improved follow-up services. Clinical Obstetrics and Gynecology, Vol. 31, p. 97-100. Klatt, E.C., (1995) Pathologic examination of fetal specimens from dilation and evacuation procedures. American Journal of Clinical Pathology, Vol. 103, p. 415-418. Kline, S.B., Meng, H., Munsick, R.A., (1995) Cervical dilation from laminaria tents and cervical dilators used for 6 hours before abortion. Obstetrics and Gynecology, Vol. 86, p. 931-935. Kyle, P.M., Sepulveda, W., Blunt, S., Davies, G., Cox, P.M., and Fisk, N. (1996) High failure rate of postmortem karyotyping after termination for fetal abnormality. Obstetrics and Gynecology, Vol. 88, p. 859-862. Langer, J.C., Khanna, J., Caco, C, Dykes, E.H., Nicolaides, K.H., (1993) Prenatal diagnosis of gastroschisis; development of objective sonographic criteria for predicting outcome. Obstetrics and Gynecology, Vol. 81, p. 53-56. Ledbetter, D.H., Martin, A.O., Verlinsky, Y., Pergament, E., Jackson, L, Yang-Feng, T., Schonberg, S.A., Gilbert, F., Zachary, J.M., Barr, M., et al., (1990) Cytogenetic results of Chorionic Villus Sampling: high success rate and diagnostic accuracy in the United States Collaborative Study. American Journal of Obstetrics and Gynecology, Vol. 162, p. 495-501. Levi, S., Schaaps, J.P., De Havay, P., Coulon, R., and Defoort, P., (1995) End-result of routine ultrasound screening for congenital anomalies; The Belgian Multicentric Study 1984-92. Ultrasound in Obstetrics and Gynecology, Vol. 5, p. 366-371. Lloyd, J. and Laurence, K.M., (1985) Sequelae and support after termination of pregnancy for fetal malformation. British Medical Journal, Vol. 290, p. 907-909. Lubinsky, M., (1986) Current Concepts: VATER and other associations; historical perspectives and modern interpretations. American Journal of Medical Genetics, Vol. 26 (supplement 2) p. 219-236. 107 Manchester, D.K., Pretorius, D.H., Avery, C, Manco-Johnson, M.L., Wiggins, J., Meier, P.R., and Clewell, W.H., (1988) Accuracy of ultrasound diagnosis in pregnancies complicated by suspected fetal anomalies. Prenatal Diagnosis, Vol. 8, p.109-117. Maxwell, D.J., Johnson, P., Hurley, P., Neales, K., Allan, L., Knott, P., (1991) Fetal blood sampling and pregnancy loss in relation to indication. British Journal of Obstetrics and Gynecology. Vol. 98, p. 892-897. Melnick, M., and Myrianthopoulos, N.C., (1987) Studies in neural tube defects. II. Pathologic findings in a prospectively collected series of anencephalics. American Journal of Medical Genetics, Vol. 26, p. 797-810. Menard, S., (1995) Applied Logistic Regression Analysis. Sage University Paper series on Quantitative Applications in the Social Sciences, 07- 106. Thousand Oaks: Sage. Moerman, P., Fryns, J.P., Cornells, A., Bergmans, G., Vandenberghe, K., and Lauweryns, J.M., (1990) Pathogenesis of the lethal multiple pterygium syndrome. American Journal of Medical Genetics, Vol. 35, p. 415-421. Munsick, R.A., and Fineberg, N.S., (1996) Cervical dilation from multiple laminaria tents used for abortion. Obstetrics and Gynecology, Vol. 87, p. 726-729. Nicolaides, K.H., Snijders, R.J.M., Goshen, CM., Berry, C, and Campbell, S., (1992a) Ultrasonography detectable markers of fetal chromosomal abnormalities. Lancet, Vol. 340, p. 704-707. Nicolaides, K.H., Snijders, R.J.M., Cheng H.H., and Godsen, C, (1992b) Fetal gastro-intestinal and abdominal wall defects; associated malformations and chromosomal abnormalities. Fetal Diagnosis and Therapy, Vol. 7, p. 102-115. Nicolaides, K.H., Brizot, M. de L., Patel, F., and Snijders, R., (1994) Comparison of chorionic villus sampling and amniocentesis for fetal karyotyping at 10-13 weeks' gestation. Lancet, Vol. 344, p. 435-439. Nyberg, D.A., Resta, R.G., Luthy, D.A., Hickok, D.E., Mahony, B.S., Hirsch, J.H. (1990) Prenatal sonographic findings of Down syndrome; review of 94 cases. Obstetrics and Gynecology, Vol. 76, p. 370-377. 108 Nyberg, D.A., Kramer, D.A., Resta, R.G., Kapur, R., Mahony, B.S., Luthy, D.A., Hickok, P., (1993) Prenatal Sonographic Findings of Trisomy 18; review of 47 cases. Journal of Ultrasound in Medicine, Vol. 2, p. 103-113. Orlandi, F., Damiani, G., Jakil, C., Lauricella, S., Bertolino, O., Maggio, A., (1990) The risks of early cordocentesis (12-21weeks): Analysis of 500 procedures. Prenatal Diagnosis, Vol. 10, p. 425-428. Phillips, O.P., Elias, S., Shulman, L.P., Anderson, R.N., Morgan, C.D., Simpson, J.L., (1992) Maternal triple screening for fetal Down Syndrome in women less than 35 years of age using alpha- fetoprotein, hCG and unconjugated estriol; a prospective 2 year study. Obstetrics and Gynecology, Vol. 80, p. 353-358. Rayburn, W.F. and Laferla, J.J., (1986) Mid-Gestational abortion for medical or genetic indications. Clinics in Obstetrics and Gynecology, Vol. 13, p. 71-82. Reuss, A., Wladimiroff, J.W., and Niermeyer, M.F., (1991) Sonopgraphic, clinical and genetic aspects of prenatal diagnosis of cystic kidney disease. Ultrasound in Medicine and Biology, vol. 17, p. 687-694. Rizzo, N., Pittalis, M.C., Pilu, G., Perolo, A., Banzi, C, Visentin, A., and Bovicelli, L., (1996) Distribution of abnormal karyotypes among malformed fetuses detected by ultrasound throughout gestation. Prenatal Diagnosis, Vol. 16, p. 159-163. Schulz, K.F., Grimes, D.A., and Cates, W.J.Jr., (1984) Measures to prevent cervical injury during suction curettage abortion. Lancet, i p. 1182-1184. Shen-Schwarz, S., Neish, C, and Hill, L.M., (1989) Antenatal ultrasound for fetal anomalies: importance of perinatal autopsy. Pediatric Pathology, Vol. 9, p.1-9. Shoukri, M.M., and Edge, V.L., Eds. Statistical methods for health sciences. Boca Raton: CRC Press, 1996. Shulman, L.P., Ling, F.W., Meyers, CM., Shanklin, D.R., Simpson, J.L., and Elias, S., (1990) Dilation and evacuation for second-trimester genetic pregnancy termination. Obstetrics and Gynecology, Vol. 75, p. 1037-1040. 109 Sinclair, B.G., Sandor, G.G.S., and Farquharson, D.F. (1996) Antenatal screening for severe congenital heart disease in British Columbia. British Columbia Medical Journal, Vol. 38, p. 206- 210. Salvesen, S.A., and Eik-Nes, S.H., (1996) Is ultrasound unsound? A review of epidemiological studies of human exposure to ultrasound. Ultrasound in Obstetrics and Gynecology, Vol. 6, p. 293-298. Smith, A., Bannatyne, P., Russell, P., Ellwood, D., den Dulk, G., (1990) Cytogenetic studies in perinatal death. Aust. NZ. Journal of Obstetrics and Gynecology, Vol. 30, p. 206-210. Smith, A.S., Cytogenetics and Prenatal Diagnosis. In Handbook of Prenatal Diagnosis, Ed. Trent, R.J. Cambridge: University Press, 1995. Steele, M.W., and Berg, W.R., Jr., (1966) Chromosome analysis of human amniotic fluid cells. Lancet, Vol. 1, p. 383-385. Suslak, L., Scherer, A., and Rodriguez, G., (1995) A support group for couples who have terminated a pregnancy after prenatal diagnosis: recurrent themes and observations. Journal of Genetic Counseling, Vol. 4, p. 169-178. Thomas, R.L., and Blakemore, K.J., (1990) Evaluation of elevations of maternal serum alpha-fetoprotein: A review. Obstetrical and Gynecological Survey, Vol. 45, p. 269-283. Van Allen, M.I., Kalousek, D.K., Chernoff, G.F., Juriloff, D., Harris, M., McGillivray, B.C., Yong, S.L., Langlois, S., MacLeod, P., Chitayat, D., Friedman, J.F., Wilson, R.D., McFadden, D., Pantzar, J., Ritchie, S., and Hall, J.G., (1993) Evidence for multi-site closure of the neural tube in humans. American Journal of Medical Genetics, Vol. 47, p. 723-743. Van Zalen-Sprock, M.M., Van Vugt, M.G., Karsdorp, V.H.M., Mass, R., Van Geijn, H.P. (1991) Ultrasound Diagnosis of Fetal Abnormalities and Cytogenetic Evaluation. Prenatal Diagnosis, Vol. 11, p. 655-660. Wald, N.J., Cuckle, H.S., Densem, J.W., Nanchahal, K., Canick, J.A., Haddow, J.E., Knight, G.J., and Palomaki, G.E., (1988) Maternal serum unconjugated oestriol as an antenatal screening test for Down syndrome. British Journal of Obstetrics and Gynecology, Vol. 95, p. 334-341. 110 Wang, B.T., Peng, W., Cheng, K.T., Chiu, S.F., Ho, W., Khan, Y., Wittmann, M., Williams, J., 3rd, (1994) Chorionic Villus Sampling; Laboratory experience with 4000 consecutive cases. American Journal of Medical Genetics, Vol. 53, p. 307-316. Warkany, J., Congenital Malformations: notes and comments. Chicago: Year Book Medical Publishers, 1971. Wells, E.C. and Hulka, J.F., (1989) Cervical dilation: A comparison of Lamicel and Dilapan. American Journal of Obstetrics and Gynecology, Vol. 161, p. 1124-1126. Weston, M.J., Porter, H.J., Andrews, H.S., and Berry, P.J., (1993) Correlation of antenatal ultrasonography and pathological examinations in 153 malformed fetuses. Journal of Clinical Ultrasound, Vol. 21, p. 387-392. White-Van Mourick, M.C.A., Conner, J.M. and Ferguson-Smith, M.A., (1992) The Psychological Sequelae of a Second Trimester Termination of Pregnancy for Fetal Abnormality. Prenatal Diagnosis, Vol. 12, p. 189-204. Wilson, R.D., Morrison, M.G., Wittmann, B.K., and Coleman, G.U., (1988) Clinical follow-up of fetal urinary tract anomalies diagnosed prenatally by ultrasound. Fetal Therapy, Vol. 3, p. 141-151. Wilson, R.D., Farquharson, D.F., Wittmann, B.K., and Shaw, D., (1994) Cordocentesis: overall pregnancy loss rate as important as procedure loss rate. Fetal Diagnosis and Therapy, Vol. 9, p.142-148. Wilson, R.D., Johnson, J.A., and Dansereau, J., (1996) Pregnancy outcome following amniocentesis at 11 - 14 versusl6-19 weeks gestation. Obstetrics and Gynecology, Vol. 88 (4 Pt 1), p. 638-639. Witt, D.R., Hoyme, H.E., Zonana, J., Manchester, D.K., Fryns, J.P., Stevenson, J.G., Curry, C.J.R., and Hall, J.G., (1987) Lymphedema in Noonan Syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature. American Journal of Medical Genetics, Vol. 27, p. 841-857. Yang, P., Beaty, T.H., Khoury, M.J., Chee, E., Stewart, W., and Gordis, L„ (1992) Genetic-epidemiologic study of omphalocele and gastroschisis; evidence for heterogeneity. American Journal of Medical Genetics, Vol. 44, p. 668-675. Appendix I Dataform PMGP Chart No: Name: . Birth Date: Maternal Age: Maternal History (G, P, SA, S, L, N): PMGP Indication: Prenatal Karyotype: Ultrasound Chart No: Ultrasound Date: Gestational Age: Indication On Ultrasound Chart: Amniotic Fluid Abnormalities: Diagnosis: Disorder Classification: Obstetrical Chart No: Pathology Chart No: Obstetrician: Fetal Condition: Termination Site: Gestational Age: Termination Method: Multiple Gestation: _ Pretermination Fetal Death Number of Laminaria: Duration of Laminaria: Extent of Cervical Dilation Tissues Examined at Autopsy: CNS: Vasculature: G.I.: Urinary: Resp: Extremities: Heart: Placenta: Musculo - Skeletal: Investigations: Diagnosis: Disorder Classification: Appendix II Ultrasound Findings 112 Code EGA EGA Amniotic Method Narrow Diagnosis: No: Dates U/S Fluid oITA Code 1 756.18 Fetal Spine cannot be clearly identified suggesting absent ossification 1 228.1 Cystic Hygroma Is Identified 1 756.08 Calvarium Appears Poorly Ossified 1 756.44 Imp: Probable Diagnosis is Achondrogenesis 1 Transcervical CVS 1 No Evidence of Fetal Anomalies 15 740.02 Anencephalic Fetus is Present 15 No Other Anomalies Detected 32 + 3 32 + 2 wk Absent End Diastolic Flow on Doppler 32 + 3 32 + 2wk 754.88 Trunk » 90%centile due to 32 + 3 32 + 2 wk 778.0 Massive Ascites 32 + 3 32 + 2wk 778.0 Hydrops Still Present 32 + 3 32 + 2wk 748.69 R Lung Compressed 32 + 3 32 + 2 wk 778.5 Marked Scalp Edema 32 + 3 32 + 2wk 511.9 Large R Sided Pleural Effusion 32 + 3 32 + 2wk 778 5 Marked Ascites Fetal Size Corresponds to Dates CVS Transabdominally 18+ 1 wk 745 63 AV Canal Defect - 2 AV Valves + Outflow Appears N 18 + 1 wk Cardiac Defect Not of Lethal Nature 18 + 1 wk 755.50 Absent Middle Phalanx 5th Digit 18+ 1 wk 755.38 Short Femur 19 18+ 1 wk 756 os Flat Occiput 19 18+ 1 wk 753.20 Moderate R Hydronephrosis 16 + 5 Cardiac Structures do not appear normal but too early to assess 16 + 5 746 so Heart in R Chest 16 + 5 Fetal Size is Consistent With Dates 16 + 5 L Thorax Occupied by Stomach and Bowel 16 + 5 756.68 R Hemidiaphragm appears intact 16 + 5 753.20 Bilateral Dilatation of Renal Pelvis 16 + 5 L Hemidaphragm not Demonstratable 2 cm Posterior Wall Fibroid 762.8 Moderate Sized Area of Membrane Seperation Transcervical CVS 10 + 4 Large Fibroid 10 x 10 cm L side of Uterus In Lower Seg. btwn fetus & cervix - Possible risk for obst. of labour 10 + 4 CVS for DNA Studies Only 15 + 16 + 1 wk 742.9 Spine and Intracranial Detail Appear Normal 15 + 16 + 1 wk No Anomalies Seen 10 + 6 Fetal Size Corresponds with Dates 11 785 D Fetal Tachycardia 11 744.68 Nuchal Thickening 11+2 778.5 Generalized Subcutaneous Edema 10 Fetal Size Corresponds with Dates 13 + 4 Transcervical CVS 12 778.0 Severe Hydrops 12 Probable Chromosomal Anomaly 744.88 Small Nuchal Membrane Seen (Likely Variant of Normal) 753.20 Mild Bilateral Hydronephrosis 742 s No Other Intracranial of Spinal Anomalies Seen 742.48 Splaying of the Cerebellum 742.39 Mild Ventriculomegaly 742 48 Enlargement of Cisterna Magna Size = Ultrasound Dates 27 + 3 754 82 Fetal Chest Size - 23 Wks (Lower End of Normal) 27 + 3 751 6 Liver Echogenicity Mildly Increased - ? Early Finding 27 + 3 761.2 Severe Oligohydramnios Appendix II Ultrasound Findings EGA EGA Amniotic Method Narrow Diagnosis: Dates U/S Fluid of TA Code: 27*3 26 4 2 Kidneys Do Not Appear Grossly Enlarged, Kidneys difficult to see as borders indi 12 + 6 13+1 , , Too early for good anatomic detail 12 + 6 13+1 1 1 No evidence of significant nuchal edema (2mm) or other abn. for gest. age 12 + 6 13+1 1 1 Genetic Amniocentesis, single tap for clear fluid (FH +ve after) 12 + 6 13* 1 1 762.8 The amnion appears to still be seperated circumferentially 14-15 14-15 Fetus, Fluid, Placenta Normal 16 3 1 753.8 Bladder Seen 16 3 1 753.3 Kidney's Seen 16 3 1 761.2 Moderate Oligohydramnios 14 , , Too Early to Evaluate Fetal Detail 14 ' 1 Genetic Amniocentesis 16 , , 764.9 Fetal Biometry at - 10%centile for Gest Age 16 1 1 Fetal Detail limited due to fetal size 16 1 Fetal Detail limited due to maternal body wall 10 + 1 , 4 Fetal Size Corresponds with Menstral Dates 15 • 1 1 2 Fetal Size Consistent with Dates 16+1 15 + 1wk 1 2 Apparently Normal Gestation at 15 + 1 wk by U/S 16 16 + 1 wk < ' No Anomalies Seen 16*2 1 2 741.01 Probable Mild, Symmetrical Hydrocephalus 16 + 2 1 2 741.01 Associated Arnold-Chiari Malformation 16*2 1 2 755.6 Lower Limbs Appear to move Actively 16 + 2 1 2 No Other Fetal Abnormalities 16*2 1 2 741.01 A High Thoraco-Lumbar Meningomyelocele 12 + 3 1 1 Successful Eariy Amniocentesis 12 + 3 , 1 Fetal Size Corresponds with Menstral Dates 20 + 1 1 2 511.9 Bilateral Pleural Effusions 20 + 1 1 2 Internal Organs Appear Normal and Complete 20 + 1 1 2 778.5 Generalized Subcutaneous Edema 20 + 1 1 2 778.5 Mild Ascites 10 + 3 1 1 Fetal Size Corresponds to Dates 10 + 3 < ' Successful CVS 10 + 5 1 2 Fetal Size Corresponds with Menstral Dates 10 + 5 1 2 Peroxisomal Activity Tests on CVS tissue 16 1 2 Likely Abnormal Heart 16 1 2 740.08 Calvarium Not Found 16 1 2 742.09 Encephalocele Present 16 1 2 742.58 Abnormal Appearing Spine 22 1 1 753,16 Small Echogenic and Dysplastic Kidneys 22 1 1 740.01 Acrania 22 1 1 511.9 R Pleural Effusion 22 1 1 749.12 Midline Cleft Lip 22 1 1 756.15 Hemivertebrae at T12 10 + 5 1 1 Fetal Size Conesponds with Menstral Dates 13 + 4 12 + 5 2 4 761.2 Mild Oligohydramnios 13*4 12 + 5 2 4 Probably N Growth Based on LMP 13 + 4 12 + 5 2 4 13 wk Sized Fetus 13 + 4 12 + 5 2 4 778,0 Fetus with upto 5 mm Thick Generalized Tissue Edema Consistent with Hydrops 13 + 4 12 + 5 2 4 Detailed Fetal Anatomy Not Yet Readily Assessable 15 1 1 Fetal Intracranial Structures Difficult to Assess Due to Position 15 1 1 754.20 Marked Scoliosis 15 1 1 756.18 Spine Defective from lower thoracic segments down 15 1 1 754.22 Hyperextension of the Thoracic Region 10 1 1 Fetal Size Corresponds With Menstral Dates 16 + 2 15+ 1 wk 1 2 Genetic Amniocentesis 16 + 2 15 + 1 wk 1 2 No Anomalies Seen Today 1 756.17 Dysplastic Develop'nt of Sacrum c Apparently Absent S3-5 & Hypoplastic S1-2 segments raising the poss'y of Partial SacraJ Agar Appendix II Ultrasound Findings 114 Code EGA EGA Amniotic Method Narrow Diagnosis: No: Dates U/S Ftud of TA Code. 16 1 1 753 3 Fetal Kidneys are Poorly Seen 16 1 1 Cardiac Scan, Ail Veins Seen and Appear Normal 16 1 1 741.94 Lower End of Spine Is Not Well Seen But Appears To Be Enclosed (ie. Small Sacral Spina Bifida) sues 17 15+1wk 1 1 741.98 Lumbosacral Meningomyelocele 17 15 + 1wk 1 1 764.9 Slow Fetal Growth at 10%centile for dates 17 15 + lwk i 1 Extremities Appear Normal 31261 17 16 + 1 wk 2 2 778.5 Ascites Present 17 16 + 1 wk 2 2 778 0 Generalized Severe Hydrops 17 16+1wk 2 2 No Other Anomalies Seen 33277 15 + 2 i 2 744.88 Web Posterior to the Neck Seen in Multiple Views 15 + 2 1 2 758.00 Imp: Down's Syndrome (Obstructive Jugular Lymphatic Synd. associated with cong. anomalies 31281 16 15 + 1 wk 1 2 Genetic Amniocentesis ' 16 15 + 1wk 1 2 744.9 Fetal Face Not Adequately Assessed Today 16 15 + 1wk 1 2 4 Chamber Heart View Not Adequately Assessed Today 35420 18 + 2 1 1 742.39 Midline Struct's not under pressure suggesting 1° deform'n problem as opposed to obstructive hydroceph. 18 + 2 i 1 758.10 Imp: Chromosome Anomaly ? T13 18 + 2 1 1 742.28 ? Possible Absent Vermis 18 + 2 1 1 742.23 ? Possible Absent Cerebellum 18 + 2 i 1 742.39 Severe Ventriculomegaly 18 + 2 i 1 756.08 Head Enlarged - 21-22 wks in size 18 + 2 1 1 742.48 No Posterior Brain Structures Seen 35439 17 + 6 1 2 741.05 Lower Lumbar Meningocele 17 + 6 1 3 741.05 Evidence of Hydrocephalus 35444 20 + 3 4 2 753.3 No Obvious Renal Structures Seen 20 + 3 i 2 Specific Diagnosis Not Possible - suggest autopsy following delivery 20 + 3 4 2 Severe Fetal Anomalies, Lethal anomalies seen 20 + 3 4 2 761.2 No Amniotic Fluid Present 20 + 3 4 2 754 82 Chest Severely Compressed 20 + 3 4 2 778.0 Massive Fetal Ascites 35468 17 1 2 756.08 Head Shape Is Unusual - Lemon Sign Seen 17 1 2 756.1 Structurally the Spine Looked Normal 35470 21 4 3 761.2 Severe Oligohydramnios 21 4 3 742.48 Abnormal Posterior Fossa 21 4 3 742.39 Intracranial Detail Is Abnormal with Enlarged Ventricles 21 4 3 742.48 Banana Sign - Cerebellum 21 4 3 756.08 Lemon Sign 21 3 753.16 Fetal Kidneys Bilaterally Appear Dysplastic with Multiple Small Cysts (Potters Type IV) 21 4 3 759.7 Imp: MCA - Lethal Outcome 21 4 3 753.8 Bladder Not Seen ? Ruptured 21 4 3 778.5 Mod. - Severe Ascites (Urinary Ascites) 21 4 3 759.84 Possible ? Sirenomelia 21 4 3 759.84 Lower Limbs Not Demonstrated to Move Seperately (? Fused) 35478 14 12 + 5 1 2 228.1 Posterior Nuchal Hygroma 14 12 + 5 1 2 758.69 Imp: Likely Turners (or Noonan's) 14 12 + 5 1 2 778.5 Mild Edema (probably early hydrops) 14 12 + 5 i 2 753.9 Cystic Mass in Lower Abd. and Bladder (prob. enlarged bladder 2° to lower G.U.T. Obstruction 35613 11+5 1 1 Fetal Size Corresponds With Menstral Dates 31611 16 15.5+1wk i 2 742.48 Multiple Small Cystic Spaces in Both Choroid Plexuses (largest 3mm) 31631 17 1 2 742.48 Bilateral Small Choroid Plexus Cysts 17 1 2 No Other Anomalies Seen 17 i 2 755.61 L Foot Not Seen 17 1 2 755.38 L Lower Leg - Tib/Fib Half Normal Length 17 1 2 754.73 R Leg - Club Foot 35635 16 15+1wk 1 1 No Other Anomalies Seen Today 16 15 + 1wk 1 1 740.02 Anencephaly 744.88 Nuchal Edema Doppler fo AV valves Difficult Because of Movement of Fetus 764 9 Limb Length 2 wks behind dates 745 63 Possibility of Small AV Septal Defect Remains 746.88 Pericardial Effusion 29 Gender Not Seen 29 MuRicystic Dysplastic Kidneys 29 No Bladder Seen Appendix II Ultrasound Findings 115 EGA EGA Amniotic Method Narrow Diagnosis: Dates U/S Fluid of TA Code: 761.2 Severe Oligohydramnios, AFI = 0 16 + 3 1 740.02 What Looks Like Anencephaly 16 + 3 1 756.08 Since the boney base of the post, cranial fossa seems to be present I doubt acranium or other amniotic band syndrome with acranium Intracranial Structures & Spine Appear Normal 16 + 4 756.08 Head - Lemon Sign 16 + 4 742 48 Cerebellum - Banana Sign 16 + 4 741 Sacral Meningocele 16 + 4 741.01 Suspicious for Amold-Chiari Malformation No Other Anomalies Seen Brain Structures Appear to Be Present 74001 Variant of Acrania, with absence of parietal and occipital skull bones 18 + 1 wk 741.01 Change In Shape of Cerebellum to Suggest Associated Amold-Chiari Malformation 18 + 1 wk 741.01 Mild Hydrocephalus is Present 18 + 1 wk 755 6 Lower Limb Movement is Observed 18+ 1 wk 741.06 A Lower Sacral Meningocele is Present 18+ 1 wk No Other Anomalies Are Seen 753.01 L Kidney not seen 761.2 Severe Oligohydramnios 753.16 R Fetal Kidney Enlarged with Multiple Cysts 21 + 2 wks 754.78 ? eversion L Foot 21 + 2 wks 753 20 L Fetal Hydronephrosis 22 + 3 21 +2 wks 755 52 L wrist seems to be flexed over forearm 22 + 3 21 +2 wks 755 51 Hands not seen opening during the scan 21 + 2 wks Profile not well seen today 21 + 2 wks 754 78 R Foot appears fixed in dorsiflexion All Long Bones Abnormally Shaped 23 Imp: Likely Thanatophoric Dwarfism 23 No Other Anomalies Seen Fetal Size Appropriate for Dates 23 754.82 Severely Constricted Chest 23 756.08 Frontal Bossing ATI Long Bones 20 mm, - 16 wks size Mild Oligohydramnios Fetal Size Corresponds with Menstral Dates 17 15 + 1 wk 764.9 IUGR - 2 wks behind in growth 17 15+ 1 wk 778.0 Generalized Mild Fetal Hydrops 17 15+ 1 wk 761.2 Moderate Oligohydramnios 20 764.9 Fetal Size at 10th%centile for Dates 20 778.0 Ascites 20 761.2 Mod.-Severe Oligohydramnios 20 778.0 Hydropic Fetus 20 228.1 Severe Cystic Hygroma, Multiple, Large Fluid Filled Structure surrounding neck and chest 20 778.5 Skin Edema 22 Cistema Magna is prominent but measure within normal range 22 Cardiac Scan: R Atrium + Ventricle » than L, probably compression defect rather than structural 22 1 cm diameter bilateral choroid plexus cysts 22 Cerebellum Appears Normal 22 Cardiac Scan: Outflow tracts appear N 22 Cardiac Scan: Mediastinal Structures Displaced to R 22 L Fetal Kidney Today Appears Multicystic 22 Cordocentesis - Single Attmept was Successful/ FH +ve after 22 756.61 Diaphragmatic Hernia - Stomach is in the Chest Cavity and Heart is Displace Posteriorly to right 22 753.20 Fetal Renal Pelves are Prominent with the L > R 22 753.01 R Kidney Difficult to See Due to Fetal Position 18+1 16 + 1 wk No Other Fetal Anomalies Identified 18+1 16 + 1 wk Moderate Size Cystic Hygroma is Present (Hygroma 34 x 14 mm) CVS, Transabdominal - Successful 26-29 No Other Anomalies Seen 26-29 742.39 Imp: Hydroencephaly or Severe Hydrocephaly 26-29 764.9 Fetal Age by Femur - 26 wks 26-29 764.9 Fetal Age by Trunk Size - 29 wks 26-29 742.28 No Cortical Tissue Identified 26-29 742.39 Severe Dilation of Both Ventricles Appendix II Ultrasound Findings EGA EGA Amniotic Method Narrow Diagnosis: Dates U/S Fluid of TA Code: 22 7612 Severe Oligohydramnios 22 Amniocentesis - 2nd Attempt - min. ami of fluid, discontinued due to patient intolerance 20 + 3 21 + 2 wks 756 08 The Head Could Not Be Seen Well 20 + 3 21 + 2 wks 755 61 Probable Rockerbottom Deformity is suggested, L foot 20 + 3 21 + 2 wks 754 73 Clubfoot, R fOOt 20 + 3 21 + 2 wks 751 5 R Colon is Distended with Fluid 20 + 3 21 + 2 wks 553.1 Defect is an Omphalocele rather than Gastroschisis (Aid Wall Oef is Present) liver a small bowel si n to lie outside the al 511.9 Small Pleural Effusions 778.0 Ascites 778 5 Moderate Severe Skin Edema 228 1 Severe Cystic Hygroma No Other Anomalies Seen Amniocentesis Fetal Cardiac, Spinal and Other Anatomy Appear Normal 553 1 A Moderate to Large Omphalocele is Present with the Liver and some of the small bowel extruded 19+ 1 wk No Other Anomalies Seen 19+ 1 wk 742 39 Severe Hydrocephalus 16 + 2 11 +4d 778 5 Severe Skin Edema Involving the Entire Fetus 16 + 2 11 +4d 228.1 Large Cystic Hygroma Present 16 + 2 11 +4d 764 9 Fetal Size Does Not Correspond to Dates 27 23-24 764.9 Fetal Size 23 - 24 wks, Severe 27 23-24 745 59 ASD 27 23-24 746.1 Abn Tricuspid Valve 27 23-24 75248 ? Ambiguous Genitalia 27 23-24 747.5 2 Vessel Cord 16 + 1 14 + 6 , 2 750.7 Stomach Not Seen 16 + 1 14 + 6 i 2 756.19 Spine Widens in Neck Area 16 + 1 14 + 6 1 2 740.01 Absence of Fetal Skull (Acrania) 13 + 3 14+1 wk , 2 744.88 Nuchal Edema with a Prominent Skin Line That Extends Along the Spine 13 + 3 14+1 wk 2 Adnexal Mass is Seen (Incidental Finding, Maternal) 17 + 2 19+1 wk , 1 742.30 Imp: Obstructive Lesion of the Aqueduct of Sylvius 17 + 2 19+1 wk i 1 742.5 Spine Appears Intact 17 + 2 19 • 1 wk i 1 4 Chamber and Short Axis View of Heart Appears Normal 17 + 2 19 + 1 wk 1 1 747.5 2 Vessel Cord is Seen 17 + 2 19 + 1 wk 1 1 742.39 Cerebral Mantle 0.5 cm in thickness (thin) 17 + 2 19 + 1 wk i 1 742.39 3rd Ventricle is Also Dilated with a Diameter of 0.3 cm 17 + 2 19 + 1 wk 1 742.39 Severe Degree of Symmetric Hydrocephalus Present (LVR - 77%) 20 2 778.0 Ascites Appear Increased From Yesterday 20 i 2 789.3 Aspiration of Fetal Intra-Abdominal Cyst (?Bladder, ? Urachal Cyst) 20 1 2 No Pericardial Effusion Seen Today ? 19+1 wk , 2 No Other Anomalies Seen ? 19+1 wk i 2 755.88 Abnormally Shaped L Lower Leg Bone ? 19+1 wk 1 2 742.39 Moderate Hydrocephalus 11+6 1 1 Fetal Size Corresponds To Menstral Dates 18 + 2 16 + 6 3 1 761.2 Mild to Mod. Oligohydramnios 18 + 2 16 + 6 3 1 764.9 Severe Asymmetric IUGR 17 + 2 1 2 741.01 Small Sacral Meningocele 17 + 2 1 2 741.01 Mild Hydrocephalus 17 + 2 1 2 741.01 Arnold-Chiari Malformation 18 , 2 778 0 Mild Fetal Generalized Hydrops 18 1 2 427,8 Frequent Episodes of Bradycardia 18 1 2 762.28 Abnormally Thick Placenta (5cm) 18 1 2 Imp: Very Likely Chromosome Anomaly 18 1 2 746 99 Abnormal Heart 18 1 2 553.1 Small Omphalocele 18 2 764.9 All Long Bones are < 10%centile (15-16 wk size) 12 + 6 < 4 Fetal Size Corresponds with Menstral Dates 12 + 4 < 1 228.1 Cystic Hygroma - cystic structure extending from the occiput to midthorac 17 4 , 753.00 Imp: Bilateral Renal Agenesis 17 4 1 Unable to See Any Fetal Renal Structures Appendix II Ultrasound Findings 117 EGA EGA Amniotic Method Narrow Diagnosis: Dates U/S Fluid ofTA Code: 761.2 Severe Oligohydramnios 17 756.79 Fetai Abdomen is Distended 17 778.0 Substantial Ascites 511 9 Pleural Effusion 778.5 Substantial Lymph Edema in the Trunk 228.1 Substantial Cystic Hygroma Behind the Neck and Cranium 17 + 5 16 + 1 wk No Other Anomalies Were Seen Although Detailed Fetal Cardiac U/S Should Be Done at - 18 wks 17 + 5 16 + 1 wk Afid. Wei Defect {? Omphalocele) seen today. It's wel circumscribed & meas. 13x15x16 cm & doasni contain tvar. spleen or stomach 17 + 5 16 + 1 wk 2 week discrepancy between U/S size and Menstral Dates 13 + 5 742.5 Spine Not Identifiable 13 + 5 A Pulsating Structure (heart)( 152/min) is seen in what appears to be hanging outside 755.88 4 Limbs Seen Grossly Abn * Short Long Bones Not Individually Identified 756.08 Head Seen, Grossly Normal in Shape No Normal Abdominal Organs Identified Severe Oligohydramnios Normal Fetal Growth for Dates Reevaluation for 2 1/2 hrs failed to show renal tissue 753.00 Imp: Renal Agenesis 753.8 Reevaluation for 2 1/2 hrs failed to show bladder 20 + 2 wks No Other Anomalies Seen 21 20 + 2 wks Mild R Club Foot 21 20 + 2 wks Meningomyelocele (Large Spinal Defect, Reaching from T12 to Sacrum) 21 20 + 2 wks Severe L Club Foot Successful CVS ? Fibroid (5.5x5x3.5 cm) seen in post, aspect of uterus just above Cx 16 + 1 wk Nuchal Area is Thickened 16 + 1 wk Small Area That Looks Cystic and Probably Represents a small Cystic Hygroma 16 + 1 wk The Heart Could Not Be Seen Wen Today 16 + 1 wk No Other Fetal Anomalies Seen Today Fetal Size Appropriate for Dates 19 + 3 761.2 Severe Oligohydramnios 19 + 3 771,2 Imp: Suggest Viral Infection +/- Chromosomal Anomaly 19 + 3 No obvious Limb, Spinal, (?), or Renal Anomalies 19 + 3 17 742,23 Small Cerebellum (12 mm obs. vs 19 mm exp.) 19 + 3 17 742.39 Prominent Cerebral Ventricles ( ? Early Ventriculomegaly) 19 + 3 17 Pericardial Effusion 19 + 3 17 Small Bilateral Pleural Effusions 19 + 3 778.0 Considerable Fetal Ascites 751.88 Hepatosplenomegaly 24 + 3 778.5 Scalp Edema 24 + 3 778.0 Ascites, etc... 24 + 3 778.0 Significant increase in Hydrops 24 + 3 779.9 No FH or Movements 24 + 3 779.9 Imp: Intrauterine Demise Size Appropriate for dates CVS - First Attempt Successful 20 753.34 Fetal Kidneys > 90th %centile for dates 20 Kidneys Very Echogenic 20 753.8 No Bladder Seen 20 761.2 Severe Oligohydramnios 20 762.2B 2 Placental Cysts - 2 cm in diameter with echogenic area inside 12 + 6 11 +3d Normal Growth and Fluid 12 + 6 11 + 3 d Soft Tissue Edema surrounding the entire fetus, consistent with hydrops Genetic Amniocentesis No Other Demonstratable Abn 23 + 2 755.20 Complete Absence of Both Upper Limbs 23 + 2 755,39 Rudimentary & Disorganized Lower Limbs, Bilaterally 23 + 2 755.39 An 8 mm Long Femur and Cross Section of Tib/Fib were clearly seen on one side of the fetus 23 + 2 747,5 2 Vessel Cord is Present 23 + 2 753.32 Fetal Kid. maybe more intenor in tocofnraisin g the poss. of Horseshoe Kid, (more medial loc of infr poles than their sup'i 740.08 No Evidence of a Normal Cranium 756.14 The Cervical Spine was also abn. with widening of interpedicular distance near the base of the skull Appendix II Ultrasound Findings 118 Code EGA EGA Amniotic Method Narrow Diagnosis: No: Dates U/S Fluid or TA Code: 36992 15+6 1 1 742.48 Cerebellum Shows Banana Sign consistent with Caudal Herniation 15+6 1 1 741.94 Small Sac low on sacrum, consistent with small sacral spina bifida 36993 19 18 1 2 18 Wk Sized Fetus 19 18 1 2 740.02 Anencephalus 19 18 1 2 No Other Anomalies Seen 37114 ? 20 + 2 1 1 742.26 Imp: ? Lobar Holoprosencephaly/7 Variation of Norma) Anatomy ? 20 + 2 1 1 742.48 Prominent Choroid Plexus Bilaterally ? 20 + 2 1 1 742.48 Prominent Cortical Structure Bridging Midline Anteriorly 37134 16 + 6 1 2 Imp: Risk of Chromosomal Etiology 20 - 30 % 16 + 6 1 2 744.88 Nucha! Edema 16 + 6 1 2 553.1 Small Omphalocele 16 + 6 1 2 756.17 Sacral Coccygeal Teratoma 16 + 6 1 2 Not Able to Visualize 4 Chamber Heart so may have CHD as well 37154 12 11+3 1 1 778.5 Generalized Subcutaneous Edema 12 11+3 1 1 778,0 Some Suggestion of Fluid in Chest Cavity 12 11+3 1 1 228.1 Confirmed Cystic Hygroma 37164 12 + 3 ' 1 Fetal Size Appropriate For Dates 12 + 3 1 1 228.1 Cystic swelling, consist, c CysOc Hygroma, in post (dorsal) aspect of fetal head that eidandeds to the level of the abd. (post.) $7166 11 12 + 5 1 Successful CVS 19 18+ 1 wk 1 1 741.98 Lumbosacral Spina Bifida Present Beginning at - L2 and continuing to Sacrum 19 18+ 1 wk 1 1 742.48 Cerebellum Deformed Herniated into Foramen Magnum 19 18+ 1 wk 1 1 756.08 Head Shape Also Abn - Lemon Sign 19 18+ 1 wk 1 1 754.50 At Least One Foot with Talipes Equtnovarus 37132 18 17+ 1 wk 1 1 742.08 4x8 mm posterior encephalocele, no neural tissue seen 18 17 + 1 wk 1 1 No Other Anomalies Seen 18 17+ 1 wk 1 1 Intracranial Structures Appear Normal 37304 14 1 1 778,0 Generalized Fetal Hydrops 14 1 1 511.9 Pleural Effusions 14 1 1 778.5 Generalized Skin Edema 14 1 1 778.5 Ascites 14 1 1 746,88 Pericardial Effusions 37326 17 + 5 1 1 No other anomalies seen 17 + 5 1 1 742.00 Large Encephalocele in Occipital Area in which most of the posterior brain structure are herniating 37327 16 17 + 1 wk 1 2 744.88 Skin over the posterior nuchal region is prominent 16 17 + 1 wk 1 2 No other anomalies are seen 37341 22 + 3 1 2 756.08 Depressed Nasal Bridge 22 + 3 1 2 764.9 Chest Circumference <5%centile for Gestational Age 22 + 3 1 2 755.88 Femur, Humerus, Tibia, + Fibia are all short 22 + 3 1 2 756.08 Frontal Bossing 22 + 3 1 2 756.44 Probable Thanatophoric Dwarfism with short chest and limbs 37370 28 4 2 Cordocentesis 28 4 2 753,16 Unilateral Large Cystic Dysplastic Kidney 28 4 2 Normal Fetal Growth 28 4 2 Amnioinfusion 28 4 2 761.2 Prosttn Injection with some difficulties due to severe oligohydramnios 37392 20 4 2 753,00 No Kidneys - Renal Agenesis Likely 20 4 2 761.2 Severe OPgohydramnios 37397 19 + 6 1 2 744.88 Abnormal Nuchal Thickening 19 + 6 1 2 No Other Anomalies Seen 19 + 6 1 2 524.0 Mild Micrognathia 19 + 6 1 2 755.88 Foot Movements Seen - Both Thighs appear to be In fixed flexion 19 + 6 1 2 754.22 Acute Angulation of Spine at Mid-Thoracic Level 19 + 6 1 2 Normal Fingers/Feet/Cord/Cord Insertion 19 + 6 1 2 753,20 Bilateral Mild Fetal Hydronephrosis 37399 21+4 2 2 764.9 Head Circumference < 5%centile 21+4 2 2 553.1 Small Omphalocele 21+4 2 2 Cystic Structure in L Thorax, ? Bowel, ? Stomach 21+4 2 2 746.80 Thorax shows Heart Displaced to R 21+4 2 2 Probable Chromosomal Anomaly 21+4 2 2 742.39 Cranial ventricles appear prominent (? Early Ventricutomegaly) with dependent position to choroid plexus 21+4 2 2 756.61 Diaphragmatic Hernia 21+4 2 2 756.08 Abn. Head Shape, Elongate, Bilateral Parietal Indentations Appendix II Ultrasound Findings 119 Code EGA EGA Amniotic Method Narrow Diagnosis: No: Dates U/S Fkjid ol TA Code: 31406 16 + 2 17 + 1wk 1 1 Genetic Amniocentesis - Good Tap for Clear Fluid 17613 18 + 3 16 + 1wk 1 1 778.5 Marked Generalized Fetal Skin Edema 18 + 3 16* 1 wk 1 1 228.1 Large Cystic Hygroma with Colli Present nen 16 + 1 1 2 742.5 Spine not well seen due to fetal position 16 + 1 1 2 No Fetal Abnormalities Seen 16+ 1 1 2 Normal Growth and Fluid 31616 15*5 1 1 No Anamolies are Suspected 15 + 5 1 1 Technically Difficult to Assess Fetal Anatomy 15 + 5 1 1 Many Fetal Details Cannot be Seen Adequately 37631 13 1 1 ?? Uterine Fibroid Cyst = 6 cm size 13 1 1 ?? Anterior Contraction of Uterus 13 1 1 228 1 Possible Cystic Hygorma, Though no Septae Seen) 13 t 1 778.5 Significant Edema 13 1 1 778 0 Imp: Early Fetal Hydrops 31640 11*1 1 1 U/S Confirms Menstral Dates 31663 16 1 1 Apparently Normal Gestation 31630 14*3 1 2 755.35 Short Femur for Gest. Age 14*3 1 2 744 88 Thick Nuchal Area 14 + 3 1 2 Imp: Suggesting A Possible Trisomy 14 + 3 1 2 553.1 Small Omphalocele 31601 17 1 1 755.28 Both Radii are Hypoplastic 17 1 1 553 1 Massive Omphalocele containing liver 17 1 1 742.23 Hypoplastic Cerebellar Hemispheres with Fluid collection in posterior fossa 17 1 1 524,0 Micrognathia 17 1 1 756 02 Hypertelorism 17 1 1 754.78 Soles are rounded 17 1 1 754 78 Heels are Prominent 17 1 1 755 88 Tibia and Ftbia Seem Short 17 1 1 755 51 Radical Deviation of One Hand 37706 15 1 1 742 48 Cystoma Magna Appears Somewhat Bulky 15 1 t No Definite Fetal Anomalies 31114 18 1 1 742.26 Alobar Holoprosencephaly with Monoventricular Cavity 18 1 1 742.26 No Midline Cerebral Structures 18 1 1 742 48 Possibly Fused Thalami 18 1 1 Difficult Scan due to Maternal Obesity 31716 32 5 3 761.3 Mild Polyhydramnios 32 5 3 746.88 Small Amount of Pericardial Effusion 32 5 3 751.10 Duodenal Atresia (Double Bubble Sign) 31717 10 t 1 Fetal Size Corresponds with Menstral Dates 37713 22 4 2 753.20 Bilateral Severe Hydronephrosis 22 4 2 761.2 Severe Oligohydramnios 22 4 2 753 29 Bilateral Hydroureters 22 4 2 753.88 Severely Distended Bladder 31150 15 13 1 2 Severe Cranial Anomaly 15 13 1 2 Likely Anencephaly with Large Posterior Encephalocele or Ininencephaly 31132 15 1 1 228 1 Cytic Hygroma 15 t 1 778,5 Severe Degree of Fetal Edema, extending down entire length of the fetal body 15 1 1 Amniocentesis attempted 2X, unsuccessful 15 1 1 Placental Biopsy under U/S guidance successful 15 1 1 Fetal Size Appropriate For Dates 37760 17 + 3 15 1 1 759.89 Impression: Neu Loxova Syndrome 17 + 3 15 1 1 754.73 Suspicion of R Clubbed Foot 17 + 3 15 1 1 745.49 VSD very likely 17 + 3 15 1 1 755.51 Abn Position of Fingers 17 + 3 15 1 1 755.19 Syndactyly Strongly Suspected 17 + 3 15 1 1 778.5 Small Degree of Skin Edema 17 + 3 15 1 1 764.9 Symmetrical IUGR 17 + 3 15 1 1 742.23 Abnormal Cerebellum 17 + 3 15 1 1 742.21 Corpus Callosum Not Identified 31171 20 21 + 2 wks 1 2 778.5 Nuchal Edema, edema extends over chest wall 20 21 • 2 wks 1 2 Imp: Chromosomes ?, Viral ?, Storage ?, Dwarfism Variant ? Appendix II Ultrasound Findings 120 EGA EGA Amniotic Method Narrow Diagnosis: Dates U/S Fluid of TA Code: 20 21 + 2 wks 1 2 755.88 Limbs Globally Short 20 21 + 2 wks 1 2 Myocardium more echogenic than normal 20 21 + 2 wks 1 2 762 28 Placenta with Dystrophic Calcifications 20 21 + 2 wks 1 2 754.50 Bilateral Talipes Equinovarius 16 1 2 778.0 Severe Fetal Hydrops 17 1 2 L Outflow Looks Normal 17 1 2 Prognosis guarded with longterm palliation possible 17 1 2 Small Degree of Pulmonary Artery Flow 17 1 2 746.1 Poor Tricuspid Motion 17 1 2 Abnormal 4 Chamber View of Heart 17 1 2 746 88 Hypoplastic R Ventricle 18 2 2 756.71 A typical Gastroschisis is present with herinal orifice to the R and inferior to umbilical insertion 18 2 2 762.1 Mild Oligohydramnios 22 0 2 753 13 Lethal Type Polycystic Kidney Disease 22 0 2 753.34 Fetal Kidneys Larger than Term Size LMP ? 18 , , 756.79 Abdominal Soft Tissues Are Abnormally Protuberant LMP? 18 1 1 754.22 Spine exhibits severe angular deformaty in the craniocervical junct'n & in the Lower Thoracic region LMP ? 18 1 1 742 32 Amorphus Tubular Partially Fluid Structures which likely represent features of Hydranencephaly LMP ? 18 1 ' No Cranial Vault can be Delineated 19 + 4 1 2 741.01 Apparent Mild Amold-Chiari Malformation 19 + 4 1 2 742.39 Lateral Cerebral Ventricles are 20 mm wide 19 + 4 1 2 741.01 Probably Small Distal Lumbar-Sacral Spina Bifida 19 + 4 1 2 742.39 Severe, Roughly Symmetrical Hydrocephalus 19 + 4 1 2 742.39 3rd Cerebral Ventricles are 5-6 mm dilated 32 29 + 6 5 2 742.09 Extracranial Brain Tissue, Like Encephalocele 32 29 + 5 5 2 756 14 Cervical Spine Seems Abn, in Structure and Curvature 32 29 + 5 5 2 755.88 Only Two Limbs Were Seen 32 29 + 5 5 2 743.57 Very Small Orbit 32 29 + 5 5 2 743.8 Asymmetrically Placed Eye 32 29 + 5 5 2 742 48 Intracranial Brain Tissue is Disorganized and Deficient 32 29 + 5 5 2 755.51 Odd Position of Fingers in one hand 32 29 + 5 5 2 756 08 Nonossified Skull 32 29 + 5 5 2 762.8 Stands of Membrane are Attached to the Small Apparently Nonossified Skull 32 29 + 5 5 2 761.3 Mild Polyhydramnios 32 29 + 5 5 2 762.8 Probability of Amniotic Band Syndrome involving fetal head, including face 32 29 + 5 5 2 743.67 The Orbits Seem Asymmetrical in Size 20 1 2 No Other Anomalies Seen 20 1 2 740.02 Anencephalus 16 1 1 Normal Growth/Fluid/Fetal Anatomy 17 + 2 6 1 778.5 Scalp Edema 17 + 2 6 1 228.1 Small Cystic Hygroma noted 17 + 2 6 1 761.3 Moderate Polyhydramnios 18 , , Detail Difficult to Visualize due to Maternal Obesity 18 1 1 744.88 Nuchal Edema is Present 18 1 1 Fetal Size Appropriate for Dates 22 20+ 1 wk 1 2 764.9 Fetal Size at 10%centile for dates 22 20+ 1 wk 1 2 759.89 Imp: likely Genetic Syndrome (eg. Fanconi Anemia, T.A.R., or Isolated Phocomelia) 22 20+ 1 wk 1 2 762.28 Placenta Appears Bulky (may be due to contraction) 22 20+ 1 wk 1 2 755.50 L Thumb Not Well Seen 22 20+ 1 wk 1 2 753.20 Mild Dilatation of L Renal Pelvis 22 20+ 1 wk 1 2 755.26 Absent Radius, Short Ulna 22 20 + 1wk 1 2 755.51 L Arm Abn - marked radial deviation of hand 23 4 2 761.2 Severe Oligohydramnios 23 4 2 753.16 L Abdomen either Large Cystic Duplex Kidney or 2 Kidneys both Cystic (largest cyst 14 mm) 23 4 2 No Kidneys Seen R Side 23 4 2 753 8 No Bladder Seen 23 4 2 No Other Anomalies Seen 20 + 2 , ^ 754.73 R Club Foot 20 + 2 1 1 553.1 Abnormal Fetus with an Intact Omphalocele 20 + 2 1 1 Possible Chromosome Abnormality 10 + 3 1 1 Successful CVS No Fetal Abnormalities Seen Appendix II Ultrasound Findings 121 Coda EGA EGA A/nrnotic: Melhod Narrow Diagnosis: No: Dates U/S FK*d o! TA Coda: 11+3 1 1 Successful CVS 16 1 2 No Fetal Abnormalities Seen 38117 25 22 1 2 741.01 Amold-Chiari Type of Malformation 25 22 1 2 742.39 Ventriculomegaly 25 22 1 2 741.01 Strongly Suspected Sacral Defect 38130 10 + 5 1 1 Fetal Size Corresponds with Dates 38136 19 + 5 1 2 756.61 Massive L Diaphragmatic Hemia 19 + 5 1 2 746.80 R Sided Displacement of the Heart 38148 21 1 2 Normal Fetal Growth For Dates 21 1 - 2 No Other Anomalies Seen 21 1 2 740.02 Anencephalic Fetus 38181 10 + 3 11 + 3d 1 2 Transabdominal CVS - Single tap for adequate tissue 38186 15 12 + 5 1 2 748.51 Both Lungs Seem Small (R Lung 1/3 expected size, L lung 1/2 expected size 15 12 + 5 1 2 Single, Fetus, 12- 13 wks size 15 12 + 5 1 2 778.5 Generalized Subcutaneous Edema - Very Prominent 15 12 + 5 1 2 748.51 Suggesting Lethal Pulmonary Hypoplasia 15 12 + 5 1 2 Normal Growth and Fluid 15 12 + 5 1 2 Too Early for Detection of Organ Details 38261 16 1 1 No Anomalies Seen 38270 11+3 1 1 Fetal Size Corresponds to Dates 38313 15 + 6 1 1 No Evidence of Fetal Anomalies 38321 16 1 2 742,26 Both Twins Holoprosencephaly 16 1 2 756.08 Both Twins Probable Proboscis 16 1 2 743.67 Twin A Single Orbit 16 I 2 753.20 Both Twins Hydronephrosis 16 1 2 553.1 Twin A Omphalocele 16 1 2 755.00 Twin A Possible Polydactyly 16 1 2 744.88 Both Twins Nuchal Thickening 38322 19 21 1 2 755.65 Femurs <5%centile 19 21 1 2 754 40 Femurs Curved 19 21 1 2 756.34 Ribs Appear Short and Thorax appears Small 19 21 1 2 755.54 R and L Humerus are Curved 19 21 1 2 756.44 Imp: Short Limbed Dwarphism ?? Asphba'ating in type 19 21 1 2 755,88 All Long Bones are Shorter Than Expected <5%centile 19 21 1 2 755.63 Tib/Fib <5%centile 19 21 1 2 755.88 Trunk Circumference and Head Measurments = 21 wks 38324 14 + 2 1 1 744,88 Diffuse Nuchal Edema 14 + 2 1 1 778.5 Subcutaneous Edema Over Scalp and Thorax 14 + 2 1 1 Probable Chromosome Abn (T21, T18, 45 X) 38329 16 + 6 1 2 778.0 Fetal Hydrops 16 + 6 1 2 228.1 Large Cystic Hygroma 16 + 6 1 2 778.5 Subcutaneous Edema 16 + 6 1 2 511.9 ' Pleural Effusions 16 + 6 1 2 753.20 L Fetal Hydronephrosis 16 + 6 1 2 753.32 Possibly a Horseshoe Kidney 16 + 6 1 2 R Kidney Not Seen 16 + 6 1 2 Many Details Could Not Be Visualized Properly 16 + 6 1 2 778,0 Ascites 38330 19 + 1 17 + 1 wk 1 2 The Cranial Vault Is Absent But Brain Tissue Appears To Be Present 19 + 1 17+ 1 wk 1 2 Imp: Probable Acrania or Could Be A Variant of Anencephaly 19+1 17 + 1 wk 1 2 No Other Anomalies Seen 38345 27 24 1 2 No Other Anomalies Detected 27 24 1 2 740.02 Both Fetuses Anencephalic 38348 19 + 2 1 2 755.88 Most Likely Representing a Form of Arthrogryposis 19 + 2 1 2 778.5 Severe, Generalized Subcutaneous Edema 19 + 2 ' 1 2 755.88 Abnormal Position of Arms and Legs 19 + 2 1 2 Heart Anatomy Not Well Seen Due to Fetal Position 19 + 2 1 2 511.9 Bilateral Pleural Effusion 19 + 2 1 2 No Fetal Movement Seen During Exam 19 + 2 1 2 750.7 Stomach Not Seen 38349 19 1 2 741.94 Definite Sacro-Coccygeal Meningomyelocele Appendix II Ultrasound Findings 122 Coda EGA EGA Amniotic Method Narrow Diagnosis: No: Dates U/S FlucJ oITA Code: 19 1 2 Difficult Scan due to Maternal Abdominal Wall 19 1 2 742 48 Banana Sign in Cerebellum 19 1 2 742 23 Cerebellum Smaller than Expected for Gest. Age 33356 13*4 1 1 75548 Probable Micromelia 13 + 4 1 1 756.08 Skull is Poorly Mineralized 13*4 1 1 742.39 Hydrocephalus - Dilation of 3rd and Lateral Ventricles 13 + 4 1 1 756.08 Skull has Abnormal Cloverleaf Shape 13 • 4 1 1 755 88 4 Limbs are Markedly Short 13 + 4 1 1 756 44 Obviously Affected by a Short-Limbed Dwarf Syndrome 13 + 4 1 1 75644 Likely Type II Thanatophoric Dwarfism 13 + 4 1 1 756.08 Prominent Forehead 33364 16 + 4 1 1 745.63 There Appears to be Only 1 AV Valve (AV Canal Defect) 16 + 4 i 1 Great Vessels Appear Abnormal 16 + 4 i 1 74 5 00 ? possible Truncus 16 + 4 1 1 745 49 Ventricular Septum is Incomplete 33374 16 + 1 16+ 1 wk 1 1 Fetal Detail is Somewhat Limited by Maternal Abdominal Wall Thickness 16 + 1 16* 1 wk 1 1 Genetic Amniocentesis - Single Tap, Clear Fluid 333S0 18 1 1 748.51 ? Pulmonary Hypoplasia 18 1 1 778 0 Ascites 18 1 1 751,62 Enlarged Liver 18 1 1 744.88 ? Nuchal Edema 18 1 1 762 28 Enlarged Placenta with Polyhydramnios 18 1 1 754 82 Fetal Chest is Small (the heart almost fills the chest) 31391 13 + 2 14 + 1 wk 2 1 Multiple Fibroids 13 + 2 14 + 1 wk 2 1 762.28 Large Placental Lake Noted 13 + 2 14* 1 wk 2 1 761.2 Mild Oligohydramnios 13 + 2 14 • 1 wk 2 1 779.9 Need Repeat For Fetal Demise @ > 16 wks in View of Maternal Abdominal Wall 33106 18 + 2 1 1 No Anomalies Seen Today 18 + 2 1 1 Apparently Normal Gestation 33333 18+1 1 2 746,88 The R Ventricle of the Heart is Thickened and More Echogenic Than Usual 18+1 1 2 778.5 Subcutaneous Edema of the Lower Scalp, Neck, + Posterior Chest Area 18 + 1 1 2 742 48 None of The Normal Intracranial Structures Could Be Seen 18+1 1 2 Fetal Biometry Is Appropriate For Gest. Age 18+1 1 2 741 93 Memingocele in the Lumbar Spine, invorving a single vertebrae at level L1/L2 33134 26 25 * 2 wks 1 2 742 23 Small Cerebellum Identified 26 25 * 2 wks 1 2 742 48 Fluid Halo Surrounding Brain 26 25 • 2 wks 1 2 754.78 Abn. Position Feet 26 25 + 2 wks 1 2 755.38 No Long Bones in Lower Extremities 26 25 * 2 wks 1 2 755.28 No Long Bones in Upper Extremities 26 25 + 2 wks 1 2 778.0 Severe Ascites 26 25 * 2 wks 1 2 5119 Pleural Effusion Present 26 25 + 2 wks 1 2 742 39 Possible Enlarged Ventricles 26 25 * 2 wks 1 2 742 48 Abnormal Central Cerebral Structure 26 25 + 2 wks 1 2 742. Unable to Identify Normal Cerebral Hemispheres 33530 17 16*1wk 1 2 Active Fetus about 16 wks by Growth 17 16* 1 wk 1 2 755.28 RadAJIna Not Seen 17 16* 1 wk • 1 2 755 9 Abnormal Fetal Limbs (Active) 17 16* 1 wk 1 2 756 08 ? Absence of Nasal Bones 17 16 * 1 wk 1 2 755.58 Humerus 20 mm, appears to be joined directly to L Hand 17 16 + 1wk 1 2 755.08 ? Polydactyly 17 16+ 1 wk 1 2 Femurs, 20 mm, Tib/Fib, 15 mm 17 16 • 1 wk 1 2 754 73 Both Feet Turn Inwards 17 16 + 1wk 1 2 744 88 Mild Degree of Nuchal Skin Edema 17 16 + 1wk 1 2 No Other Abn. Seen, Intracranial, Spine, Chest, Heart, Stomach, Kid., Bladder & Abd.Wall, U.+L. Jaw OK 17 16 + 1wk 1 2 744 9 Face Not Well Seen 33331 21+5 1 1 742.39 Slight Dilatation of Lateral Ventricles 21+5 1 1 741.01 Associated Amold-Chiari Malformation 21+5 1 1 741.01 Meningocele, Invorving the spine for T4 to Sacrum 3333* 13 + 2 15-16 1 1 764 9 Fetus 3 wks Below in Size 18 + 2 15-16 1 1 74193 High Meningocele Lesion on Lumbar Spine L1/2 - L4 33303 17 + 2 15* 1.5 wk 1 1 746.88 Evidence of Pericardial Effusions 17 + 2 15* 1.5 wk 1 1 511.9 Evidence of Pleural Effusions 17 + 2 15* 1.5 wk 1 1 228.1 Massive Bilat. Cystic Hygroma extending from head to abd. & over onto the ventral side of fetus 33733 17 + 5 15* 1 wk 4 1 Difficult to see 4 Chamber Heart View 17 + 5 15+ 1 wk 4 1 753,13 Possible Polycystic Kidneys 17 + 5 15 • 1 wk 4 1 761,2 Severe Oligohydramnios Appendix II Ultrasound Findings EGA EGA Amniotic Method Narrow Diagnosis: Dates U/S Fluid ofTA Coda: 17 + 5 15+ 1 wk 4 1 Hyperechogenic Kidneys Seen Bilaterally 17 + 5 15+ 1 wk 4 1 750.7 No Stomach Seen 17 + 5 15+ 1 wk 4 1 Hyperechogenic Mass Anterior to Lower Pole of Kidney 17 + 5 15 + 1wk 4 1 756.71 Possible Gastroschisis 17 + 5 15 + 1 wk 4 1 748.51 Possible Hypoplastic Lungs 17 + 5 15 + 1wk 4 1 789.9 Possible Intraabdominal Calcifications 17 + 5 15 + 1 wk 4 1 Heart Occupies 1/2 of the Throax 17 + 5 15+ 1 wk 4 1 754.03 Head is Dolicocephalic 29 + 4 29 + 2 , 2 756.18 Spine Very Distorted and Tortuous 29 + 4 29 + 2 2 740.02 Anencephalic Fetus 14* 1 13 , , 778.5 Thoracic Skin Edema 14 + 1 13 1 1 778.5 Abdominal Skin Edema 14* 1 13 1 1 744.88 Nuchal Edema 14 + 1 13 1 778 0 Severe Fetal Hydrops 18 + 6 16 1 2 228.1 Small Bilateral Hygromas are In Evidence 18 + 6 16 1 2 746.88 Large R Atrium 18*6 16 1 2 746.88 Large R Ventricle 18 + 6 16 1 2 745.63 AV Canal Defect 18 + 6 16 1 2 745.58 Large ASD 18 + 6 16 1 2 753.20 Minimal Bilateral Hydronephrosis 18 + 6 16 1 2 747.32 Pulmonary Artery Not as Large as I Would Expect 18 + 6 16 1 2 746.88 Small Pericardial Effusion 18 + 6 16 1 2 745.48 Small If Any VSD Component 18 + 6 16 1 2 Imp: Down's Syndrome, etc... 6 + 6 Maternal Abdominal Wall and Fetal Position are Limiting in This Exam 6 + 6 No Abnormalities Seen Today 6 + 6 756 7 Small Abdominal Wall Defect Cannot Be Excluded (Ache suggestive of Abd. Wall Defect) Four Chamber View Identified Sluggish Movements Identified 20 Cannot Establish 3 vessels in the Umbilical Cord 20 Extremities Appear Normal 20 Facial Features not Assessable 20 553.1 Omphalocele containing probably all of the small bowel 20 756.7 Wide Anterior Abdominal Wall Defect 20 754.20 Spine Shows Marked Scoliosis in Lower 2/3rds 20 742.48 Intracranial Structure Distorted 742.08 Encephalocele from vertex No Gross Fetal Anomalies Seen • 1 wk 756.08 Lemon Sign Present f 1 wk 741.01 Meningomyelocele arising in the L3 - L4 vertebrae level 20 • 1 wk Cardiac, All Structures and Veins Seen and Appear Normal 20 • 1 wk Banana Sign Present 20 K 1 wk Lower Limb Pos'n and Movement Appear Normal 20 • 1 wk Mod. Ventriculomegaly suggesting associated Arnold Chiari Matfn 17 + 5 756.72 Imp: Urinary Tract Obstruction + Massive Ascites (likely urinoma), Prune Belly Syndrome 17 + 5 778.8 Massive Fetal Ascites 17 + 5 753.88 Very Large Bladder 17 + 5 753.20 Bilateral Mild Hydronephrosis 17 + 5 754.82 Chest Circumference < 10%centile 17 + 5 751.62 Peripheral Calcifications at Edge of Liver 17 + 5 761.2 Severe Oligohydramnios 17 + 5 754.73 Positional R Club Foot No Bladder Seen Bilateral Renal Hypogenesis/Agenesis Imp: Lethal Renal Malformations 742.39 Enlarged Cystema Magna 742.39 Cranioventriculomegaly 762.8 Amnion Closely Applied to Fetal Parts 19 + 4 753 71 Possible Urachal Cyst 19 + 4 746.88 L Ventricle appears smaller than R side 19 + 4 742.48 Large Choroid Plexus Cyst R Side 19 + 4 745.58 ASD 19 + 4 756.61 Diaphragmatic Hernia, L Side 19 + 4 753.48 Possible Dilated Ureter 19 + 4 789.9 Intraabdominal Cystic Structure 19 + 4 74549 Possible VSD 19 + 4 755.61 Rocker Bottom Feet 19 + 4 Difficult to see Fetal Kidneys Appendix II Ultrasound Findings „ 124 Code EGA EGA Amniotic Method Narrow Diagnosis: No: Dates U/S Fluid of TA Code: 18 + 3 1 1 742.48 Drooping Choroid Plexus 18 + 3 1 1 746.88 R Ventricle Appears Larger than L Ventricle 18 + 3 1 1 745 49 Possible VSD 18 + 3 1 1 Imp: Chromosomal Abnormalities, Possible Trisomy 18 + 3 1 1 742.39 Mild Ventriculomegaly 18 + 3 1 1 751.64 Markedly Dilated Gallbladder, appears thick walled 18 + 3 1 1 Unable to Detect Presence of Intact Cardiac Septum 38QS1 11+3 1 1 744,88 Extensive Area of Nuchal Edema, Extenting from back of neck to midway down spine 11+3 1 1 Size Appropriate of Gestational Age By Dates 3S914 26 + 4 4 2 750.7 Unable To visualize Stomach 26 + 4 4 2 761.2 Severe Oligohydramnios 26 + 4 4 2 Unable To visualize Kidneys 26 + 4 4 2 753. B Unable To Visualize Bladder 26 + 4 4 2 753.00 Suggestive of Renal Agenesis 26 + 4 4 2 Unable to See Good Anatomic Detail Due to Oligohydramnios 31961 12 1 1 Successful Transcervical CVS, Trans. Abd., 2 attempts, F/H +ve 36967 27 4 2 746.88 Pericardial Effusions 27 4 2 764.9 Severe Symmetrical IUGR , 5%centile 27 4 2 779.9 Fetal Heart Absent at Todays Exam 27 4 2 746.1 Mild Tricuspid + Mitral Regurgitation (Doppler) 27 4 2 761.2 Severe Oligohydramnios 27 4 2 Imp: Possibly Chromosome Anomalies or Intrauterine Infection 38969 Unknown 26-27 4 2 Heart Displaced Cranially and to the Left Unknown 26-27 4 2 789,9 Large Intraabdominal Cystic Structure (multicystic) which occupies much of the abdomen Unknown 26-27 4 2 761.2 Severe Oligohydramnios Unknown 26-27 4 2 Unable to Discern Cardiac Anatomy Due to Compression and Distortion Unknown 26-27 4 2 756,6 Diaphragm is difficult to see Unknown 26-27 4 2 753,1 Abd. Mass Appears to be a large Mutti/Polycystic Kidney (Mass is Retroperitoneal Unknown 26-27 4 2 A Second Kidney Could Not Be Seen Unknown 26-27 4 2 753,8 Bladder Not Seen Unknown 26-27 4 2 750.7 Stomach Not Seen Unknown 26-27 4 2 Cyst is exerting a mass effect compressing heart and Lungs 38972 17 + 5 1 2 762.68 Umbilical Insertion Abnormalities 17 + 5 1 2 754.22 Flattened Decreased Angle to Spine 17 + 5 1 2 756.79 Lower Abdominal Wall Appears Abnormal 17 + 5 1 2 753.71 Possible Urachal Cyst 17 + 5 1 2 753.88 Possible Bladder Extrophy 17 + 5 1 2 752.88 Genetalia Not Well Defined, (ambiguous) 17 + 5 1 2 755.67 Pelvic Iliac Structures Appear Abnormal 38973 19 + 2 3 2 Imp: Chromosome Anomalies, ?T21, orT18/13 19 + 2 3 2 750.7 Stomach not seen today 19 + 2 3 2 753.8 Bladder not seen today 19 + 2 3 2 778.0 Fetal Ascities 19 + 2 3 2 761.2 Moderate Oligohydramnios 19 + 2 3 2 778.0 Hydrops 19 + 2 3 2 511,9 Bilateral Pleural Effusions 19 + 2 3 2 753.20 Large Dilated Renal Pelvis R Kidney 19 + 2 3 2 228.1 Large Cystic Hygroma extending posteriorly to level of C6/C7 19 + 2 3 2 746.88 Hypoplastic L Ventricle 19 + 2 3 2 Unable to see short axis view of heart 19 + 2 3 2 L Kidney not seen today 38978 18 34 2 Very Little Movement Was Noticed 18 34 2 764,S Abdomen and Thorax are < 5%centile of Normal U/S dates 18 34 2 761.2 Moderate to Severe Oligohydramnios 38979 12+1 11+4 +/-3 1 1 Singleton Gestation 12+1 11+4 +/-3 t 1 Size = Dates 12+1 11+4 +/-3 1 1 Successful Transcervical CVS, FH +ve before & after 38983 19 18 34 1 Unable to Visualize 4 Chamber View of Heart 19 18 34 1 745,58 Possible ASD 19 18 34 1 761.2 Moderate to Severe Oligohydramnios 19 18 34 1 778.0 Fetal Ascites 19 18 34 1 778.0 Hydrops 19 18 34 1 511.9 Bilateral Pleural Effusions 19 18 34 1 742.39 Mild Dilation of 3rd Ventricle 19 18 34 1 742,39 Mild Ventriculomegaly 19 18 34 1 Probable Chromosome Anomaly, ? Turners 19 18 34 1 764,9 Fetal size < 10%centile for Gest. Age 19 18 34 1 228.1 Cystic Hygroma - large septated cystic structure extending form head down back 19 18 34 1 753,8 Bladder Not Seen Appendix II Ultrasound Findings 125 EGA EGA Amniotic Method Narrow Diagnosis: Dates U/S FMd of TA Code; 18 16 • 1 , 2 754.00 Somewhat Asymmetrical Facial Structures 18 16 + 1 t 2 756.18 Cervical and Upper Thoracic Spine Appear Widened 18 16 + 1 1 2 742,26 Confirmed Holoprosencephaly (single ventricle, interhemispheric fissure seen) 18 16 + 1 1 2 742.48 Thalamus Possibly Fused 18 16+ 1 1 2 742.48 Choroid Plexus Indistinguishable 18 16+ 1 1 2 756.1 Generally Spine Not Wed Seen Due To Fetal Position 18 16 + 1 2 742 48 Septum Peltucidum Not Identifiable 15 + 4 2 No Fetal Anomalies Seen 15 + 4 1 2 Fetal Size Corresponds with Menstral Dates 19 + 1 15 + 1 wk 4 , 761.2 Severe Oligohydramnios 19+1 15 + 1 wk 4 1 Probable Lethal MCA, Chromosomal 19+1 15 + 1 wk 4 1 742.39 Severe Ventriculomegaly 19 + 1 15 + 1 wk 4 1 742.48 Cerebellum Displaced Posteriorly 19 • 1 15 + 1 wk 4 1 Probable Congenital Heart Disease 19 + 1 15* 1 wk 4 1 No Clearly Defined Renal Structures Seen 19 + 1 15+ 1 wk 4 1 753.8 No Bladder Seen 17 + 1 , 3 Twin A - No Identifiable Thorax Structures 17 + 1 1 3 762.30 Imp: TRAP - Twin Reversed Arterial Perfusion Sequence 17 + 1 1 3 Twin B Appears Normal 17 + 1 1 3 778.0 Twin A - Grossly Hydropic 17+ 1 1 3 Twin A - No Identifiable Internal Head Structures 17 + 1 1 3 Twin A - No Identifiable Adominal Structures 17+1 3 Twin A - No Heart is Seen Although A Pulsation is Visible in Throax 10 + 4 < Ultrasound Confirms Menstral Dates 28-29 4 2 753.16 Possibly Cystic Horseshoe Kidney 28-29 4 2 761.2 Severe Oligohydramnios 28-29 4 2 754.03 Dolicocephaly, Probably due to Oligohydramnios 28-29 4 2 Normal Fetal Kidney Not Seen 28-29 4 2 753.16 Multicystic Mass in the Lower Abdomen 28-29 4 2 753.8 Bladder Not Identified 10*4 1 1 R Sided MuKicystic/Solid Mass, 8 x 6 cm - bilateral ovarian masses 10 + 4 1 1 R Sided Multicystic Mass, 2x4 cm, ? ovary 10*4 1 1 Uncomplicated Trans Abd. CVS 13 + 1 3 1 228.1 Swelling Around Neck Consistent with Cystic Hygroma 13+ 1 3 1 Imp: Chromosomal Anomaly Most Likely Diagnosis 13 • 1 3 i 778.0 Fetal Hydrops 21+2 17 , 2 511.9 Pleural Effusions 21+2 17 i 2 754.73 Bilateral Clubbed Fett 21+2 17 i 2 740.01 Imp: Consistent with Syndrome of Acrania 21+2 17 t 2 742.48 Flattened Cerebral Hemispheres 21+2 17 i 2 740.01 Acrania 21+2 17 i 2 778.5 Ascites 21+2 17 i 2 778.0 Generalized Hydrops 21+2 17 i 2 764.9 IUGR, Size - 4 weeks behind age (femur/trunk = 17 wks) 21+2 17 ' 2 740.01 Absent Catvarium 21+6 4 2 753.8 No Bladder Identified 21+6 4 2 746.88 Possible Enlarged RA 21+6 4 2 746.88 Moderate Pericardial Effusion 21+6 4 2 750.7 No Stomach Identified 21+6 4 2 No Kidneys Identified 21+6 4 2 746.86 Fetal Heart myocardium appears hypertrophic 21+6 4 2 761.2 No Amniotic Fluid Around Fetus 21+6 4 2 756.1 Spine - poor visualization 19 2 , 778.0 Ascites 19 2 1 761,2 Mild Oligohydramnios 19 2 1 511.9 Pleural Effusion 19 2 1 778.5 Generalized Edema 19 2 1 Difficulty in Recognizing Abdominal Organs Due to Ascites 19 2 ' 228,1 Cystic Hygroma 20 + 3 16-17 34 1 756.08 Abn Skull Shape, (asymmetric though no intracranial anomaly) 20 + 3 16-17 34 1 Detail Extremely Difficult to See 20 + 3 16-17 34 1 745.58 ASD, Possibly also identified 20 + 3 16-17 34 1 753.20 Possible Hydroureter or Hydronephrosis 20 + 3 16-17 34 t 754.22 Severe Angulation of Upper Thoracic Spine with Absent Apparent Hemivertebrae 20 + 3 16- 17 34 1 764, S 16-17 wks by BPD- IUGR 20 + 3 16- 17 34 1 761.2 Moderate-Severe Oligohydramnios 20 + 3 16- 17 34 1 753.88 Massive Fluid Filled Distended Cystic Structure Intra abdominally, Appears to be Bladder Appendix II Ultrasound Findings 126 Code EGA EGA Amniotic Method Narrow Diagnosis: No: Dates U/S FKid otTA Code: 39376 16 + 3 1 2 228.1 Large Cystic Hygroma 18 + 3 1 2 754.82 Bell Shaped Thorax, Circumference < 25%centi1e 18 + 3 1 2 756.44 Achondrogenesis Type II 18 + 3 1 2 756.18 Non-ossified Spine, Lumbar and Thorax 18 + 3 1 2 756.18 Possible Splaying of Pedicles 18 + 3 1 2 741.99 Suggestive Dysraphism 18 + 3 1 2 755 48 Severe Micromelia of all Limbs 1930S 18 + 4 1 2 No other anomalies seen today 18*4 1 2 756.1 Spine Appears Normal 18*4 1 2 740.02 Anencephaly - Absence of Catvarium and Brain Componenets 39337 19 * 2 18+ 1 wk 1 1 742.39 Mild Ventriculomegaly 19 + 2 18* 1 wk 1 1 742.48 Unilateral Dangling Choroid Plexus 19 + 2 18 +1 wk 1 1 751.5 Echogenic Bowel, contains fluid but not overly distended 39333 14*3 11+2 1 1 742.26 Possible Hotoprosencephaly 14 + 3 11+2 1 1 756.08 Skull Poorly Calcified 14*3 11 +2 1 1 764.9 Severe IUGR 14 + 3 11+2 1 1 755.88 Long Bones All Shortened 14 + 3 11+2 1 1 756.08 Large Fluid Collections Superior Head Region 14 + 3 11+2 1 1 756.79 Large Abdominal Wall Defect 14 + 3 11+2 1 1 756.08 Brain Sutures Not Well Defined 14 + 3 11+2 1 1 755.88 Long Bones Poorly Calcified 39341 17 1 2 746.7 Impression: Hypoplastic L Heart Syndrome 17 1 2 746,88 Compensatory R Sided Enlargement 17 1 2 747.28 Ascending Aortal Enlargement 17 1 2 746.88 Hypoplastic L Ventricle 39343 12 + 3 1 1 740.01 Fetus with Acrania 12 + 3 1 t No Other Anomalies Detected at this Point 39343 24 2 1 754.78 Abn R Foot Position 24 2 1 755.63 Absent R Fibula 24 2 1 No Other Anomalies Are Seen 39367 18*2 1 1 No Other Anomalies Are Seen 18 + 2 1 t 740.02 Anencephaly 39373 25+ 1d 18- 21 wk 4 1 500 cc Amnio Infusion 25+ 1d 18-21 wk 4 1 764,9 HC & BPD = 20 wk, AC = 18 wks, FL = 21 wks (Measurements Confirmed) 25* 1d 18-21 wk 4 1 Other Anatomy Appears Normal 25 + 1d 18-21 wk 4 1 754,82 Small Thorax 25 • 1d 18-21 wk 4 1 753.00 No Kidneys Seen 39376 15 + 3 1 2 Apparently Normal Gestation 39330 16 + 1 2 1 228.1 Cystic Hygroma 16 + 1 2 1 778.0 Hydrops 16 + 1 2 1 756.49 Skeletal Dysplasia - all long bones «5%centile 16 + 1 2 1 754.82 Narrow Thorax 16+ 1 2 1 742.48 Cerebellum Not Seen 16 + 1 2 1 753.8 Bladder Not Seen 16 + 1 2 1 756.18 Kyphoscoliosis, Spine Severely Twisted, Thoracic 16+ 1 2 1 778.5 Ascites 39303 11+3 1 4 228.1 Nuchal Edema, Has Appearance of Cystic Hygroma 11+3 1 4 779.9 IUD, No Fetal Heart Beat 39309 19 + 5 19 1 2 745.49 2 Ventricles Are Well Formed & It Is Not Clear If There Is A VSD Component 19 + 5 19 1 2 753.20 Prominent Renal Valves (4.5 mm & 4 mm) 19 + 5 19 1 2 745.63 Imp: Consistent with an AV Septal Defect, not likely to be duct dependent 19 + 5 19 1 2 745.63 4 chamber view again appears normal cith loss of the crux which indicates an A-V septal defect 19 + 5 19 1 2 Normal Situs and Gt Vessels Noted 39513 16 + 1 15 + 1 1 1 228.1 Cystic Hygroma 16* 1 15 + 1 1 1 778,0 Ascites 16 + 1 15 + 1 1 1 Suspect Chr. Anomaly (Turners, T13, T18) 16*1 15+1 1 1 778.0 Generalized Hydrops - Skin Edema 16 + 1 15+1 1 1 755,88 Bone Lengths are smaller than expected (14 wks) 16 + 1 15+1 1 1 751.5 Echogenic Small Bowel 39513 18 1 2 740.02 Anencephalic Fetus with Small Amount of Brain Tissue 18 1 2 Fetal Size Appropriate By Abdominal, Trunk and Femur Length 39530 7 14 + 1 wk 2 1 753.68 Imp: Could be N Urinary Bladder with obstructed Outflow or Neoplastic eg. ovarian cyst if female 7 14 • 1 wk 2 1 Large cystic struct, occupying & distending the fetal abd., displacing liver up& compressing other organs Appendix II Ultrasound Findings 127 Code EGA EGA Amniobe Method Narrow Diagnosis: No: Dates U/S Fluid of TA Code: ? 14 + 1 wk 2 1 Kidneys are Very Difficult to Assess ? 14 + 1 wk 2 1 No Definite Intracranial of Spinal Anomalies Seen ? 14 + 1 wk 2 1 761.2 Amniotic Fluid Appears Slightly Low For This Age 39512 14 1 1 744.91 Face Appears Without Features 14 1 1 744.88 Nuchal Edema 14 1 1 553.1 Omphalocele 14 1 1 Abn 4 Chamber View of Heart, (too small to classify) 14 1 1 743.67 No Orbits 14 1 1 742.26 Holoprosencephaly with Posterior Partial Fabc 14 1 1 764.9 Small Fetus, 10%centile 39561 17 + 2 1 2 742 48 Banana Shaped Cerebellum 17 + 2 1 2 756.08 Lemon Shaped Skull 17 + 2 1 2 741.94 Sacral Meningomyelocele 17 + 2 1 2 No Other Fetal Anomalies Seen Today 39564 16 1 2 U/S at Penticton 16 1 2 No Anomalies Seen Today 39579 12 + 1 1 1 228.1 Nuchal Edema, appearance consistent with Cystic Hygroma 39701 15 + 6 14 + 1 wk 1 4 789 9 Large Intraabdominal Cyst at Cord Insertion 15 + 6 14 + 1 wk 1 4 751.58 Possible Mesenteric Cyst 15 + 6 14+ 1 wk 1 4 756.49 Impression: Skeletal Dysplasia 15 + 6 14 + 1 wk 1 4 753.71 Possible Urachal Cyst 15 + 6 14 + 1 wk 1 4 778.5 Scalp Edema 15 + 6 14 + 1 wk 1 4 752.08 Possible Ovarian Cyst 15 + 6 14 + 1 wk 1 4 756.08 Forehead Appears Prominent 15 + 6 14+ 1 wk 1 4 754.82 Bell Shaped Throax 15 + 6 14 + 1 wk 1 4 756.79 Thickening of Abdominal Wall 15 + 6 14+ 1 wk 1 4 755.88 All Long Bones are «5%centile 39702 23 19 + 1 wk 4 3 762.21 Placental Resistance, Absent Ediastatic Flow 23 19 + 1 wk 4 3 No Fetal Abnormalities Seen Other than IUGR 23 19 + 1 wk 4 3 764.9 IUGR 39721 16 1 1 Apparently Normal Gestation 39728 12 + 2 1 2 553.1 Omphalocele, Large Abdominal wall Defect Consistent with, 39736 14 + 3 1 1 No Gross Fetal Anomalies Seen 14 + 3 1 1 Cardiac Anatomy Poorly Seen 39757 11 1 1 Uncomplicated Transcervical CVS 11 1 1 752.38 Acutely Retroverted, Retroflexed Uterus 3978S 16 + 2 4 t 750.7 No Stomach Could Be Seen 16 + 2 4 1 753.20 Mild Distention of Renal Pelvis 16 + 2 4 1 756.18 Distal Spine Appears Splayed 16 + 2 4 1 753.69 Dilated Proximal Urethra 16 + 2 4 1 753.29 Double Collecting System, R Side, Possibly Bilateral 16 + 2 4 1 789.9 Large Abdominal Cystic Mass 16 + 2 4 1 753.88 Likely Dilated Bladder 16 + 2 4 1 754.03 Dolicocephalic Head 16 + 2 4 1 761.2 Severe Oligohydramnios 16 + 2 4 1 753 0 Possible Renal Dysplasia, (hyperechogenic parenchyma) 39794 19 17 1 1 756.61 Possible Diaphragmatic Hemia 19 17 1 1 742.26 Holoprosencephaly 19 17 1 1 742.23 Hypoplastic Cerebellum 19 17 1 1 744.88 Nuchat Edema 19 17 1 1 756.08 Hypotelorism 19 17 1 1 Heart Abn with only 2 Chambers Clearly Seen 39819 16 14 3 4 Fetal Kidneys Appear Echogenic 16 14 3 4 764 9 IUGR 16 14 3 4 753.34 Fetal Kidneys Appear Enlarged 16 14 3 4 750.73 Fetal Stomach is Displace to the L Side of Chest 16 14 3 4 756.61 Possible Diaphragmatic Hemia 16 14 3 4 746.80 Fetal Heart is Displaced to the R Side of Chest 39905 19 2 1 Single Live Fetus 19 2 1 764.9 Growth is less than expected, head & abd. measure'nts are less than 10%tile although femur length are norm 19 2 1 761.2 In combination with mild Oligohydramnios 19 2 1 Suspicious for Chromosomal Abnormality 39930 ? 15 + 1 I 1 553.1 The Umbilical Cord Appears to Originate out of the Mass, Consistent with Omphalocele ? 15+1 1 1 Due to Early Gest Age it is difficult to see fetal detail well Appendix II Ultrasound Findings Code EGA EGA Amniotic Method Narrow Diagnosis: No: Dates U/S Fluid of TA Code: ? 15+ 1 1 1 Due to Maternal Body Habitus it is difficult to see fetal detail 7 15 + 1 1 1 553.1 An Omphalocele Seems to be Present ? 15 + 1 1 1 Difficult to Assess Detail Due to Maternal Body Habitus ? 15 + 1 1 1 No Other Gross Fetal Anomaly is Seen 7 15+1 1 1 A Midline Mass Adjacent to Anterior Abd. Watt ? 15+1 1 1 Imp: Can Be Associated with Chromosomal Abn. 30031 14, 12LongM.P. t 4 751.58 Possibly Mesenteric Cyst 14, 12 Long M.P. 1 4 Difficult to Assess Kidney 14, 12LongM.P. 1 4 753.71 Possibly Urachal Cyst 14, 12 Long M.P. 1 4 752.08 Possibly Ovarian Cyst 14, 12 Long M.P. 1 4 753.88 Likely Dilated Bladder, Large cystic structure in Lower Abdomen 14,12 Long M.P. 1 4 228.1 Large Cystic Hygroma 14,12 Long M.P. 1 4 Difficult to Assess Heart 30033 15 + 3 1 1 No Fetal Anomalies Seen Today 15 + 3 1 1 4 Chamber View of Heart OK 15 + 3 1 1 Short Axis View of Heart Not Visualized 30043 19 1 2 756.02 Hypertelorism 19 1 2 747.38 Small Pulmonary Artery, with Subpulmonary Muscle 19 1 2 742.48 Posterior Fossa Cyst 19 1 2 745.20 Imp: Tetralogy of Fallot 19 1 2 747.19 Large Overriding Aorta 19 1 2 745,49 VSD 30033 16 + 6 1 2 Coronal View Not Seen 16 + 6 1 2 755.88 R Side Limb Abnormality, hand adherent to head 16 + 6 t 2 755.32 Possible Leg Amputation at Knee 16*6 1 2 762.8 Possible Amniotic Band Syndrome 16 + 6 1 2 553.1 Possible Omphalocele, with liver in situ 16*6 1 2 742.09 Large Encephalocele with brain adherent to placenta 16 + 6 1 2 740.01 Acram'a 16 + 6 1 2 741.99 Possible Spinal Dysraphism 40103 26 + 2 24 1 1 771.21 Possible Toxoplasmosis Infection (Mat. toxo infection) 26 + 2 24 1 1 742.23 Cerebellar Hypoptasia/Degredation 26 + 2 24 1 1 742.48 Small Layer of CSF Btwn Skull & Brain Tissue 26*2 24 1 1 742.38 Enlarged Cisternal Magna + 4th Ventricle 26*2 24 1 1 742.20 Generalized Cerebral Shrinking 40114 22 + 5 21 1 2 764.9 Asymmetrical IUGR, Fetal Trunk <10%centile 22 + 5 21 1 2 755.51 Possible Chr. Abnormality 22 + 5 21 1 2 Clenched L Hand, with Finger Overlapping 22 + 5 21 1 2 750.7 Stomach Not Well Seen 40130 29 + 5 4 5 761.2 Severe Oligohydramnios 29 + 5 4 5 754.22 Lordotic Curve of Spine 29 + 5 4 5 756.08 Circular Head Shape 29 + 5 4 5 756.18 No Lower Spine Could be Identified 29 + 5 4 5 756.7 Difficult to Identify Body Wall 29 + 5 4 5 762 6 Difficult to Identify Umbilical Cord 29 + 5 4 5 755.6 Pelvic Bones Could Not Be Seen 29 + 5 4 5 755.6 Lower Limbs could not be Identified 29 + 5 4 5 789.9 Difficult to Identify Intraabdominal Organs 40133 34 1 2 553.1 Small Omphalocele 34 1 2 753.20 Bilateral Moderate Hydronephrosis 34 1 2 752.88 Ambiguous Genitalia 34 1 2 754.73 Club Feet 34 1 2 Suggest: Trisomy 13 of 18 34 1 2 749.21 Bilateral Cleft Palate 34 1 2 749.21 Bilateral Cleft Lip 34 1 2 756.08 Strawberry Shaped Skull 34 1 2 745.63 AV Canal Defect 40134 27 + 2 5 3 755.28 Absence of R Ulnar Bone, June 22 exam 27*2 5 3 749.19 Cleft Lip seen June 22 exam 27 + 2 5 3 764,9 Femur <10%centile 27 + 2 5 3 764,9 Head <10%centile 27*2 5 3 745.49 VSD 27 + 2 5 3 747.32 Small PA's 27 + 2 5 3 747.21 Large Overriding Aorta 40113 13 1 4 744.88 Extensive Nonseptated Diffuse Nuchal Edema 13 1 4 778.0 Fetal Hydrops 40161 19 + 4 1 1 Short Axis View of Heart Poorly Seen 19 + 4 1 1 2 AV valves with Foramen Flags Appendix II Ultrasound Findings 129 Code EGA EGA Amniotic Method Narrow Diagnosis: No: Dates U/S Fluid ot TA Code: 19 + 4 1 1 Cardiac Scan, Technically Difficult due to Fetal Position 401 SO 16 + 4 16+1 1 1 778.0 Ascites 16 + 4 16+1 1 1 744.91 Face Pooriy Seen 16 + 4 16+1 1 1 511.9 Pleural Effusion 16 + 4 16+1 1 1 553.1 Large Omphalocele with Bowel and Liver Inside 16 + 4 16 + 1 1 1 Heart Poorly Seen 401 S3 9 + 5 13 1 4 740.01 Acrania 9 + 5 13 1 4 Fetal Size Corresponds to 13 weeks 40186 16+1 1 1 Apparently Normal Gestation 40187 19 + 3 1 2 746.08 Pulmonary Valve Looks Atictic with small MPA 19 + 3 1 2 746.2 Probably Ebsteins Anomaly 19 + 3 1 2 746 00 Suggest Pulmonary Valve Atresia 19 + 3 1 2 746.88 Large RA Ductus Angle 19 + 3 1 2 746.1 Abnormal Tricuspid Valve 40311 18 + 3 1 2 742 26 Fused Thalami with Monoventricle 18 + 3 1 2 764 9 IUGR, growth <10%centile 18 + 3 1 2 742.1 Microcephaly 18 + 3 1 2 750.7 No Stomach Bubble Seen 18 + 3 1 2 Single AV Valve 18 + 3 1 2 756 08 Hypotelorism 18 + 3 1 2 742.26 Semilobar Holoprosencephaly 18 + 3 1 2 756.08 Midline Defect Suspected in Maxilla 18 + 3 1 2 745.4 No Ventricular Septum Seen 18 + 3 1 2 755.51 Bilateral Hand Anomalies Suspected 18 + 3 1 2 742.48 Possible Posterior Falx 4031S 17 + 6 1 2 755.51 Both Hands Appear Adducted in Front of Face 17 + 6 1 2 755.5 Arms Flexed at Elbows 17 + 6 1 2 755.88 No Movement Observed During Scan 17 + 6 1 2 Difficulty Encountered in Assessment of Fetal Details 40356 11+4 1 4 Fetal Size Corresponds With Dates 11+4 1 4 753.8 Prominent Fetal Bladder Seen 40366 25 + 4 4 2 Imp: Cloacal Disorder 25 + 4 4 2 753.18 Small Cysts Seen in Renal Fossae 25 + 4 4 2 753 15 Possible Cystic Dysplasia of Kidneys 25 + 4 4 2 751 5 Possible Dilated Bowel 25 + 4 4 2 753 48 Possible Dilated Ureters 25 + 4 4 2 753.8 Bladder not visualized 25 + 4 4 2 748.51 Associated Lethal Pulmonary Hypoplasia 25 + 4 4 2 753.00 No Normal Appearing Renal Structures Seen 25 + 4 4 2 visualization Difficult due to Maternal Body Habitus 40370 13 + 3 1 1 779.9 No Fetal Heart Beat, IUD 13 + 3 1 1 778.0 Fetal Hydrops 40372 22 4 2 761.2 Severe Oligohydramnios 22 4 2 756.08 Abnormal Head Shape 22 4 2 759.89 Possible Meckel Gruber Syndrome 22 4 2 747.2 Unable to see Proper Aortic Arch 22 4 2 761 70 Incomplete Breech Position 22 4 2 756.07 Small Anterior & Possible Posterior Cephaloceles 22 4 2 Large Bladder that did not empty during exam 22 4 2 750.7 No Stomach Bubble Seen 22 4 2 753.20 Moderate Bilateral Hydronephrosis 22 4 2 753.13 Polycystic Kidney 22 4 2 755.38 Fetal Femur <10%centile 22 4 2 756.08 Abn Head Shape 40375 19 + 3 2 2 761.2 Oligohydramnios is present to same degree after amnio infusion 19 + 3 2 2 759.18 Secondary Adrenal Hypertrophy 19 + 3 2 2 753.00 Suggestiv Renal Agenesis 19 + 3 2 2 753.00 Suggestive Dysplastic Kidneys 19 + 3 2 2 753.88 Very Small Bladder 19 + 3 2 2 Kidneys seem to be present but difficult to assess due to hyperechogenicity 40514 23 1 2 747.5 2 Vessel Cord 23 1 2 747.48 Bilateral Superior Venae Cavae 23 1 2 742.39 Hydrocephalus 23 1 2 759.30 Dextrocardia 23 1 2 747.28 L Sided Aorta 23 1 2 742 48 Septum Pellucidum Not Seen 23 1 2 747 38 Smaller Pulmonary Artery Appendix II Ultrasound Findings 130 Code EGA EGA Amniotic Method Narrow Diagnosis: No Dates U/S Fbid of TA Code 23 1 2 746.00 Small Atretic Pulmonary Vahv'e 23 1 2 745 11 Double Outlet Right Ventricle 23 1 2 746.88 Smaller Morphological R Ventricle 23 1 2 745.49 VSD 23 1 2 Situs Indeterminate 23 1 2 759.30 Situs Inversus 40131 17 14 + 1 1 1 756.08 Proboscis 17 14 + 1 1 1 742.26 Alobar Holoprosencephaly 17 14+1 1 1 Heart Difficult to Assess 17 14* 1 1 1 747.5 Single Umbilical Artery 17 14+1 1 1 755.09 Polydactyly 17 14+1 1 1 742.48 Ethmocephaly with Hypotelorism 17 14 + 1 1 1 742 48 Presence of a Dorsal Sac Communicating with Monoventricular Cavity 17 14 + 1 1 1 742 48 Abn Cerebral Cortex 17 14 + 1 1 1 742 48 Fused Thalmi with no Falx Demonstrated 17 14 + 1 1 1 742 48 Monoventricular Cavity 17 14 + 1 1 1 742 48 Abn Midline Structures 40140 16 + 3 4 1 756.08 Suspicion of Facial Cleft 16 + 3 4 1 762.20 Blood Clot Organized in Fundus 16 + 3 4 1 742 48 Abnormal Fluid Containing Posterior Fossa 16 + 3 4 1 761 2 Severe Oligohydramnios 16 + 3 4 1 742.26 Suggested Alobar Holoprosencephaly 40117 13 11-12 1 4 Possible Meningocele or encephalocele 13 11-12 1 4 754 22 Throax and Abdomen Appear to be Doubled onto the head 13 11 - 12 1 4 755 38 Only one Lower Limb Seen 13 11-12 1 4 789.9 Difficult to make assessment of Abdominal Structures 13 11-12 1 4 756.1 Spine Cannot be Traced in its entirety 40106 20 4 1 Difficurt Exam Because of Maternal Size and Oligohydramnios 20 4 1 759.7 Imp: Probable Urinary Ascites, Anhydramnios and Hemivertebrae 20 4 1 754 73 Likely Club Foot, R Side 20 4 f 756.15 Mid Thoracic Kink in Spine Probably Due to 1/2 Vertebrae 20 4 1 753.01 R Kidney not seen 20 4 1 7538 Bladder not seen today 20 4 1 761.2 Severe Oligohydramnios 20 4 1 778.0 Massive Ascites 40307 20 + 2 1 1 742.39 Evidence of Increased Lateral Ventricles, Bilateral 20 + 2 1 1 742.39 Hydrocephalus 40714 17 16 1 1 Fine Detail Study Difficult to Fetal Position 17 16 1 1 228.1 Large Cystic Hygroma 17 16 1 1 778.5 Generalized Skin Edema 17 16 1 1 511.9 Pleural Effusions 17 16 1 1 753 20 Bilateral Hydronephrotic and Edematous kidneys 17 16 1 1 754.73 Clubbing of Both Feet 40713 33 + 6 1 2 755.51 Clenched Hands 33 + 6 1 Abn. Growth 33 + 6 1 2 746 7 Hypoplastic L Heart 33 + 6 1 2 755.51 Overriding Fingers 33 + 6 1 2 778.6 Possible Hydrocele 33 + 6 1 2 553 1 Small Omphalocele 33 + 6 1 2 742.38 Dilated 3rd Ventricle, Cisterna Magna + Occipital Horns 33 + 6 1 742.23 Deffuse Cerebellar Atrophy 33 + 6 1 2 742.20 Diffuse Cerebral Atrophy 33 + 6 1 2 742.42 Choroid Plexus Cyst 33 + 6 1 2 Trunk and Femur are 30 wk size 33 + 6 1 753 38 Malrotated L Kidney 33 + 6 1 2 756.08 Fetal Head is 41 -42 wk size 40710 16 1 1 Fetal Growth Corresponds to Dates 40720 18 + 3 15+1 1 1 228.1 Cystic Hygroma, with posterior Nuchal Skin Edema 18 + 3 15+1 1 1 Other Details Not Obtained 40743 ? 14 + 3 1 1 228 1 Nuchal Edema (7 mm) Identified (- Cystic Hygroma) 7 14 + 3 1 1 762 8 Area of unfused Amnion noted 40743 16 + 2 1 1 75661 Likely Diaphragmatic Hernia 16 + 2 1 1 750.7 Fetal Stomach at Same Level as Fetal Heart 16 + 2 1 1 746 80 Heart is Slightly Chyelaced to Right 40743 26 + 3 6 2 748.51 Lethal Pulmonary Hypoplasia 26 + 3 6 2 75551 Hands Appear Fixed in Open Position 26 + 3 6 2 756.08 Suggested Clover Leaf Skull Deformity Appendix II Ultrasound Findings Code EGA EGA Amniotic Method Narrow Diagnosis: No: Dates U/S Fluid ot TA Code: 26 + 3 761.3 Polyhydramnios 26 + 3 756.44 Impression: Thanatophoric Dwarfism 26 + 3 754.82 Small Bell Shaped Chest 28 + 3 Severe Asymmetrical Growth Retardation, abdomen circumference at 22 wks 28 + 3 Suggestive of Chromosome Abnormality 23 + 3 No Fetal Movements During Exam 23 + 3 750.30 Possible Esophageal Atresia 23 + 3 750.7 No Stomach Seen Today 23 + 3 746.88 Pericardial Effusions 23 + 3 511 9 Pleural Effusions 23 + 3 757.39 Anasarca 23 + 3 746.77 Absent Diastolic Flow 23 + 3 778 5 Generalized Skin Edema 23 + 3 754 73 Suspected Bilateral Club Feet 23 + 3 778.0 Ascites 742 48 Thalami appear rounder than usual 742 48 Fluid Filled Stuctures Occupying Temporal, Frontal and to a lesser degree Occipital Areas 742 48 Abn. Intracranial Anatomy 756 08 Abnormal Head Size (< 10%centile) 742.26 Imp: Alobar or Lobar prosencephaly 19 744.88 Increased Nuchal Thickening 19 756.08 Intraorbital Diameter <5%centile 19 4 chamber view of Heart Not Obtained AV vatves Hyperechogenic 26 + 5 23-24 741 05 Mild -Moderate Ventriculomegaly of lateral ventricles - No Dilatation of 3rd Ventricle 26 + 5 23-24 742.20 Cerebellum is not visualized 26 + 5 23-24 741.05 The lower spine from approx. L1 is abnormal with dysraphism 26 + 5 23-24 764 s Head at the mean for 23 wks while trunk at the mean for 24 wks. 26 + 5 23-24 Amniocentesis Successful - single tap 26 + 5 23-24 741.05 Lower spine, a small meningocele 26 + 5 23-24 754 20 Scoliosis, lower spine 26 + 5 23-24 755.51 Both Fists are clenched 26 + 5 23-24 764.9 Fetal Head and Trunk measure below the 10th centile for gest. age 26 + 5 23-24 754.73 Both Feet are clubbed 753.88 Large Fetal Bladder Possible Outlet Obstruction 228.1 Cystic Hygroma Probable Chromosome Abnormality 228.1 Cystic Hygroma 778.5 Gross Generalized Edema 778.5 Generalized Subcutaneous Edema, Around Head and Neck 21+6 20 + 2 742.38 Mild Lateral Ventricular Dilation 21+6 20 + 2 742.48 Abnormal Cerebrellar Region 21+6 20 + 2 Small Lumbosacral Meningocele 21+6 20 + 2 742.28 Obliterated Cistema Magna 21+6 20 + 2 756.08 Lemon Shaped Skull U/S Confirms Menstral Dates 742.48 Fusion of Thalmi 742.26 Single Anterior Ventricle 17 742.26 Imp: Holoprosencephaly 17 749.29 Strong Suspicion of Cleft Lip 17 749.29 Strong Suspicion of Cleft Palate 742 48 Brain is Grossly Abnormal No Fetal Abnormality Identified Size = Dates Anterior Omphalocele Containing Liver 23 750.7 Stomach Not Identified 23 746.88 Wall of L Ventricle Appears Thickened 23 753.8 Bladder ? Present 23 753.00 Kidneys not Positively Identified 23 761.2 Severe Oligohydramnios 23 746 88 Heart R Ventricle Appears Dilated 20 + 4 779.9 IUD 20 + 4 742 39 Moderate Ventriculomegaly 20 + 4 747.5 Possible Single Umbilical Artery Appendix II Ultrasound Findings Code EGA EGA Amniotic Method Narrow Diagnosis: No: Dates U/S Fyd of TA Code: 41002 17 + 3 1 2 Apparently Normal Gestation 41013 17 1 1 Increased Risk of Aneuploidy 17 1 1 751,24 Possible Anal Atresia 17 1 1 228 1 Cystic Hygroma 17 1 1 751,58 Dilated Tortuous Rectosigmoidal Colon 17 1 1 777.6 Suggested Meconium Peritonitis 17 1 1 764 9 Fetal Size at 10%centile 17 1 1 751.5 Echogenic Bowel 41023 16 1 1 762.2 Large Placental Lake is Present 16 1 1 764 9 IUGR 16 1 1 553.1 Large Omphalocele Containing Stomach and Liver 16 1 1 4 chamber view of heart not seen 16 1 1 753.8 Bladder not identified with certainty 16 1 1 753 00 Kidneys not identified with certainty 41030 16 + 5 1 2 740,01 Acrania/ Exencephaly 16 + 5 1 2 No other fetal anomalies seen today 41031 18 4 t 756.12 Thoracic Kyphosis 18 4 1 753 00 Kidneys not Identified 18 4 1 553.1 Large Omphalocele 18 4 1 754.73 R Clubbed Foot 18 4 1 755 38 Dependent L Tib/Fib/Foot Not Identified 18 4 1 754,03 Severe Dolioocephaly 18 4 1 744 8 Face could not be positively examined 18 4 1 Heart could not be positively identified 18 4 1 761.2 Severe Oligohydramnios 41037 11+6 1 1 Normal Fetal Growth 41040 16 + 5 3 1 761.2 Moderate Oligohydramnios 16 + 5 3 1 758.69 Impression: Turners Syndrome 16 + 5 3 1 228.1 Moderate Size Cystic Hygroma 16 + 5 3 1 Heart is Difficult to Assess 16 + 5 3 1 751.5 Echogenic Bowel 41033 30 + 4 29 5 3 747.5 2 Vessel Cord 30 + 4 29 5 3 764 9 Growth Retardation 30 + 4 29 5 3 746.88 Large L Ventricle 30 + 4 29 5 3 745.49 VSD 30 + 4 29 5 3 746,1 Tricuspid Atresia 41034 17 + 4 16+ 1 4 1 753 00 No Renal Structures Seen 17 + 4 16 + 1 4 1 761.2 Severe Oligohydramnios 17 + 4 16+ 1 4 1 753,00 Impression: Bilateral Renal Agenesis 41063 19 + 3 ' 1 756 44 Imp: Consistent with Thanatophoric Dysplasia.Type I 19 + 3 1 1 756 44 Severe Micromelic Dwarfism (all Long Bones Are Markedly Belwo the 10%centile) 19 + 3 1 1 755 88 Long Bones are Bowed 19 + 3 1 1 Ossification of Bones, Skull, & Vertebrae is Normal 19 + 3 1 1 Skull Shape and Intracranial Structures are Normal 19 + 3 1 1 Fetal Movement Noted 19 + 3 1 1 754.82 Bell Shaped Thorax Due To Rib Cage Narrowing 41076 17+1 1 1 No Fetal Anomalies Seen Today 41033 16+1 1 1 Size and Anatomy Appear Normal 41037 11 1 2 No Safe Site Available for CVS - rebooked for genetic amnio 11 1 2 U/S Confirms Menstral Dates 11 1 Uterus Retroverted with ? large ant. fibroid or uterine contraction 41005 19 + 5 1 1 754.73 Bilateral Club Feet 19 + 5 1 1 741,99 Spinal Dysraphism at T10 19 + 5 1 1 756,08 Associated Lemon Shaped Skull 19 + 5 1 1 741.01 Arnold Chiari Malformation 19 + 5 1 1 742,39 Ventriculomegaly 19 + 5 1 1 764,9 Head Biometry at 10%centile 41214 16 + 1 3 1 228.1 Cystic Hygroma 16 + 1 3 1 778.0 Fetal Hydrops 16 + 1 3 1 761.2 Moderate Oligohydramnios 41210 15 + 6 1 1 Size and Anatomy Appear Normal 41220 16 + 1 1 2 753.8 Fetal Bladder not Seen Appendix II Ultrasound Findings 133 Code EGA EGA Amniotic Method Narrow Diagnosis: No: Dates U/S Fluid of TA Code: 16 + 1 1 2 750.7 Fetal Stomach not Seen 16 + 1 1 2 754.73 Both Feet Appear Clubbed 16+ 1 1 2 Short Axis View of Heart Could Not Be Visulaized, Possible Anomaly Suspected 16+1 1 2 755.51 Fetal Hands are Flexed and Immobile 16+1 1 2 Imp: Suspect Arthrogryposis /Pterygium Syndrome or Risk of Chromosome Abn 16+1 1 2 No movement of extremities seen 16 + 1 1 2 778.0 Ascites Suspected 16 + 1 1 2 511.9 Minimal Bilateral Pleural Effusions Suspected 16 + 1 1 2 755.88 Limbs are Flexed 16+ 1 1 2 228.1 Large Cystic Hygroma Involving Neck, Head & Abdomen 16 + 1 1 2 778.5 Diffuse Skin Edema 41229 16 + 5 15* 1/2 1 1 778.0 Fetal Hydrops 16 + 5 15 * 1/2 1 1 778.5 Generalized Subcutaneous Edema 16 + 5 15 * 1/2 1 1 778.0 Fetal Ascites 16 + 5 15* 1/2 1 1 511.9 Pericardial Effusion 41211 13 + 4 1 1 228.1 Cystic Hygroma for Occiput to Mid Abdomen 41235 22 + 1 1 1 748.10 Absent Nasal Septum and Nasal Structures 22 + 1 1 • 1 749.29 Cleft Palate 22 + 1 1 1 743.67 Hypoplastic Orbit on R (possible soft tissue mass or prominence) 22 + 1 1 1 743.67 Hypoplastic Orbit on L with Globe Not Seen 22+ 1 1 1 742.48 Absent Fafx 22+1 1 1 742.48 Normal Thalamus and Midbrain Structures Not Seen 22 + 1 1 1 74 2 48 Large Rt Lateral Ventricle Which Crosses Midline 22 • 1 1 1 742 48 Small L Lateral Ventricle 22 + 1 1 1 742.20 Disorganized and Hypoplastic Cortical Tissue L Cerebrum 22 • 1 1 1 742.1 Microcephaly 22 + 1 1 1 742.48 Imp: Severe Forebrain and Facial Anomalies 22+1 1 1 749.29 Cleft Lip 41267 15 + 3 14 3 1 761.2 Moderate Oligohydramnios 15 + 3 14 3 1 744.88 Nuchal Edema from Head to Thorax 15 + 3 14 3 1 753.88 Grossly Distended Fetal Bladder 15 + 3 14 3 1 742.42 Bilateral Choroid Plexus Cysts 15 + 3 14 3 1 753.3 Possible Hypoechogenic L Kidney 15 + 3 14 3 1 778.0 Ascites 41230 16 1 1 Abnormal Heart ? Left Side 16 1 1 553.1 Large Omphalocele - contains liver predominantly 16 1 1 Abnormal Heart, Small Aorta 16 1 1 Fetal Growth is Appropriate For Dates 16 1 1 742.42 Bilateral 8 mm Choroid Plexus Cysts 41234 17 2 2 740.01 Exencephaly (Acrania) 17 2 2 741.90 Suspected Rachischisis involving Cervical and Thoracic Spine 17 2 2 Examination of anatomic detail is suboptimal due to maternal body habitus and low amniotic fluid 17 2 2 553.1 Suspect A Small Omphalocele 17 2 2 No Other Anomalies Seen 41290 10 + 5 1 1 Ultrasound Confirms Menstral Dates 41200 15 + 5 12*4/14*4 1 4 779.9 Intrauterine Demise 15 + 5 12*4/14*4 1 4 744.88 Nuchal Translucency 15*5 12*4/14+4 1 4 756.15 Spine Widening in Throacic Region 15 + 5 12*4/14*4 1 4 756.08 Head measured -12 + 4 wks size 15*5 12+4/14+4 1 4 Femur measured -14 + 4 wks size 15*5 12*4/14+4 1 4 756.08 Hypoplastic Skull Bone Appearance 41400 18 1 1 756.71 Gastroschisis, Anterior Body Wall Defect 41404 23 23 1 2 No Other Anomalies Seen 23 23 1 2 741.00 Ventriculomegaly 23 23 1 2 756.08 Lemon Sign 23 23 1 2 754.73 Bilateral Club Feet 23 23 1 2 741.00 Extensive Spinal Dysraphism - open from T12-L1 to Sacrum 23 23 1 2 Amnio - Single Clear Tap, F/H +ve after 41427 19 16 + 6 1 1 756.08 Lemon Shaped Skull 19 16 + 6 1 1 741.01 Ventriculomegaly 19 16 + 6 1 1 Heart Difficult to See 19 16 + 6 1 1 756.12 Kyphoscoliosis 19 16 + 6 1 1 756.18 Hemivertebrae 19 16 + 6 1 1 754.22 Acute Curvature of Spinal Cord 19 16 + 6 1 1 742 48 Banana Shaped Cerebellum 19 16 + 6 1 1 741.01 Meningomyelocele 19 16 + 6 1 1 741.01 Arnold Chiari Malformation 41431 Appendix II Ultrasound Findings 134 EGA EGA Amniotic Method Narrow Diagnosis: Dates U/S Fluid of TA Code; 18-19 16+1 4 2 753.00 No Definite Kidneys 18-19 16 • 1 4 2 761.2 Severe Oligohydramnios 18-19 16 • 1 4 2 751.5 Hypoechogenic Area in Pelvis Looks More Like Dilated Bowel Not Normal Bladder 18-19 16 + 1 4 2 750.7 Stomach may be present 18-19 16 + 1 4 2 751.5 Echogenic Bowel 18-19 16+ 1 4 2 Cisterna Magna Not Seen 18-19 16*1 4 2 Heart Detail Not Seen 18-19 16+1 4 2 Difficult to Assess Fetal Anatomy 18-19 16* 1 4 2 764.9 Asymmetrical IUGR 18-19 16+1 4 2 Cerebellum Not Seen 16*2 1 , 744.88 Increased Nuchal Thickening 16*2 1 1 4 Chamber View of Heart Could Not Be Seen , 3 All Structural Cardiac Anatomy Seen and Appear Normal 1 3 No Obvious Features of Down's Syndrome by U/S 19*3 16 + 3 4 , 764.9 IUGR, Fetal Size Does Not Correspond To Dates 19*3 16 + 3 4 1 761.2 Severe Oligohydramnios 19 + 3 16 + 3 4 1 753.00 Impression: Bilateral Renal Agenesis 19*3 16 + 3 4 1 753.8 No Fetal Bladder Visualized 19 + 3 16 + 3 4 1 753.0 No Fetal Kidneys Visualized 18 + 2 17* 1 , , 756.61 L Diaphragmatic Hemia 18 + 2 17+1 1 1 746.80 Dextraposition of the Heart 17 , , 749.11 Bilateral Cleft Lips 17 1 1 746.88 Possible Hypoplastic L Ventricle 17 1 1 746.88 Possible Hemiventricle 23* 1 4 3 74S.88 Enlarged R Ventricle 23* 1 4 3 228.1 Large Cystic Hygroma 23 • 1 4 3 778.5 Edema Encompassing the Entire Fetal Body 23+1 4 3 511.9 Pleural Effusion 23+1 4 3 746.6 Abnormal Mitral Valve 23+1 4 3 746.88 Enlarged R Atruim 23* 1 4 3 746,88 Small L Ventricle 23 + 1 4 3 746.88 Small L Atrium 23 + 1 4 3 778.0 Ascites 17 + 1 , 2 742,48 Banana Sign Present 17 + 1 i 2 741,99 Spinal Lesion, Starting L3-Sacral 17 + 1 1 2 756.08 Lemon Sign, Abnormally Shaped Head 25-26 , 2 Normal Mineralization 25-26 i 2 755.88 Mild Bowing 25-26 i 755,88 All Extremities Severely and Diffusely shortened with no fractures 25-26 i 2 755.51 Hand Arthrogryposis 25-26 1 2 754.82 Very Small Thorax 25-26 1 2 756 44 Impression: Thanatophoric Dwarfism or Other Skeletal Dysplasia 25-26 2 754.73 Clubbed Feet 17 + 4 , 1 746.88 Large R Ventricle 17 + 4 i 1 753.20 Moderate Fetal Hydronephrosis, Bilateral 17 + 4 i 1 746.7 Impression: Hypoplastic L Heart 17 + 4 1 1 746.86 Prominent ? Papillary Muscles 17 + 4 1 1 745.63 Probable AV Septa! Defect 17 + 4 1 ' 746,88 Hypoplastic L Ventricle 19 3 1 4 Chamber view of heart is technically difficult, 4 chambers and 2 grt vessels identif 19 1 753.00 Probable Dysplastic Renal Development 19 3 1 753.8 Possible small bladder seen 19 3 1 753.00 No normal renal structures seen 19 3 1 Technically Difficult Cardiac Scan 19 3 1 756.0 Spine Seen with Normal Apperance 19 3 1 4 Chambers And 2 Gt Vessels Identified 12 + 3 1 1 744.88 13 mm Nuchal Thickening 12 + 3 1 1 228.1 Cystic Hygroma 12 + 3 1- 1 Size Is Consistent With Menstral Dates 12 + 3 ' 1 Imp: Associated with Chromosomal Anomalies 18 18+ 1 wk 3 2 752,88 ? Ambiguous Genitalia 18 18+ 1 wk 3 2 762.8 ?? Retromembranal Clot on the R - Post. Walt (6x3 cm) 18 18+ 1 wk 3 2 753.20 R Fetal Hydronephrosis ( measured 18 X 10 mm, Severe) 18 18+ 1 wk 3 2 4 Chamber Heart Not Well Seen 18 18+ 1 wk 3 2 761.2 Moderate Oligohydramnios 18 18+ 1 wk 3 2 753.32 L Kidney Not Well Seen ? Horseshoe Kidney 18 18+ 1 wk 3 2 746.99 Definate Heart Anomaly Appendix II Ultrasound Findings Code EGA EGA Amniotic Metnod Narrow Diagnosis: No: Dates U/S Fluid of TA Code: 41640 24 22+1/2 1 2 No Obvious ASD or VSD 24 22 + 1/2 1 2 746.1 Tricuspid Valve Thickening with good motion 24 22 + 1/2 1 2 752.86 Possible Ambiguous Genitalia 24 22 + 1/2 1 2 742.38 Enlarged Cystema Magna 24 22 + 1/2 1 2 750.7 Stomach Not Seen 24 22 + 1/2 1 2 742.38 Mild Dilation of Lateral Ventricles 24 22+ 1/2 1 2 764.9 Fetus at the 10%centile for gestational age 24 22+1/2 1 2 753.20 Mild Bilateral Hydronephrosis 24 22+1/2 1 2 742.48 Widening of Space Btwn Cerebellar Hemispheres 41667 14 + 3 1 1 740.02 Anencephalic Fetus 41678 18 + 1 1 1 756,17 Sacrococcygeal Teratoma, Sacral mostly cystic mass with solid components 15 + 6 1 3 No Fetal Anomalies Seen Today 41698 20+1 1 2 754.73 Possible Club Feet 20+1 1 2 754.22 Unusual Lordosis/Scoliosis Pattern of Spine 20+1 1 2 747.21 Possible Mild Hypoplasia of Aorta 20+1 1 2 511.9 Pleural Effusions 20+1 1 2 778 0 Abdominal Ascites 20+1 1 2 228.1 Large Cystic Hygroma 20 + 1 1 2 778.0 Hydrops Affecting the Entire Trunk 41811 21 + 1 1 1 754.73 Bilateral Club Feet 21 + 1 1 1 511.9 Pleural Effusions 21 + 1 1 1 746.88 Pericardial Effusions 21 + 1 1 1 778.0 Ascites 21 + 1 1 1 228.1 Large Cystic Hygromal From Head to Abdomen 41814 17 + 3 1 2 741.99 Likely NTD, lower spine appears splayed 17 + 3 1 2 745.20 Probably Tetralogy of Fallot 17 + 3 1 2 746.86 Echogenic Papillary Muscles 17 + 3 1 2 747.38 Small Pulmonary Artery 17 + 3 1 2 746.88 Small R Ventricular Outflow Tract 17 + 3 1 2 747.26 Large Aorta Overriding the Septum 17 + 3 1 2 745.49 VSD 17 + 3 1 2 742.39 Fetal Ventriculomegaly 17 + 3 1 2 756.12 Kyphosis (What appears to be hemivertebrae) 41817 10 + 3 1 1 U/S Gestation = Dates 41869 22 + 2 1 3 753.88 Bladder Wall is Thickened 22 + 2 1 3 753.16 R Kidney is Replaced by a Cystic Mass 22 + 2 1 3 753 20 Mild L Renal Pelvis Dilatation 22 + 2 1 3 778,0 Mod. - Severe Ascites 41876 17 1 1 740 02 Anencephaly 41878 16 15 + 1 2 2 756.08 Abnormally Shaped Head 16 15 + 1 2 2 761.2 Mild Oligohydramnios 16 15 + 1 2 2 778.0 Fetal Hydrops 16 15 + 1 2 2 ?? Anorarea 16 15 + 1 2 2 778.0 Ascites 16 15 + 1 2 2 762.8 Complete Separation of Amnion 16 15+1 2 2 746.86 Echogenic Myocardium 16 15+1 2 2 4 Chamber View of Heart Not Seen 16 15 + 1 2 2 511.9 Pleural Effusions 41882 18 + 3 17 + 1 wk 1 1 740.01 Fetal Acrania/Exencephaly 18 + 3 17 + 1 wk 1 1 741.90 Rachischisis upper cervical spine 18 + 3 17+ 1 wk 1 1 764.9 IUGR, Size consistent with 17 wks 41886 17 1 2 754.73 Suspected Bilateral Club Feet 17 1 2 747.21 Suspected Hypoplastic Aorta 17 1 2 746.88 Suspected Hypoplastic L Ventricle 17 1 2 753.0 Fetal Kidney Not Well Seen 17 1 2 753.8 Fetal Bladder Not Seen 17 1 2 750.7 Fetal Stomach Not Seen 17 1 2 228.1 Large Extensive Cystic Hygroma, Surrounding Head, Neck, Thorax and Abdomen 42018 17 1 1 Fetal Size Appropriate For Dates 17 1 1 No Anomalies Seen Today 42023 17 + 2 16 1 1 753.20 Min. Bilat. Renal Pelvis Dilation 17 + 2 16 1 1 No Abnormalities Seen Today 42033 18 + 4 13 Cardiac Scan: The cardiac structures and connections are normal Appendix II Ultrasound Findings Code EGA EGA Amniotic Metriod Narrow Diagnosis: No: Dates U/S Fluid of TA Code: 18 + 4 1 3 Dichorionic Twins - normal growth x 2 18 + 4 1 3 759.30 Situs Inversus Totalis onfirmed in both twins 18 + 4 1 3 No other fetal anomaly seen today 18 + 4 1 3 Normal Amniotic Fluid Volume x 2 18 + 4 1 3 The Cervix is Long and Closed 18 + 4 1 3 Suggest Follow up in 4 weeks 18 + 4 1 3 759 30 Cardiac Scan: Both twins have situs inversus totalis 42044 26 + 1 23 + 2 34 2 Detailed View of Heart Not Seen 26+1 23 + 2 34 2 754.73 Possible Club Feet 26 + 1 23 + 2 34 2 756.08 Brachycephalic Head Shape 26 + 1 23 + 2 34 2 749.19 Prominent CSP 26 + 1 23 + 2 34 2 761.2 Mod. To Severe Oligohydramnios 26 + 1 23 + 2 34 2 Detailed View of Extremities Not Seen 26 + 1 23 + 2 34 2 789.5 Cystic Area in Pelvis 26 + 1 23 + 2 34 2 747.5 Single Umbilical Artery 26 + 1 23 + 2 34 2 764 9 Severe Symmetric IUGR 26+1 23 + 2 34 2 744.9 Face Not Seen 26 + 1 23 + 2 34 2 756.61 Suspected Diaphragmatic Hernia 42065 18 1 1 751.5 Echogenic Bowel 18 1 1 746.80 Heart Deviated to Right 18 1 1 747.5 2 Vessel Cord 18 1 1 756.61 Presumed Diaphragmatic Hernia, with Stomach above diaphragm on Left 42066 16 12-13 1 1 744.88 Significant Nuchal Edema 16 12-13 1 1 742.26 Possible Holoprosencephaly (single ventricle, no midline) 16 12-13 1 - 1 Other Anomalies Cannot Be Exludend or Evaluated 16 12-13 1 1 764.9 Severe IUGR 420S7 11 + 1 1 1 Uncomplicated Transabdominal CVS 11 + 1 1 1 Size Equals Dates 42248 19 + 3 18 + 3 4 2 755.38 No L Fibia Seen 19 + 3 18 + 3 4 2 759.89 Impression: Caudal Regression Sequence 19 + 3 18 + 3 4 2 761 2 Severe Oligohydramnios 19 + 3 18 + 3 4 2 753.0 No Kidneys Seen 19 + 3 18 + 3 4 2 746.88 Small Pericardial Effusion 19 + 3 18 + 3 4 2 755.31 No R Femus, Tibia, Fibia Seen 19 + 3 18 + 3 4 2 753.8 Bladder Not Seen 42214 16 + 2 1 1 228.1 Cystic Hygroma 16 + 2 1 1 778.0 Fetal Hydrops (Skin Edema) 16 + 2 1 1 511.9 Pleural Effusions 16 + 2 1 1 Many Details Cannot Be Seen 42261 17 + 5 16 + 6 1 2 740.02 Anencephaly 42268 31 28-29 1 2 741.99 Severe Myelomenigocele 31 28-29 1 2 756.08 Possible Proboscis 31 28-29 1 2 745.49 VSD 31 28-29 1 2 745 63 AV Canal Defect 31 28-29 1 2 553.1 Omphalocele 31 28-29 1 2 742.48 Completely Disorganized Brain 42289 16 + 3 15 + 3 1 2 511.9 R Pleural Effusions 16 + 3 15 + 3 1 1 742.00 Occipital Encephalocele 16 + 3 15 + 3 1 2 742.48 Herniation of Cerebellum 16 + 3 15 + 3 1 2 553.1 Large Omphalocele 16 + 3 15 + 3 1 2 746.88 Levorotation of the Heart 16 + 3 15 + 3 1 2 753.20 Mild Unilateral L Hydronephrosis 16 + 3 15 + 3 1 2 759.89 Possible Meckel Syndrome 16 + 3 15 + 3 1 2 Possible Aneuploidy 16 + 3 15 + 3 1 2 742.39 Mild Dilation of Lateral and 3rd Ventricles 42294 14 + 5 1 1 751.5 Echogenic Bowel 14 + 5 1 1 511.9 Bilateral Pleural Effusions 14 + 5 1 1 228.1 Very Extensive Cystic Hygroma, from head to Lower Abdomen 42336 18 16 + 2 1 1 764.9 IUGR 18 16 + 2 1 1 746.88 Small L Ventricle 18 16 + 2 1 1 746.88 Dilated R Atrium 18 16 + 2 1 1 742.26 Holoprosencephaly 18 16 + 2 1 1 756.08 Hypertelorism 42401 15 + 5 1 1 U/S today is Consistent with Previous Seen For Dates/Size 42414 11 + 1 1 1 Transabdominal CVS - single aspiration for adequate tissue, f/h +ve after 11 + 1 1 1 Ultrasound Confirms Menstral Dates Appendix II Ultrasound Findings 137 EGA EGA Amniotic Method Narrow Diagnosis: Dates U/S Fkjid of TA Code 19 + 2 18+ 1 wk Outflow Tracts, SVC, IVC appear Normal 19 + 2 18+ 1 wk Moderate Size VSD with AV Canal Type Malformation 19 + 2 18+ 1 wk Fetal Size at 10%centile 23 20 Mild to Mod. Oligohydramnios 23 20 Symmetrical IUGR Fetal Size Larger than Expected by Dates 16 + 6 761,2 Severe Oligohydramnios 16 + 6 753.00 Bilateral Renal Agenesis 16 + 6 776.0 • Possible Fetal Hydrops 18+1 754.73 Bilateral Club Feet 18+1 755 66 Lower Limb Deformity 741.99 Probable Dysraphism - Lumbar Spine Vertebral Anomaly 22 + 2 756,08 Small BeO-Shaped Head 22 + 2 761.3 Mod. Polyhydramnios 23 22 + 2 Abn Long Bone Development, Undermineralization + Blossing 23 22 + 2 Suggest Thanatophoric Dwarphism 23 22 + 2 756.50 Suggest Osteogenesis Imperfecti 23 22 + 2 756.44 Suggest Campomelia 13 + 3 Possible Dandy-Walker Matformation, Cystic Structure in Post. Fossa 13 + 3 Bilateral Pleural Effusions 13 + 3 Large Cystic Hygroma 13 + 3 779 9 Intrauterine Fetal Demise, During Scan 13 + 3 761,2 Moderate Oligohydramnios 13 + 3 764 9 Growth Less Than Expected 16 + 2 741 01 Chiari Malformation 16*2 742 39 Mild Hydrocephalus 16 + 2 742 48 Choroid Plexus Cyst 16 + 2 741.99 Dysraphism Lumbar Spine Area Large Cystic Hygroma Suggestive of Aneuploidy 17 + 3 15 Bilateral Pleural Effusion 17 + 3 15 Mild Oligohydramnios Hydropic Fetus 18 + 5 17 + 5 742.48 Choroid Plexus is Inhomogeneous and Echopoor Centrally, but no cysts 18 + 5 17 + 5 755 26 Absent R Radius 18 + 5 17 + 5 No Other Anomalies Seen Today 18 + 5 17 + 5 755,28 Short, Irregular Ulna 18 + 5 17 + 5 755 52 Flexed Wrist 18 + 5 17 + 5 755,50 Separate Phalanges are not Identified 17 + 4 Probable CHD 17*4 755 26 Bilateral Radial Hypo/Aplasla 17 + 4 755 51 Bilateral Radial Deviation of Hands 13 + 2 12 + 1 228 1 Very Extensive Cystic Hygroma 13 + 2 12* 1 778.5 Skin Edema Involving Head, Neck and Abdomen 13*2 12 + 1 764,9 Size is less than expected for dates 28 No Other Major Anomalies Seen 28 761.2 Oligohydramnios 779.9 Intrauterine Demise 756 71 Abdominal Wall Defect Consistent with Gastroschisis 756 08 Overlapping Sutures 754.03 Dolicocephaly 10+1 14 + 2 Normal Placenta 10+1 14 + 2 Normal Growth 10+1 14 + 2 Mod. - Severe Oligohydramnios 16-1 778.0 Ascites are Noted 16-1 511.9 Bilateral Pleural Effusions 16-1 751.5 Bowel is Echogenic 16-1 753.0 Kidneys are Not Clearly Identified 16- 4 Chamber View of Heart Is Not Well Seen 16- 753.8 Bladder Cannot Be Identified 16-1 762.28 Placenta Is Inhomogeneous & Large 16 228.1 Extreme Cystic Hygroma Arising From the Neck 762,28 Thick Placenta Appendix II Ultrasound Findings Code EGA EGA Amniotic Method NaiTow Diagnosis: No: Dates U/S FKjid of TA Code: 16 + 5 2 1 758.69 Likely Turner Syndrome 16 + 5 2 1 778.5 Generalized Subcutaneous Edema 16 + 5 2 1 228.1 Bilateral Cystic Hygroma 42642 19*2 18 1 2 No L Ventricle 19 + 2 18 1 746 88 Large R Atrium 19*2 18 1 746.88 Small L Atrium 19 + 2 18 1 2 Single visible Ventricle « RVOT 19*2 18 1 2 746.7 L Ventricle Hypoplasia 19 + 2 18 1 2 Ductus going to small arch 42671 14 1 2 No other anomalies seen today 14 1 2 740.01 Acrania 14 1 756.14 Abnormal Widening of Cervical Spine 42634 16+ 1 14 • 1 3 1 761.2 Moderate Oligohydramnios 16+1 14 + 1 3 1 762.28 Suggestive Partial Molar Change in Placenta 16 + 1 14 + 1 3 1 553 1 Small Omphalocele 16+1 14+ 1 3 1 751 5 Highly Echogenic Small Bowel 16+1 14 + 1 3 1 758 58 Suspect Triploidy 16* 1 14 + 1 3 1 762 28 Suspect Partial Mole (Placenta) 16+1 14 + 1 3 1 7649 Small for Gestational Age 42691 16 1 1 762 8 Loose Amniotic Membrane 16 1 1 Cranium Present 42304 15 + 1 1 1 742.23 Cerebellum is either absent or hypoplastic - tentorium (sic) is not tense from obst. at this stage 15 + 1 1 1 228 1 Cystic Hygroma Identified with Edema to Mid Throax 15 + 1 1 1 U/S Consistent With Menstral Dates 15+ 1 1 1 758.69 Imp: Probably Turner Syndrome 15* 1 1 1 742.46 Posterior Fossa Cyst - 15+1 1 1 742.38 Possible Mild Dilation of 3rd Ventricle 42310 19*2 19 + 1/2 wk 1 1 764.9 Asymmetric IUGR 19*2 19 + 1/2 wk 1 1 754.9 7 Femur At 10%centile - Other Long Bones Normal 19 + 2 19 + 1/2 wk 1 1 Imp: Chromosomal Anomaly 19*2 19+ 1/2wk 1 1 756.14 Widening of the Cervical Spine 19*2 19 + 1/2 wk 1 1 7507 Stomach is Not Well Seen 19*2 19 + 1/2 wk 1 1 753 8 Bladder Not Seen 19 + 2 19 + 1/2 wk 1 1 753.20 Bilateral Fetal Hydronephrosis ( 4 & 5 mm) 19 + 2 19+ 1/2 wk 1 1 742.39 Lateral Ventricles are Prominent 19 + 2 19 + 1/2wk 1 1 753.16 Both Kidneys are Echogenic - Probably Dysplastic 19 + 2 19 + 1/2 wk 1 1 75661 ? Diaphragmatic Hernia 19 + 2 19 + 1/2 wk 1 1 4 Chamber View of Heart Not Obtained 19*2 19 + 1/2 wk 1 1 Midline Structures, Cerebellum, and Head Shape Appear Normal 19 + 2 19 + 1/2 wk 1 1 744 88 Nuchal Edema (6 mm) 19*2 19 + 1/2 wk 1 1 746 80 The Heart is on the Right Side of the Chest 19 + 2 19 + 1/2 wk 1 1 756.6 L and Anterior Aspect of the Diaphragm is Not Well Identified 19*2 19 + 1/2 wk 1 1 746.7 ? Hypoplastic L Heart 19 + 2 19 + 1/2 wk 1 1 742 48 Dangling Choroid Plexus 42320 11 1 1 Ultrasound Consistent with Menstral Dates 42326 23*4 16- 17wk 2 1 761 2 Difficult to see due to oligohydramnios 23*4 16- 17wk 2 1 764 9/771 Imp: Severe IUGR, Possible Viral Infection or Nonchromosomal Major Anomaly 23 + 4 16- 17 wk 2 1 764 9 Femur Growth Rate Declining 23 + 4 16-17 wk 2 1 742.23 Cerebellar Area Empty ? destroyed or displaced unable to see 23 + 4 16- 17wk 2 1 754 82 Tiny Thorax Full of Heart 23 + 4 16- 17wk 2 1 Difficult to see due to maternal abdominal wall 23 + 4 16- 17wk 1 764.9 Abnormal Growth Rate Also Declining 23 + 4 16- 17wk 2 1 756 08 Rate of Head Growth is V. Abnormal - now way «than 1st%centile 23*4 16- 17wk 2 1 761.2 Oligohydramnios 42343 16 + 2 1 1 756 08 Lemon Shaped Skull 16 + 2 1 1 742 39 Mild Hydrocephalus 16 + 2 1 1 No other Fetal Anomalies Identified Today 16 + 2 1 1 741.01 Banana Cerebellum due to Arnold Chiari 16 + 2 1 1 741.01 Sacral Meningomyelocele Suspected 42343 11 10 + 2 1 4 744.88 Nuchal Translucency form Occiput to Lower Trunk 42362 21 1 2 742.00 Large Occipital Encephalocele 21 1 2 No Other Obvious Anomalies 21 1 2 756 1 Difficutt to Assess the Rest of the Spine 21 1 2 747.5 Single Umbilical Artery 42334 5 2 553 1 Twin B - Omphalocele 5 2 Twins 5 2 Both Twins Normal Cardiac Appendix II Ultrasound Findings 139 EGA EGA Amniobc Method Narrow Diagnosis: Dates U/S Fluid of TA Code: Twin A - Normal Anatomy Fetat Size Corresponds to Dates 17 + 4 759.89 Imp: Renal Agenesis/Dysgenesis, Caudal Regression, VATER, or CAM type III (bilateral) 17 + 4 756.17 The Sacrum appears shorter although all of the ossification centers can be identified. 17 + 4 The Bowel is Echogenic 17 + 4 Echopoor structure is present in the pelvis, either a distended bladder or distended retrosigmoid 17 + 4 Imp: MCA maybe due to aneuploidy 17 + 4 Both Feet are Seen in a Club Position 17 + 4 Heart viens are normal 17 + 4 2 Vessel Cord 17 + 4 764.9 Lower Limbs show a femur at the 10%centile 17 + 4 754.03 Doltcocephalic Head Shape 17 + 4 761.2 Mod. Oligohydramnios 17 + 4 778.0 Small amount of Ascites 17 + 4 789.3 Abdomen is above 90th %centile 17 + 4 750.7 Stomach is not clearly identified 17 + 4 753.00 There are no normal appearing Kidneys 17 + 4 753.16 A structure is present on the left side that may represent a dysplastic kidney or bowel 17 + 4 744.88 Nuchal Fold Measures 7.5 mm 17 + 4 The diaphragmatic curve is inverted 17 + 4 Lungs appear of increased volume but normal echogenicity 17 + 4 Thorax Size is above 90th %centile 17 + 4 Other parts of Spine Appear Normal 24 + 6 761.2 Severe Oligohydramnios 24 + 6 753.8 Fetal Bladder Not Seen 24 + 6 753 38 Fetal Kidney are Very Large 24 + 6 753.0 Fetal Kidneys are Highly Echogenic 24 + 6 753.11 Impression: Infantile Polycystic Kidney Disease 24 + 6 762.6 Three Vessel Cord Noted 24 + 6 No Other Anomalies Seen 24 + 6 750.7 Fetal Stomach Not Seen 17 + 2 740.01 Suggestive of Acrania 17 + 2 740.01 Cranium is Absent 17 + 2 742.48 Brain Structure Underdeveloped 17 + 2 756.14 Cervical Spine Appears Larger (Associated with Cranial Nondevelopment) 17 + 2 740.02 Suggestive of Anencephaly Size = Dates by U/S Suggest Chromosome Analysis 32 + 4 No Other Anomalies Seen 32 + 4 Does Not Look Like Duodenal Atresia but Probably in Duodenal Length or High Jejunum 32 + 4 Polyhydramnios Indicates High Fetal Gl Tract Obstruction 32 + 4 Distended Stomach and Additional Fluid Filled Loops 32 + 4 Fetal Size Corresponds with Menstral Dates 18+1/2 Small Bladder 18+1/2 Small Pericardial Effusions 18+1/2 753.16 Microcystlc Dysplastic Kidneys 18+1/2 753.0 Hyperechogenic Kidney Growth and Anatomy Appear Normal Genetic Amniocentesis 15 753.00 Echogenic Kidneys (Dysplastic) 15 761.2 Mild Oligohydramnios 15 753.88 Distended Fetal Bladder 21+4 15 1 2 511.9 Bilateral Pleural Effusions 21+4 15 1 2 778.0 Ascites 21+4 15 1 2 742 48 Banana Cerebellum 21+4 15 1 2 751 5 Echogenic Bowel, Grade 1 21+4 15 1 2 753.01 Echogenic L Kidney 21+4 15 1 2 778.0 Gross Fetal Hydrops 21 +4 15 1 2 754,9 IUGR 21+4 15 1 2 228 1 Severe Cystic Hygroma 16 + 5 754.78 Abnormally Positioned Feet 16 + 5 742.42 Bilateral Choroid Plexus Cysts 16 + 5 Omphalocele 16 + 5 746.88 Bradycardia 16 + 5 750.78 Stomach Agenesis TwinA - Omphalocele endix II Ultrasound Findings EGA EGA Amniotic Method Narrow Diagnosis: Dates U/S Fluid of TA Coda: Twins 17 754.20 TwinA - Thoracolumbar Scoliosis 746.08 TwinA - R Deviation of the Heart 759.89 TwinA - Possible Body Wall Complex 779.9 TwinB - Intrauterine Demise 754.82 Small Bell Shaped Chest 17 + 6 749.29 Cleft Palate 17 + 6 749.29 Cleft Lip 17 + 6 756.44 Imp: Appears To Be A Case of Thanatophoric Dwarfism 17 + 6 742.21 ? Absent Corpus Callosum 17 + 6 742.39 Ventriculomegaly 17 + 6 755.88 Limb Shortening - Humerus, Ulna, Tibia, Femur < 5%centile (15 wk size) 17 + 6 756 49 MCA - Skeletal Dysplasia 17 + 6 No Fractures, Normally Calcified Bones 17 + 6 756.08 Cloverieaf Shaped Skull 740.02 Anencephaly Size and Anatomy Appear Normal 17 + 2 751 5 Echogenic Bowel 17 + 2 742.48 Inhomogeneous Choroid Plexus Appearance Fetal Size Corresponds With Dates 741.01 Meningomyelocele 15 741.01 Amold-Chiari Type II Malformation 15 742.52 Possible Diastematomyelia 741.01 Prominent Lateral Ventricle 553 1 • Omphalocele 228 i Mod. Cystic Hygroma, with edema extending to the lower thorax 746.80 Dextrocardia 745.3 Possible Single Ventricle 753.00 Possible Renal Agenesis 22 + 2 756.49 Imp: Skel Dysp c Polydact. ? Cardiac Anom. Mecon. Periton.. Chondroectoderm Dysp, Short Rio Polydact Synd, Asphyx Thoracic Dysp 22 + 2 755.88 All Long Bones Are Mod. to Severely Shortened (well below 5%centile) Shape & Density Appear Normal 22 + 2 754.82 The Thorax is Small (2-5%centile) 22 + 2 755.09 Both Hands Have 6 Digits 22 + 2 755 60 Feet are normal in size, but digits are not well seen 22 + 2 Could Not See the Interatrial Septum or Upper Interventriculare Septum Well 22 + 2 751.5 Highly Echogenic Bowel with small to moderate ascites present 15 Nuchal Edema 15 Cystic Hygroma 15 756.71 Abdominal Wall Defect 759.42 Conjoined Thoracopagus (single heart) Twins 15 + 5 750.7 Possible Dilated Stomach 15 + 5 789.9 Focal Echogenic Areas in the Abdomen 15 + 5 789 9 Cystic Area eith echogenic wall in abdomen 19 + 4 Possibly Poland Syndrome 19 + 4 Small Anterior Myoma 19 + 4 755 51 Rudimentary L Hand 19 + 4 755.53 Hypoplastic L Forearm Intrauterine Fetal Demise 14-15 Nuchal Edema 17 14-15 764.9 IUGR 17 14-15 779.9 Intrauterine Fetal Demise 18 + 3 753.01 Absent L Kidney 18 + 3 753.16 R Cystic Kidney 18 + 3 747.5 Single Umbilical Artery 18 + 3 753.88 Small Fetal Bladder Normal Gestation 17 + 2 742.48 Possible Arnold Chiari Malformation 17 + 2 74198 Possible Sacral Dysraphism 17 + 2 742 39 Dilated Lateral and 3rd Ventricles Cystic Hygroma' Appendix II Ultrasound Findings 141 EGA EGA Amniotic Method Narrow Diagnosis: Dates U/S Fluid o(TA Code: 744.88 Nuchal Edema Normal Gestation 21+2 742.26 Alobar Holoprosencephaly 21+2 749.21 Bilateral Cleft Lip 21+2 749.21 Bilateral Cleft Palate 21+2 747.5 Single Umbilical Artery 1 Fetal Size Corresponds to Dates 2 744.88 Small Bilateral Nuchal Edema i Normal Gestation 228.1 Massive Cystic Hygroma 778.0 Severe Fetal Hydrops 18+ 1 761.2 Severe Oligohydramnios 18+1 746.7 L Cardiac Ventricle Hypoplasia 23 + 5 762.8 Areas of Seperated Chorion 23 + 5 753.8 Bladder Normal 764 9 IUGR 23 + 5 753.01 L Kidney Cannot Be Positively Identified 23 + 5 751.5 Grade II Echogenic Bowel 753.2 Mild Bilateral Pefviectasis 18 + 3 746.88 Pericardial Effusions 18 + 3 511.9 Pleural Effusions 18 + 3 Femur Foot Ratio Abnormality 18 + 3 755.38 Hypoplastic Femur 18 + 3 228.1 Cystic Hygroma 742.42 Small Bilateral Choroid Plexus Cysts 15 + 2 Marked Skin Edema 15 + 2 Pleural Effusions 15 + 2 778.0 Ascites 15 + 2 747.5 Possible 2 Vessel Cord 15 + 2 778.0 Hydropic Fetus 778.0 Head Ascites 778.0 Throax Ascites 511.9 Echogenic Bowel 551.9 R Pleural Effusion 15 778.0 Generalized Hydropic Fetus 15 Abdomen Ascites 16 + 5 741.01 Arnold-Chiari Type II Malformation 16 + 5 ' 741,01 Small Cystic Meningomyelocele 16 + 5 754,73 Bilateral Club Feet 16 + 5 749.21 Suspected Bilateral Cleft Lip 16 + 5 749.21 Suspected Bilateral Cleft Palate 17 + 5 753.16 Multicystic Echogenic Kidneys 17 + 5 761.2 Severe Oligohydramnios 17 + 5 753.38 Bilateral Renal Enlargement 12 + 5 Single Live Fetus Size Appropriate for Dates 12 + 5 Nuchal memb. seen which extends from the occiput to the lower thoracic area over the dorsum of the fetus 12 + 5 It Contains Fluid & Extends at Least 2 mm from the Dorsum of the Fetal Neck 12 + 5 It Represents a Manifestation of the Jugular Lymphatic Obstruction Sequence 15 Shared Bowel 15 Abdominal Cyst 15 Club Feet 15 Multiple Ascites in Umbilical Cord 15 Shared Liver 15 Conjoined Twins (Omphalogus) 20 779 9 Fetal Demise 20 778 5 Soft Tissue Edema 19 + 5 759.89 Brachic-Oto-Renal Syndrome 19 + 5 753.00 Fetal Kidneys can not be Identified 19 + 5 753.6 Fetal Bladder Could Not Be Identified 22 753 00 Possible Renal Aplasia 22 753.16 Possible Multicystic Dysplastic Kidney Appendix II Ultrasound Findings 142 EGA EGA Amniotic Method Narrow Diagnosis: Dates U/S Fluid of TA Code: 761.2 Severe Oligohydramnios 754.03 Dolichocephaly 228.1 Cystic Hygroma 12 778 o Fetal Hydrops 12 779.9 Intrauterine Fetal Demise 19 + 6 754.3 Bilateral Club Feet 19 + 6 750 7/753 Stomach and Bladder Were Not Seen 19 + 6 742.39 Ventriculomegaly (Lateral Ventricles Only) 19 + 6 553.1 Small Omphalocele 19 + 6 755 50 No Definate Ploydactyly although 5th Fingers Look Curved 19 + 6 No Sign of Encephalocele or Dysraphism 19 + 6 753.16 Both Kidneys are Present & Are Enlarged and Echogenic with Microcysts and Some Larger Cysts 19 + 6 744 88 Nuchal Thickening - 7 mm Moderate Ascites Pericardial Effusion Moderate Cardiomegaly 18 + No structural cardiac matfns are present 18 + Fetal SmaU Bowel is Echogenic DDx includes anemia (a-thalassemia), infection or aneuploidy Generalized Hydrops is Present with ... Fetal Size Agrees with Dates Fetal Size Corresponds to Dates 15+1/2 Large Cystic Hygroma 15+1/2 Generalized Hydrops 15+1/2 Abnormal Heart Posterior Wall Heterogenous Mass, (Myoma) Normal Gestation 753.69 Urethral Dilatation 753.22 Megacystis 753.20 Bilateral Hydronephrosis 22 754.62 Decreased Truncal Circumference 22 753.88 Possible Diverticulum of Bladder 20 + 2 741.01 Posterior Lumbar Meningomyelocele 20 + 2 74t 01 Arnold Chlari Malformation 20 + 2 74101 Ventriculomegaly Normal Gestation Normal Gestation 17 + 6 Mild Lateral Ventricular Dilation 17 + 6 Cystic Hygroma 17 + 6 Generalized Fetal Hydrops 17 + 6 Bilateral Pleural Effusions 17 + 6 Abdominal Ascites 759.89 Caudal Regression Syndrome Variant 755.38 Truncated Lower Limbs 755 48 Truncated L Upper Limb 17 + 3 753.00 Abnormal Renal Structures 17 + 3 756.71 Small Gastroschisis 17 + 3 755.51 Hand Clubbing 17 + 3 756.18 Spine Ends Blindly 17 + 3 759 89 Suggestive of Limb-Body-Wall Complex 16 + 2 15 Genetic Amniocentesis 16 + 2 15 Ultrasound Size Compatible with Previous Ultrasound 17 + 4 Short Femur Length 17 + 4 Cystic Hygroma 17 + 4 Skin Edema 17 + 4 Pleural Effusion 17 + 4 Persistent Flexion of Legs 17 + 5 742 48 Multiple Bilateral Choroid Plexus Cysts (largest 11mm) 17 + 5 742 08 Large Encephalocele at the vertex with lemon shaped" frontal bones 17 + 5 750.28 Wide mouth with lateral extension of the corners of the mouth 17 + 5 Extremities not well seen, 4 digits seen on R hand, L hand not well seen 17 + 5 743.67 Shallow orbits 17 + 5 Cervical Structure Seen, cervix long and closed Appendix II Ultrasound Findings Code EGA EGA Amniotic Method Narrow Diagnosis: No: Dates U/S Fluid of TA Code; 17 + 5 1 1 No Polydactyly 17 + 5 1 1 Fetal Size is consistent with menstral dates 17 + 5 1 1 Normal Amniotic Fluid Volume 17 + 5 1 1 755.07 Cranial Anomalies 17 + 5 1 1 No renal anomalies seen 17 + 5 1 1 749.29 ? Cleft lip +/- palate 17 + 5 1 1 742.23 Absence of the inferior vermus of the cerebellum with large cistema magna 17 + 5 1 1 748.10 Absence of nasal structures 17 + 5 1 1 Imp: Craniofacial Anom's, could be part of facio-auriculc-vertebral spect'm, incr. risk of aneuploidy 17 + 5 1 1 756.02 Marked Hypertelorism 17 + 5 1 1 Facial Anomalies 17 + 5 1 1 Male Genitalia 17 + 5 1 1 No omphalocele seen 17 + 5 1 1 755.61 Possible Rockerbottom Feet 44413 15 + 1 1 1 Amniocentesis Successful 15 + 1 1 1 Size Appropriate for Dating 44427 10+ 1 1 1 Fetal Size Corresponds to Dates 44452 18 1 2 Congenital Heart Abnormalities 18 1 2 745.63 A-V Septal Defect with a VSD & ASD Component 44474 15 + 6 1 2 Amniocentesis, Single Tap 44470 18 + 3 16 + 1 3 1 753.88 Small Bladder 18 + 3 16 + 1 3 1 753.00 Dysplastic Renal Tissue 18 + 3 16 + 1 3 1 753.01 R Kidney Not Identified 18 + 3 16 + 1 3 1 753,20 Severe L Hydronephrosis 18 + 3 16 + 1 3 1 761.2 Oligohydramnios, Moderate 18 + 3 16 + 1 3 1 746,88 Small Pericardial Effusion 18 + 3 16+ 1 3 1 228.1 Cystic Hygroma 18 + 3 16 + 1 3 1 778.5 Diffuse Skin Edema 44486 19 + 5 1 1 742,23 Abnormal Cerebellum 19 + 5 1 1 742.28 Absent Vermis 19 + 5 1 1 742.20 Cerebral Hemispheres Fused In Midline 19 + 5 1 1 Posterior Fossa Could Not Be Seen 19 + 5 1 1 742.39 Ventriculomegaly 19 + 5 1 1 4th Ventricle Could Not Be Seen 444SS 20 18 + 4 1 1 764,9 Fetal Growth <5%centile, IUGR 20 18 + 4 1 1 228.1 Cystic Hygroma 20 18 + 4 1 1 778,5 Diffuse Skin Edema 20 18 + 4 1 1 778.5 Ascites 20 18 + 4 1 1 511.9 Bilateral Pleural Effusions 20 18 + 4 1 1 746.7 L Heart Hypoplasia 44489 15 1 1 Uneventful Single Tap Amnio 44495 18 + 3 1 1 741.01 Irvfrac renal/Cranial Findings Consist, c Chiari II Mali. Concave Frontal Bones. Cerebelum Deformity & Obbterated Cistema Magna 18 + 3 1 1 Leg. Movement is Present and the Feet Are Not Clubbed 18 + 3 1 1 742.39 No Ventricular Dilation Today 18 + 3 1 1 Fetal Size Consistent with Menstral Dates 18 + 3 1 1 741.01 Spinal dysraphism from L2 to S2 Levels (approx), defect appears open posteriorly no cystic structure seen 44499 21 17 + 1 1 1 742.02 Anencephaly 21 17 + 1 1 1 By Femur Measurement, Gest Age is 17 +/-1 wk 44606 24 + 6 1 2 749,1 No Cleft Lip Seen 24 + 6 1 2 Trunk and Femur Growth are appropriate for menstral dates 24 + 6 1 2 742.1 Head is approx. 22 wks size 24 + 6 1 2 742.26 Alobar Holoprosencephaly - some division of choroid plexus posteriorly, Ball Type 24 + 6 1 2 756.08 Facial Anomaly, Hypotelorism 24 + 6 1 2 743,63 Prominent Eyelids 24 + 6 1 2 744.91 Hypoplastic Midface 24 + 6 1 2 741,01 Abnormal Posterior Fossa - 'banana cerebellum" suggestive of Amold-Chiari Malformation 24 + 6 1 2 741.01 Possible Sacral Dysraphism although soft tissues not well seen due to breech position 24 + 6 1 2 758.10 Imp: Alobar Holoprosencephaly, Facial Anomalies & Possible Sacral Meningocele, Microcephaly 24 + 6 1 2 758.10 Imp: High Risk of Chromosomal Anomaly (trisomy 13) 24 + 6 1 2 748.18 Single Nostril 44622 11+3 1 1 744,88 Fetal Nuchal Translucency Thickening 44635 13 12 t 4 764,9 IUGR 13 12 1 4 778.5 Diffuse Subcutaneous Edema 44638 20 + 3 1 2 756.61 Left Sided Diaphragmatic Hemia, Stomach & Bowel in Thorax, Heart Displaced into Hemithorax 44642 Appendix II Ultrasound Findings 144 EGA EGA Amniotic Method Narrow Diagnosis: Dates U/S Fhjjd of TA Code: 744.ee Large Soft Tissue Mass Against Neck 779 9 Intrauterine Demise 761.2 Moderate Oligohydramnios 29 • 1 778 o Fetal Hydrops 29 • 1 7780 Ascites 29*1 746 88 Pericardial Effusions 29*1 5119 Bilateral Pleural Effusions 19*2 Kidneys Difficult to See 19 + 2 Nuchal Edema 19 * 2 Severe Oligohydramnios 19 + 2 Bladder Not Seen 19 + 2 Suggestive of VATER Association 19 + 2 746 88 Small Percardial Effusion 19 + 2 750.7 Small Stomach 19 + 2 Possible Hemivertebrae 19 + 2 754.20 Mild Lumbar Scoliosis 19 + 2 754.73 L Clubbed Foot 19 + 2 Suggestive of VACTERYL 18 + 4 No Other Fetal Anomalies Seen Today 18 + 4 777 6 Bright echogenic foci seen outside stomach & some small bowel loops suggest mecon. peritonitis 18 + 4 756,71 And wall defect seen to nghtside of umbikcal cord inserfn, with bowel loops in the amn fluid consist with gastroschisis 18 + 4 Fetal Size is Consistent with Menstral Dates 19 + 5 742 42 Bilateral Choroid Plexus Cysts 19 + 5 746 88 L Ventricle Abnormality 19 + 5 746,6 Mitral Valve Abnormality 19 + 5 753 o Renal Defect 756.08 Lemon Sign 19 + 3 741,00 Ventriculomegaly 19 + 3 74100 Open Spine From T9 to Sacrum 742.48 Banana Sign 13 + 2 11+3 764.9 Mild IUGR, Head is smaller than expected (11+3 wks) 13 + 2 11+3 742.26 Alobar Holoprosencephaly 13 + 2 11+3 228 1 Large Cystic Hygroma 742.39 Isolated Ventriculomegaly 742.48 Dangling Choroid Plexus 17 + 4 755.51 Clenched Hands 17 + 4 74 2 4 2 Multiple Choroid Plexus Cysts 17 + 4 764 9 IUGR, <10%centile 8 + 5 762.8 Suggestive of Amnion Rupture Sequence 8 + 5 756 17 Sacral Spine Not Seen 21 8 + 5 744.ee Nuchal Edema 21 8 + 5 553 1 Abdominal Wad Defect Containing Ascites, Liver, Stomach, Gallbladder and Bowel 21 8 + 5 553 i Small Omphalocele 21 8 + 5 754 20 Lumbar Scoliosis 21 8 + 5 764 9 IUGR 21 8 + 5 747.5 Single Umbilical Artery 8 + 5 754.73 Club Feet 8 + 5 762.60 Short UmbiBcal Cord 21 8 + 5 759 89 Suggestive Limb Body Wall Defect 21 8 + 5 756 78 Suggestive of Cloacal Bladder Extrophy 21 8 + 5 754 B2 Thorax not well seen 21 8 + 5 759 89 Suggestive Body Stalk Anomaly 16 740.01/02 Fetal Carvarium is Absent (Anencephaly/Acrania) 16 756 51 Possible Diaphragmatic Hemia or other Abn. Structure in the L Chest 17 + 4 2 511.9 Pleural Effusions 17 + 4 1 2 747.5 2 Vessel Cord 17 + 4 1 2 778.0 Ascites 17 + 4 1 2 746.88 R Sided Dominance of Heart 17 + 4 i 2 778.0 Fetal Hydrops 17 + 4 ' 2 228.1 Cystic Hygroma 25 + 4 20 22 4 2 753.0 Difficult to visualize Kidneys 25 + 4 20 22 4 2 No Other Obvious Deformation 25 + 4 20 22 4 2 755,68 Positional Abnormality of Left Leg 25 + 4 20 22 4 2 753.01 ? Small Left Kidney Seen 25 + 4 20 22 4 2 761.2 Severe Oligohydramnios prior to amnio infusion 25 + 4 20 22 4 2 764.9 Asymmetric IUGR 25 + 4 20 22 4 2 764,9 All Parameters « 10%centt,e for Gest. Age 25 + 4 20 22 4 2 764,9 Fetal head & femur measure at the mean for 22 wks while the Abd. Appendix II Ultrasound Findings 145 Code EGA EGA Amniotic Method Narrow Diagnosis: No: Dates U/S Fluid ol TA Code: 25 + 4 20-22 4 2 747.5 2 Vessel Cord 44859 14 + 5 1 2 Amniocentesis for Genetic Confirmation 14 + 5 1 2 740.02 Anencephaly 44S61 17 + 2 1 2 742.39 Bilateral Moderate Ventriculomegaly 17 + 2 1 2 Major Cardiac Anomaly 17 + 2 1 2 745.4 Interventricular Septum Not Seen 17 + 2 1 2 228.1 Cystic Hygroma 17 + 2 1 2 778.0 Fetal Hydrops 17 + 2 1 2 746.88 Pericardial Effusion 17 + 2 1 2 747.5 2 Vessel Cord 44670 19 17-18+1 wk 1 2 758.69 Imp: Lethal Anomaly (Probably Turners Synd.) 19 17-18+1 wk 1 2 778 0 Fetal Hydrops 19 17-18+1 wk 1 2 778.5 Major Skin Edema 19 17-18+1 wk 1 2 746 88 L Ventricle of Fetal Heart Appears Slightly Smaller 19 17-18+1 wk 1 2 511 9 Pleural Effusions 19 17-18+1 wk 1 2 228.1 Cystic Hygroma 44SB7 18 + 6 2 1 749.29 Possible Cleft Palate 18 + 6 2 1 754.73 Bilateral Club Feet 18 + 6 2 1 755.68 Abnormal Leg Position 18 + 6 2 1 756.61 Possible Diaphragm Defect 18 + 6 2 1 756.08 Head Not Well Seen 18 + 6 2 1 753.0 Kidneys Not Well Seen 18 + 6 2 1 745.49 Possible VSD 18 + 6 2 1 745.59 Possible ASD 18 + 6 2 1 746.6 Dysplastic Mitral Valve 18 + 6 2 1 747 5 Single Umbilical Artery 18 + 6 2 1 749.29 Possible Cleft Lip 18 + 6 2 1 Fetal Growth does not correspond to dates 18 + 6 2 1 761.2 Mild Oligohydramnios 44893 20 + 3 18 + 3 3 2 764.9 Asymmetrical IUGR 20 + 3 18 + 3 3 2 No Fetal Anomalies Seen 20 + 3 18 + 3 3 2 764.9 Moderate IUGR 45003 10 1 1 Fetal Size Corresponds with Dates 45011 24 + 6 1 1 742.39 Bilateral Ventriculomegaly 24 + 6 1 1 756 79 Abdominal Wall Defect with Eviscerated Heart & Thoracic Components 24 + 6 1 1 754.20 Extreme Scoliosis 24 + 6 1 1 759 89 Suggestive of Limb Body Wall Defect 24 + 6 1 1 742.23 Absent Cerebellum 24 + 6 1 1 742 39 Enlarged 3rd Ventricle 45028 12 + 6 11+4 1 1 778.0 Hydrops 12 + 6 11+4 1 1 228.1 Extensive Cystic Hygroma Invorving Head, Neck, & Throax 12 + 6 11+4 1 1 Suggestive of Aneuploidy 12 + 6 11+4 1 1 EGA Not Consistent With Dates 45035 17 + 2 1 740 02 Carvarium is Absent 17 + 2 1 2 740.1 Craniorachischisis 17 + 2 1 740.02 Anencephaly 45054 15 + 6 1 1 Fetal Size Corresponds With Dates 45059 18 + 5 18 + 1 wk 4 1 761 2 Severe Oligohydramnios 18 + 5 18 + 1 wk 4 1 754 9 Fetal Size at 10%centile 18 + 5 18 + 1 wk 4 1 754.73 Bilateral Club Feet 18 + 5 18 + 1 wk 4 1 761.1 Ongoing Rupture of Membranes 18 + 5 18+ 1 wk 4 1 778.5 Edema of Wali of Throax 45060 15 + 3 1 1 741.01 NTD, Lower Thoracic 15 + 3 1 1 756 18 Suggestive Hemivertebrae 15 + 3 1 1 741.01 Chiari II Malformation 15 + 3 1 1 756.12 Kyphoscoliosis 45075 13 + 2 1 1 744.88 Nuchal Translucency (5-6mm) 45084 17 + 6 1 1 740.0 Fetal Cranium is Absent but Brain is Present 17 + 6 1 1 750.7 Stomach Not Seen 45210 17 + 3 3 2 751.5 Increased Echogenic Bowel 17 + 3 3 2 753.01 L Kidney Not Well Seen 17 + 3 3 2 745.63 AV Septum Defect 17 + 3 3 2 756.08 Head Measurements Are Smaller Than Expected (15 + 2 wks) 17 + 3 3 2 751 5 Suggestive Bowel Calcifications Appendix II Ultrasound Findings 146 Code EGA EGA Amniotic Method Narrow Diagnosis: NO; Dates U/S Fluid o(TA Code: l7T3 761.2 Moderate Oligohydramnios 17 + 3 753.0 R Kidney Echogenic 17 + 5 742.39 Mild Ventriculomegaly 17 + 5 761.2 Severe Oligohydramnios 17 + 5 754.73 Bilateral Club Feet 17 + 2 Single Live Fetus 17 + 2 An asymmetric encephalocele is noted 17 + 2 Difficult to assess fetal anatomy due to decreased AFV 17 + 2 A fluid filled structure is identified posterior to the heart - may be the trachea suggesting a possible TEF 17 + 2 Spine and Face could not be adequately assessed 17 + 2 Severe Oligohydramnios Successful Transcervical CVS Fetal Size Corresponds with Menstral Dates 18 + 3 Abdominal Calcifications 18 + 3 Abdominal Mass Seen in Lower Abdomen 759.89 Suggestive of C.F. 751.58 Suggestive of Bowel Loop 15+4 742.48 Cystic Structure Arising From Brainstem and Located in Posterior Midline 15+4 742.48 Abn Brain Development 15+ 4 742 48 No Midline Structures Seen 15+ 4 742.48 No Brain Tissue Above Brainstem/Cerebellum 15+ 4 753.8 Fetal Bladder Not Seen 15+4 756.08 Large Forehead 15+4 743.67 Flattened Orbits 15+4 748.18 Flattened Nose 15+4 746.80 Dextrocardia 15+4 747.5 2 Vessel Umbilical Cord 15+4 742.32 Possibly Hydranencephaly 15+4 742.26 Possibly Holoprosencephaly Outflow Tracts appear Normal 31+5 761.3 Polyhydramnios 31+5 750.7 Small Stomach Visualized 31+5 764 9 IUGR 34 31+5 755.51 Clenched R Hand 34 31+5 755.51 Clubbed L Hand 31+5 757.7 Annexal Mass Compatible with Dermal Cyst 34 31+5 Both Ventricles are Normal 34 31+5 745.68 Partial AV Canal Defect 31+5 750.38 Imp: Tentative Diagnosis of Esophageal Atresia or Tracheoesphageal fistula 745.49 Ventricular Septal Defect Appendix III Autopsy Findings 147 Method Amniotic EGA at Narrow Diagnosis: of TA Fluid Termination Code: 228.1 Imp: U/S detected Cystic Hygroma No Developmental Abnormalities in Intact Parts 756.08 Unossified Cranial Vault 747.21 Preductal Aortic Hypoplasia 755.51 Abnormal Hand Position 758.20 Imp: Trisomy 18 Syndrome 755.50 Bilateral 5th Finger Clinodactyly 757.2 Bilateral Simian Crease 758 00 Imp: Down's Syndrome 754 o Frontal Parietal & Occipital Skin and Skull Defect 742 28 Absence of Superior Sagittal Sinus 742.48 Neuronal Migration Disorder, Diffuse - Cerebral Hemispheres Imp: Multifactorial NTD & Congenital Cardiac Abnormalities 744.11 Bilateral Preauricular Tags 741.90 Cervical Spinal Rachischisis 745.2 Tetralogy of Fallot 756.15 Thoracic Hemivertebrae 742.58 Absence of Dura 772.2 Subarachnoidal Hemorrhage 745.50 ? Heart Showing Fenestrated Foramen Ovale 746.88 ? Small Pericardial Effusion 778.0 Marked Ascites 511.9 Marked R Pleural Effusion 511.9 Moderate L Pleural Effusion 753.38 Marked Mineralization of Kidney 762.28 Marked Mineralization of Placenta 778.0 Marked Hydrops 758.00 Imp: Down's Syndrome - 47, XY, + 21 746.88 Blunting of L Lateral Ventricle 746.88 Abundant Valve Leaflets 759.24 Stress Involution of Thymus 751.01 Meckel's Diverticulum 779.89 Mild Maceration 746.88 Mild Asymmetry of Ventricles 755.50 Bilateral 5th Finger Clinodactyly 748.58 Hyperplastic Alveolar Ridges 750.18 Large Protruding Tongue 746.4 Asymmetric Aortic Valve 744.24 Low Set Ears 748.51 Severe Pulmonary Hypoplasia Scant Skeletal and Fetal Organs Identified 755 50 R hand 5th Finger Clinodactyly 758 74 Imp: 46, XX, -15, t(15q21q) = Robertsonian Translocation Trisomy 21 778.5 Edema Dorsa of Hands and Feet 758.60 Imp: Turner's Syndrome - 45, X 758 00 Imp: 47, XY, + 21/48, XY, + 21, + marker (mosacism) 755.50 Bilateral 5th Finger Clinodactyly No other developmental anomalies in parts available for examination 742.1 Microcephaly 762.2 Placenta - Ureaplasma Urealyticum 755.50 Bilateral 5th Finger Clinodactyly 743.1 Microphthalmia 756.61 Diaphragmatic Hernia, Left, Large, Bochdalek Type 757 90 Scalp Defect 749 21 Bilateral Cleft Lip 758 10 Imp: Trisomy 13 Syndrome 749.21 Bilateral Cleft Palate 758 58 Imp: 46, XX, - 21, + i(21q) No Developmental Anomalies in Intact Parts 9* 1/2 750.18 Protruding Tongue 9* 1/2 742' Microcephaly 9*1/2 IUD -3 + 1/2 weeks retention 9 * 1/2 747 38 Pulmonary Trunk Appears Hypoplastic 9* 1/2 749.06 Midline Cleft in the Soft Palate 9* 1/2 758.09 Imp: Mosaic 46, XY / 47, XY, + 21 Scant Internal Organs are Found Imp: Alpha Thalassemia, Hb Bart's Hydrops Fetalis Appendix III Autopsy Findings 148 Code Method Amniotic EGA at Narrow Diagnosis: No ofTA Fluid Termination Code. No Developmental Anomalies in Parts Available No Other Developmental Anomalies 758 58 Imp: Mosaic Ring 22 Syndrome - 46, XY / 46, XY, - 22, + r(22) 755.50 Bilateral 5th Finger Clinodactyly Scant Organs are Identifies 758.58 Imp: Unbalanced Translocation No Developmental Anomalies 746.7 Aortic Valve Atresia 746.7 Tubular Hypoplasia of Aortic Arch 746.1 Dysplastic Tricuspid Valve 746.7 Hypoplastic L Heart 746.7 Hypoplastic Mitral Valve 758.10 Imp: Trisomy 13 Syndrome 762.68 Umbilical Cord Cyst 746 88 Hypertrophic R Ventricle 755 oo Polydactyly of Both Hands 10* 6 No Developmental Anomalies in Intact Parts 10 + 6 758 oo Imp: Down's Syndrome - 47, XX, + 21 No Developmental Anomalies in the Intact Parts 758 58 Imp: Triploidy 746.88 Polyvalvular Dysplasia 755.51 Abnormal Hand Clenching 2nd and 5th overlapping 3rd and 4th fingers, Bialteral 758.20 Imp: Trisomy 18 Syndrome 12 + 5 758.00 Imp: Down's Syndrome 12 + 5 Embyro is not identified 12 + 5 762 28 Abnormal Villus Morphology in Placenta 754 73 L Club Foot 758.51 Pulmonary Hypoplasia 755.50 Bilateral Clinodactyly due to Hypoplasia of Mid-Phalanges 757.2 Bilateral Simian Crease 744.88 Posterior Neck 8 758.00 Imp: Down's Syndrome - 47, XX, + 21 771.1 Cytomegalovirus Infection, Viral Inclusions in Placenta & Fetal Tissues including Brain 18 + 2 742.39 Mild Hydrocephalus 18 + 2 771.1 Imp: Cytomegalovirus Infection 11 + 5 755.02 Polydactyly, Postaxial, Both Feet 11 + 5 755 00 Polydactyly, Postaxial, Both Hands 758 58 Imp: Unbalanced Reciprocal Translocation 747 19 Hypoplastic Aortic Arch 756.30 12 Ribs Right and 11 Ribs Left Side 751 78 Pancreatic Dysplasia 751.62 Congenital Hepatic Fibrosis with Ductal Plate Malformation 757 2 Bilateral Simian Creases 753.11 Bilateral Cystic Kidneys 748 18 Prominent Nose 16 + 1/2 758 09 Imp: Down's Syndrome (mosaic) 16 + 1/2 755.50 Bilateral Hypoplasia of Mid Phalanx, Fifth Finger No Developmental Abnormalities Are Found In The Intact Parts Imp: No Developmental Anomalies, FHx Tuberous Sclerosis 758.58 Triploidy Conceptus, 69, XXX (prenatal diagnosis & confirmatory tissue cultures) 758 58 Imp: Triploidy Scant Fetal Fragments None of the Internal Organs were Submitted for Examination 751 01 Meckel's Diverticulum No Other Developmental Anomalies 758.61 Imp: Mosaicism 45, X / 46, XY 744.88 ? Posterior Nuchal Edema 755.50 Bilateral 5th Finger Clinodactyly 758.00 Imp: Down's Syndrome 12+ 1/2 wks 758 oo Examination Confirms Prenatal Diagnosis of Trisomy 21 12+ 1/2 wks 758.00 Imp: Down's Syndrome - 47, XY, + 21 12 + 1/2 wks 758.00 Cytogenetically Identified as Trisomy 21 Appendix III Autopsy Findings 149 Code Method Amniotic EGA at Narrow Diagnosis: No: of TA Fluid Termination Code: 31134 2 1 18 744.88 ? Mild Posterior Nuchal Edema 2 1 18 748.58 Incomplete Lobation of Lung 2 1 18 748.51 Mild Pulmonary Hypoplasia 2 1 18 755.50 Bilateral 5th Finger Clinodactyly 2 1 18 778 5 Diffuse Subcutaneous Edema, Mild 2 1 18 756 08 Flattened Occiput 2 1 18 754.00 Flattened Nasal Bridge 2 1 18 748.18 Broad Nose 2 1 18 750.18 Mildly Protuberant Tongue 2 1 18 758.00 Imp: Down's Syndrome 31464 2 1 19 * 1/2 758.70 Imp: Klinefelter^ Syndrome - 47, XXY 2 1 19*1/2 No Other Developmental Anomalies 2 1 19 * 1/2 755.50 Bilateral 5th Finger Clinodactyly 31574 1 1 20 No Abnormalities are Identified in Intact Parts 1 1 20 758.29 Imp: Mosaic 46, XY / 47, XY, + i(18p) 31703 2 1 16 Imp: Multifactorial NTD 2 1 16 741 03 Thoracolumbosacral Meningomyelocele 2 1 16 756.18 Saggital L Vertebrae 2 1 16 756.18 Butterfly Vertebrae at Thoracolumbar Junction 2 1 16 741.03 Hydrocephalus 32236 1 1 15 • 1/2 758.58 Imp: Mosaic 47, XY, + 9 / 46, XY 1 1 15+1/2 No Developmental Anomalies in Parts Available 32491 2 1 22 759.18 Steatosis, Moderate, Fetal Zone, Adrenal Gland 2 1 22 778.0 Imp: Generalize Fetal Hydrops - Unknown Cause 2 1 22 778.0 Hydrops Fetalis 2 1 22 748.51 Pulmonary Hypoplasia 2 1 22 511.© Pleural Effusions 2 1 22 742.48 7 Subependymal Plate Hemorrhage, small, right, Brain 2 1 22 759 18 Microcystic Change, Cortex, Adrenal Gland 33222 1 1 12 + 1/2 Scant Fetal Tissue is Identified 1 1 12 + 1/2 758.58 Imp: 46XX, -13, +der(13), t(12;13) 33256 1 1 13 758.58 Chorion Confined mosacism for chr. 2 + 21 double trisomy. 1 1 13 747.19 Hypoplastic Aortic Arch 1 1 13 758.09 Imp: 47, XX, + 21/ 48, XX, + 2, + 21 confined to placenta 33297 2 1 16 * 2 742.48 Neuronal Migration Defect, Brain 2 1 16 + 2 751.62 Absent Peroxisomes, Liver 2 1 16 + 2 759.87 Imp: Zellweger Syndrome { Cerebrohepatorenal Syndrome ) 2 1 16 * 2 277.8 Reduced Sedimentable Catalase Activity 2 1 16 + 2 754.00 Broad Nasal Bridge 2 1 16 + 2 756.88 Vacular Degeneration, Cartilage Matrix, Focal 2 1 16 + 2 753.18 Renal Microcysts 33299 2 1 15+1/2 756.34 L Rib Anomalies 2 1 15+1/2 748.51 Small Lungs 2 1 15 * 1/2 751.49 Malrotation, Midgut 2 1 15+1/2 756 18 Segmentation Anomalies, Vertebral Bodies, Cervical, Thoracic, and Lumbar 2 1 15 + 1/2 754 20 Scoliosis, Left (Cervical) 2 1 15+1/2 754.73 Club Feet 2 1 15 + 1/2 754.22 Spinal Retroflexion (Cervical) 2 1 15*1/2 741.98 Cervicothoracic Rachschisis 2 1 15*1/2 740.02 Anenecephaly (Holo-Acrania) 2 1 15*1/2 Imp: Multifactorial NTD 2 1 15*1/2 759.11 Small Adrenals 33951 1 1 22 759.04 Accessory Spleen 1 1 22 758.58 46, XX,-13, + der(13), t(13;15) 1 1 22 740.02 Anencephaly 1 22 PND of Cleft Lip not confirmed due to Fragmentation 1 1 22 753 00 Dysplastic Kidneys 1 1 22 751.49 Malrotation of Small and Large Intestines 1 1 22 747.5 Single Umbilical Artery 34461 1 1 No Abnormalities are Found in Intact Parts 1 1 747.5 2 Vessel Cord 1 1 758.00 Imp: Down's Syndrome - 47, XY, + 21 3456S 4 2 13 * 6 758.58 Imp: Unbalanced Reciprocal Translocation, 46, XY, - 9, der(9), t(6:9)(q25;p24)pat 4 2 13 + 6 746.4 Bicuspid Aortic Valve 4 2 13 + 6 745.50 ? Slit-like Foramen Ovale 4 2 13 + 6 754.73 Bilateral Club Feet Appendix III Autopsy Findings Coda Method Amniotic EGA at Narrow Diagnosis: No: o(TA Fluid Termination Code: 747 41 Persistent L Superior Vena Cava 746.1 ? Dysplastic Tricuspid Valve 747.32 Subpulmonic Stenosis 741.90 Rachischisis, Thoracolumbar Imp: Multifactorial NTD 758.00 Imp: Down's Syndrome - 47, XY, + 21 No Developmental Anomalies in Intact Parts 755.50 Bilateral 5th Finger Clinodactyly 758.58 Imp: Pallister-Killian (tetrasomy 12p mosaic) Syndrome PND of Sacral Agenesis Not Confirmed Due To Fragmentation No Developmental Anomalies in Parts Available Thoracolumbar Rachischisis Imp: Multifactorial NTD Large Bilateral Cystic Nuchal Hygroma Hypoplastic Aortic Arch IUD - retention ??, less than 1 week 778.5 Edema of Dorsum of Hands and Feet 751.01 Small Meckel's Diverticulum 758.00 Imp: Down's Syndrome - 47, XX, + 21 16 • 1/2 748.58 Two Lobed R Lung 16 • 1/2 754.73 R Club Foot 16 * 1/2 No Nuchal Webbing was Demonstrated 16 * 1/2 Imp: U/S Identified Nuchal Thickening 16 * 1/2 No Other Dev. Anomalies 756.30 11 ribs 742.28 Absence of Olfactory Bulbs and Tracts 759.21 Cystic Changes of Thyroid 17 * 1/2 751.78 Heterotopic Pancratic Tissue 17 * 1/2 758.10 Imp: Trisomy 13 Syndrome - 47, XY,+ 1: 17 * 1/2 753.01 Meckel's Diverticulum 17 * 1/2 753.88 Distended Urinary Bladder 17 * 1/2 748.58 Incomplete Lung Flssuring 17* 1/2 746.00 Pulmonary Atresia 17 * 1/2 749.20 Cleft Lip, Left 17 * 1/2 752.86 Micropenis 17 * 1/2 749.20 Cleft Palate, Left 17 • 1/2 751 49 Malrotation of Intestines 17 • 1/2 747 5 Single Umbilical Artery 17 * 1/2 745.20 Tetralogy of Fallot 17 * 1/2 74741 Persistent L Superior Vena Cava 17 • 1/2 746.88 Polyvatvular Nodular Dysplasia 17 * 1/2 747.26 Overriding Aorta 17 + 1/2 745.49 Ventricular Septal Defect 17 * 1/2 753 69 Urethral Meatal Stenosis and Forking 8- 19 wks Bilateral Cleft Palate 8- 19 Wks PND of Dandy Walker Malformation Not Confirmed Due to Fragmentation PND of Hydrocephalus Not Confirmed Due To Fragmentation Bilateral Cleft Lip Arnold-Chiari (Chiari Type II) Malformation Hydrocephalus Lumbosacral Meningomyelocele Imp: Multifactorial NTD 751.58 Abnormal Cloacal Partitioning (blind ending colon) 752.88 Ambiguous Genitalia 511.9 Bilateral Pleural Effusion 762.8 Amnion Nodosum 761.2 Oligohydramnios Sequence 751.24 Anal Atresia Urethral Stenosis Imp: Urorectal Septal Malformation Sequence (aka Cloaca! Dysgenesis Sequence) Pulmonary Hypoplasia 742 48 Cerebellar Herniation 74! 08 Arnold Chiari Type II Malformation 741 08 Lumbosacral Open Neural Tube 742 48 Elongation & Flattening of the Brainstem Imp: Multifactorial NTD 742 54 Hydromyelia Appendix III Autopsy Findings Code Method Amniotic EGA at Narrow Diagnosis: No: ofTA Fluid Termination Code: 742.48 Midbrain Tectal Beaking 742.48 Small Posterior Fossa 753.16 Bilateral Cystic Renal Dysplasia 742.26 Alobar Holoprosencephaly Hypotelorism 748.18 Single Nostril 752.48 Absent External Genitalia Urethral Atresia 751.24 Anal Atresia 747.5 Single Umbilcial Artery Conjoined Urinary Bladder and Uterus 751.21 Colon Ends Blindly 762.28 Some Villus Dysmaturity Amnium Nodosum, Placenta Imp: Holoprosencephaly & Cloacal Dysgenesis 746.4 Dysplastic Bicuspid Aortic Valve 746.88 Polyvalvular Dysplasia 754.50 Bilateral Equinovarus, Feet 753.99 Persistent Paramesonephric Ducts 742 48 Bilateral Choroid Plexus Cysts 758.20 a Imp: Trisomy 18 Syndrome & Persistent Paramesonephric Duct 755.51 Abnormal Hand Positioning, 2&5 digits overlapping 3&4 digits 758.20 Imp: Trisomy 18 Syndrome - 47, XY, + 18 762.8 Immature Chorionic Villi Showing Basement Membrane Mineralization 751.62 Focal Areas of Calcification in Liver 751.01 Meckel's Diverticulum 755.50 L Hand, Clinodactyly of 5th Finger 755.01 R Hand with Thumb Tag 752.86 Penis Urethral Groove Has Not Fused 746.09 Bicuspid Dysplastic Pulmonary Valve 746.4 Bicuspid Dysplastic Aortic Vatve 745.49 VSD, Perimembranous 746.88 Polyvalvular Dysplasia 748.51 Mild Pulmonary Hypoplasia 755.50 Bilateral 5th Finger Clinodactyly 755.51 Abn Hand Positioning with 2nd & 5th Fingers Overlapping 3rd & 4th 758,20 Imp: Trisomy 18 Syndrome - 47, XX, + 18 755.38 Tibial Hypoplasia - L Leg 755 24 ? Distal Amputations Hands 747.5 Single Umbilical Arteries 755.19 4 - 5 Syndactyly R Hand 755.38 Tibial Aplasia - R Leg 759.89 Imp: Tibial Aplasia/Hypoplasia or Tibial Aplasia/Hypoplasia & Ectrodactyly 755.19 2 - 5 Syndactyly L Hand PND of Anencephaly not confirmed due to fragmentation Imp: Multifactorial NTD No Abnormalities are found in the intact parts 758.00 Imp: Down's Syndrome - 47, XY, + 21 755.50 Bilateral Clinodactyly of Fifth Fingers 745.63 Partial AV Canal Defect 761.2 Potters Fades, Oligohydramnios Effect 742.28 Absent Olfactory Bulbs 753 16 Bilateral Multicystic Dysplastic Kidneys 748.51 Pulmonary Hypoplasia 753.16 Imp: Multicystic Dysplastic Kidneys Imp: Multifactorial NTD 741,90 Rachischisis, Thoracic 740,02 Anencephaly 755,50 Bilateral 5th Finger Clinodactyly 757.2 L Simian Crease 751.01 Meckels Diverticulum Imp: Variation in Normal Phenotype Couple Terminated because of increased AFP 747.5 Single Umbilical Artery PND of Arnold Chiari Malformation not confirmed due to fragmentation 741.01 Lumbar Meningomyelocele 754,73 Bilateral Clubfoot 755.51 Overlapping Fingers Appendix III Autopsy Findings 152 Cods Method Amniotic EGA at Narrow Diagnosis: No: of TA Fluid Termination Codo: Imp: Multifactorial NTD 762.8 Imp: Amniotic Band Syndrome 755.24 Distal Amputation, Digits 3-5, Left Hand, Amniotic Bands 755.19 Syndactyly of 2-5 toes, Bilateral 749.29 Bilateral Cleft Lip 749.29 Bilateral Cleft Palate ? Atypical PND of Acrania Not Confirmed Imp: Multifactorial NTD 742.58 Thoracocervical Subarachnoid Cyst Compressing Spinal Cord 74 1 98 Lumbosacral Meningomyelocele 747.5 Single Umbilical Cord 753.00 Renal Agenesis, L 753.16 Multicystic Renal Dysplasia, R 753 88 Rudimentary Urinary Bladder 748.51 Pulmonary Hypoplasia 752.38 Rudimentary Uterus 759.18 Gonadal Rest, L Adrenal Gland 752.10 Absent R Fallopian Tube 762.60 Short Umbilical Cord 753.20 L Hydronephrosis - Mild 757.8 Pterygia at Axillae and Knees 755.51 Bilateral Finger Overlapping 748.18 Broad Nose 759.89 Imp: Pena Shokeir Syndrome 750.18 Protuberant Tongue 754.78 Plantar Flexion, R Foot '754.78 Dorsiflexion, L Foot 754.88 Abn Limb Positioning 754.00 Prominent Forehead 744.88 Shortened Neck 756.08 Head is Enlarged and With A Shape Suggestive of Cloverieaf Skull 755.88 Widened Trabeculae 755 88 Marked Shortening of Long Bones Marked Bowing of Long Bones Pulmonary Hypoplasia Widening of Long Bone Metaphyses Neuronal Heterotopias 742.28 Failure of Proper Formation of the Hippocampus 755.88 Disorganization of Endochondral Growth Plate No Developmental Anomalies in Intact Parts 758.10 Imp: Trisomy 13 Syndrome - 47, XY, + 13 745.49 Ventricular Septal Defect 745.11 Double Outlet R Ventricle 746 oo Absent Pulmonary Valve with Absent Ductus Arteriosus 75500 Hexadactyly 749 21 Bilateral Cleft Lip 749 21 Bilateral Cleft Palate 747.5 Single Umbilical Artery 758.10 Imp: Trisomy 13 Syndrome - 47, XY, + 13 228.1 Cystic Hygroma 758.60 Imp: Turner's Syndrome - 45, X 747.5 2 - Vessel Cord 778.0 Severe Hydrops 747.10 Preductal Coarctation of Aorta, Bicuspid Aorta 748.51 Pulmonary Hypoplasia 762 28 Villus Edema, Placenta 778.5 Marked Dorsal Edema, hands and feet 753 is Multiple Simple (hydronephrotic) L Renal Cyst 757 2 R Simian Crease 755.51 Overlapping Fingers, Bilaterally 759.21 Cystic Dysplasia of Thyroid 524.0 Micrognathia 751.68 Generalized Intrahepatic Bile Stasis, Probably Secondary to Extrahepatic Biliary Obs 742.88 Germinal Eminence Hemorrhage, unruptured, R 746 6 Polyvalvular Dysplasia with Atresia and Stenosis of Mitral Valve 753.41 Duplication of L Ureter and L Collecting System 762.28 Mild Focal Edema of Chorionic Villi with Hypermature Villi 751.72 Near Complete Annular Pancreas 758.20 Imp: Trisomy 18 Syndrome 756 61 Massive L Diaphragmatic Hernia with absence of L Hemidiaphragm with residual L diaphragmatic band ix III Autopsy Findings Code Method Amniotic EGA at Narrow Diagnosis: No: of TA Fluid Termination Code: 756.61 Diaphragmatic Hernia with herniation of small bowel, L Lobe of Liver, & Stomach in to L chest cavity 759.08 Splenic Lobation 756.61 Diaphragmatic Hernia with Heart, Mediastinal Displacement into R Chest Cavity 751.49 Mobile Proximal Small Bowel, Caecum and Sigmoid 745.48 Perimembranous VSD 746.88 Hypoplastic L Ventricle 747.21 Severe Tubular Hypoplasia of Aortic Isthmus with Preductal Coarctation 747.41 Persistent L Superior Vena Cava 748 58 Incomplete Lobation of Lungs, Bilaterally 751 01 Meckel's Diverticulum 751.73 Ectopic Pancreas 748.61 Bilateral Pulmonary Hypoplasia i 745.4B VSD, muscular i 746 4 Dysplastic Bicuspid Aortic Valve t 746 88 Mild Polyvalvular Dysplasia t 744.88 ? Mild Nuchal Swelling i 747 19 Mild Hypoplasia and Coarctation of Aortic Arch i 758 20 Imp: Trisomy 18 Syndrome - 47, XY, + 18 i 749.19 Cleft Lip i 755.51 Abn Hand Positioning - Camptodactyly I 751.01 Meckel's Diverticulum I 753.32 Horseshoe Kidney Imp: Mosaic 46, XX, del(18)(p11) / 46, XX, i18q) No Abnormalities in Intact Parts 742 39 Hydrocephalus - Enlarged Head (90th Percentile) 764.9 Mild Intrauterine Growth Retardation 759.82 Imp: Smith-Lemi-Opitz (Type II) 749.06 Cleft Palate, Midline 524.0 Small Mandible 748.18 Upturned Nose with Small Nares and Choanae 750.11 Abbreviated Tongue 744.24 Low set ears with shallow auditory canals 756.02 Hypertelorism Excess Scalp Tissue, Occiput Meconium igmentation, Placental membranes 764.9 Small for Gestational Age (22 wks) 750.28 Prominent Gingival Ridges 756.17 Segmentation Defects and Fused Vertebrae, Sacrum and absent Pedicles 744.91 Craniofacial Dysmorphism 752.81 Dysplastic abdominal testes 747.5 Single Umbilical Artery 751.78 Hyperplasia , Islets of Langerhan's, Pancreas 751.49 Malrotation of Intestine 748.58 Dysplastic Pulmonary Parenchyma 748.69 Bilateral Unilobated Lungs 748.51 Hypoplasia of Lungs 755.19 Syndactyly 2-3,and 5-6, Feet 755.09 Hexadadyly, Postaxial Hands 8i Feet 743.8 Cataracts and Optic Nerve Hypoplasia, Eyes 753.00 Oligohydramnios Sequence 753.00 Agenesis of Kidneys and Uterus, Bilateral 755.60 Digitalized Thumbs & Great Toes 752.71 Male Pseudohermaphroditism - external femal genitalia with absent uterus and fallopian tubes 751.11 Jejunal Atresia 756.71 Right Sided Gastroschisis 754 so Bilateral Talipes Equinovarus 751.20 Colonic Atresia 26 (dates). 20 (G.P.) Mild Chorioamnionitis 26 (dales). 20 (G.P.) Cystic Hygroma 26 (dates), 20 (G.P.) Imp: Features Consistent With Turners Syndrome 26 (dates), 20 (G.P.) Retention for 6 wks ? 26 (dates), 20 (G.P.) Generalized Edema, Dorsum of Feet, Thigh & Arm 19 + 1/2 758 82 lmp:46,XY/47,XXY Mosaic 19 * 1/2 No Developmental Anomalies 19 * 1/2 Depressed Nasal Bridge 19 + 1/2 Tissue Consistent With Origin From an Omphalocele 19 • 1/2 Adrenal Cortical Rest 19 * 1/2 744.28 Ears are Thickwalled with Folded Lobes 19 • 1/2 759.04 Accessory Spleen 742.39 Hydrocephalus Appendix III Autopsy Findings 154 Method Amniotic EGA at Narrow Diagnosis: of TA Fkid Termi nation Code: 747.5 Single Umbilical Artery 742.88 Absent Olfactory Nerves PND of Cystic Hygroma Not Confirmed Due to Fragmentation VSD, Peri membranous, Large 12 + 1/2 Imp: Trisomy 18 Syndrome - 47, XX, + 18 12 + 1/2 Polyvalvular Dysplasia , TV, PV, MV, AV 742.48 Dysgenesis of Olivary Nucleus 753.32 Crossed Renal Ectopia with Fusion 747.5 2 Vessel Umbilical Cord 762.80 Small Placenta with Short Umbilical Cord 759.11 Hypoplastic Adrenal Glands 745 63 Complete Atrioventricular Septal Defect 758,58 Imp: Triploidy - 69, XXX 755.19 Syndactyly of 3rd & 4th Digits of R Hand 744.24 Low Set Ears 749.20 L Cleft Palate 749.20 L Cleft Lip 524.0 Micrognathia 756.02 Hypertelorism 747 41 Persistent L Superior Vena Cava 740.02 Anencephaly 748.51 Small Lungs 755.50 Bilateral 5th Finger Clinodactyly 741.90 Cervical Rachischisis Imp: Multifactorial NTD 745,63 AV Canal Defect, Complete 745 58 ASD, Large, Common Atrium 747.28 Subaortic Stenosis, Moderate 75802 Imp: Translocation Down's Syndrome - 46, XY, - 13, + der(13), t(13;21) No Other Developmental Anomalies 742 39 Hydrocephalus 748.51 Pulmonary Hypoplasia 753.88 ? Megacystis 759.7 Unknown etiology of Limb Hypoplasis ? Oligohydramnios Seq. or Vascular Obstruction 762.20 Placenta with Focal Infarction 742.88 Germinal Eminence Hemorrhage 755.38 Hypoplastic L Lower Limb 744.28 ? Infraorbital Lobes 744 24 Low Set Ears 761 2 Oligohydramnios Sequence 753,00 Bilateral Renal Dysplasia 752 84 Absence of Prostate Gland 753,22 Megaureter 524,0 Micrognathia 752.51 Undescended Testes 754.78 Abn L Foot with Single Toe 744.24 Low Set Ears 762.28 Partial Placenta Circumvatlate 749.03 Cleft Palate, Posterior 748,51 Small Lungs 756.62 Mild Eventration of L Hemidiaphragm r? Ependymitis 742 38 Stenosis of Aqueduct 772 1 Old Intraventricular Hemorrhage 755.30 Limb Reduction Anomaly (lower Limbs) 755.50 Digitalization of Thumb L Hand 755,19 Syndactyly of Digits 1-3 L Hand 742.48 Abnormal Cerebellar Leptomeninges (pia) 742.88 Absence of Olfactory Nerves 755,32 •? Absent Fibula, L Leg 755.32 ? Abn & Hypoplastic Tibia, L Leg 760.B Imp: Potential Teratogenic Insult at 6 wks Dev. / Mat. Bleeding Diathesis/ MCA 742.39 Mild Hydrocephalus 742.41 Absence of Corpus Catlosum + Cinguhim No Abnormalities in Intact Parts 758.61 Imp: CPM 45, X / 46, X, + marker 755.19 L Foot Syndactyly (2nd & 3rd Toes) 758.58 Imp: Triploidy 747,5 Single Umbilical Artery 759.11 Adrenal Hypoplasia Appendix III Autopsy Findings Method Amniotic EGA at Narrow Diagnosis: ot TA Fluid Termination Coda: 752.28 Small Placenta 746.4 Bicuspid Aortic Valve 764,9 Asymmetrical IUGR 748.51 Pulmonary Hypoplasia 755.19 R Hand Syndactyly (3rd & 4th Fingers) 748.58 Abn Lung Lobation 756.15 Butterfly Vertebrae, Thoracic Imp: Multifactorial NTD 741.08 Lumbosacral Meningomyelocele 741.08 Hydrocephalus 741.08 Thining of Cerebral Mantle 756.79 Protuberant Abdomen but No Omphalocele 746.1 Hypoplastic Dysplastic Tricuspid Valve 746 4 Dysplastic Bicuspid Aortic Valve 778.5 Mild Generalized Subcutaneous Edema 746.00 Pulmonary Atresia with Intact Ventricular Septum 746.68 Hypoplastic R Ventricle 755,88 Mild Shortening of Limbs - Distal And Proximal 755.50 Bilateral 5th Finger Clinodactyly 758.00 Imp: Down's Syndrome - 47, XX, + 21 13 * 1/2 No Developmental Anomalies in Intact Parts 13 + 1/2 PND of Cystic Hygroma Not Confirmed Due to Fragmentation 13 • 1/2 762.28 Immature Chorionic Villi Showing Mild Nonspecific Villus Edema 13* 1/2 753,38 A Few Dilated Lymphatic in the Kidney 778 o Imp: Fetal Hydrops No Other Developmental Abnormalities in Intact Parts 753.00 Bilateral Renal Agenesis 758.60 Imp: Turner's Syndrome - 45, X 778,0 Hydrops Fetalis Abdominal Ascites Coarctation of Aorta Cystic Hygroma 776.5 Diffuse Subcutaneous Edema 748.51 Pulmonary Hypoplasia Bilateral Pleural Effusions 17 * 1/2 744.24 Low-Set Ears 17 * 1/2 553.1 Omphalocele Containing Liver and Bowel 17 * 1/2 758.20 Imp: Trisomy 18 Syndrome - 47, XX, + 18 17 * 1/2 746 88 Polyvalvular Dysplasia 17 • 1/2 747.19 Coarctation of Aorta 17 + 1/2 74548 VSD, Large, Perimembraneous 17 * 1/2 747.5 Single Umbilical Artery 740 21 Ininencephaly Apterus 756.60 Agenesis of Diaphragm, bilateral 756 79 Eventration of Viscera: lungs, heart, liver, spleen, pancreas, & gut 74190 Cervicothoracic Rachischisis 756 71 Gastroschisis (? Omphalocele) 746.4 Bicuspid Aortic Valve with Stenosis 762.60 Short Umbilical Cord 757 8 Pterygia 744.28 Bilateral Anterior Axiallary Folds 747,10 Preductal Coarctation of Aorta 746 88 Enlarged R Atrium 748.58 Small Single Lobed Lungs 7597 Imp: MCA, Gastroschisis-Rachischisis-Anencephaly 756.16 Fusion of Vertebrae S2 + S3 757.2 Bilateral Simian Crease 755.50 Bilateral 5th Finger Clinodactyly 747.5 Single Umbilical Artery 751.21 Rectovescicle Fistula 751.23 Imperforate Anus 753 oo Renal Agenesis, R Kidney 750 31 Tracheoesophageal Fistula, Type IIIB 758 oo Imp: Down's Syndrome 759,89 Imp: Probable VATER Association 753,00 Renal Hypoplasia, L Kidney 22-23 741.90 Thoracolumbar Rachischisis 22-23 754.73 Bilateral Club Feet 22-23 Imp: Multifactorial NTD Appendix III Autopsy Findings 156 Method Amniotic HGA at Narrow Diagnosis: of TA Fluid Termination Code: 758.20 imp: Trisomy 18 Syndrome - 47, XX, + 18 755.51 Camptodactyly with 2nd & 5th Digits Overlapping 3rd & 4th Fingers 758 oo Imp: Down's Syndrome - 47, XY, + 21 No Developmental Anomalies Identified in the Intact Parts Head is severely damaged and not assessable. 772.1 Old Intraventricular Hemorrhage 755.50 Bilateral 5th Finger Clinodactyly 750.18 Protruding Tongue 755.60 Short 1st Toe with Enlarged gap btwn 1st & 2nd Toes 756.30 11 Ribs 18 + 1/2 745 48 VSD, Small, Perimembranous 18 * 1/2 Imp: Down' Syndrome - 47, XX, + 21 742.58 Leptomeningeal Glial Heterotopias 771.1 Imp: Intrauterine CMV Infection 754.73 Club Feet 742.48 Cavitated lesion, L Frontal Lobe (Brain) 772.1 Hemorrhages, recent and old (brain) 744.24 Low-Set Ears 757.2 Simian Crease - R Hand 748 si Pulmonary Hypoplasia 524.0 Small Mandible 742.25 Polymicrogyria 742.28 Necrosis of Lower Half Cortex Rist Insula Posterior (Brain) 7780 Hydrops Fetalis 771.1 Cytomegalic Inclusion, including liver,pancreas, intestinal tract, placenta, adrenal cortex, kidney & brain 742.23 Focal Loss of External Granular Layer, Cerebellum 762 or 77 Imp: Acquired Mat. Antiplatlet Antibody Leading to Fetal AHoimmune thrombocytopenia & hemorrhagic complications 778.0 Mild Fetal Hydrops 742 48 Cerebral, Cerebellar and Brainstem Hemorrhages 511.9 Bilateral Clear Pleural Effusions 762.23 ? Maternal Antiplatelet Antibodies 753.18 Renal Extramedullary Hematopoesis 21 No Dev. Anomalies 21 758.84 Imp: 47, XYY Syndrome u 758.10 Imp: Trisomy 13 Syndrome - 47, XY, + 13 14 No Developmental Anomalies Identified in the Available Intact Parts 23 753.80 Hypoplastic Bladder 23 761.2 Oligohydramnios Sequence 23 754.88 Limb Contractures 23 762.20 Placental Chorangioma 23 744.24 Flat Low Set Ears 23 748.51 Hypoplastic Lungs 23 748.18 Small Flattened Nose 23 ' 753.16 Bilateral Cystic Renal Dysplasia 12*1/2 GP. 14-15 date No Comments in Report About Fetal Tissues Examined 12+1/2 GP. 14-15 date 758.20 Imp: Trisomy 18 Syndrome - 47, XX, + 18 12+1/2 GP. 14-15 data No Developmental Anomalies Are Identified in Intact Parts 19 + 1/2 No Developmental Anomalies 19 + 1/2 Imp: 45, X / 47, XXX Mosaic 23 + 1/2 751.24 Low Imperforate Anus 23 + 1/2 750.24 Asymmetric High Arched Palate 23 + 1/2 750.18 Short Lingual Frenulum 23 + 1/2 524.0 Mildly Small Mandible 23+ 1/2 742.28 Hypoplasia of Olfactory Bulbs/Tract 23+ 1/2 742.58 Duplication of Central Canal, Spinal Cord 23+ 1/2 759.08 Splengogonadal Fusion, Left Side 23 + 1/2 744.24 Low Set Ears 23 + 1/2 755 40 Quadra-Amelia (complete absence of all Limb Bones and Soft Tissues) 23 + 1/2 759 89 Imp: Limb Anomalies - Unknown Cause Imp: Multifactorial NTD 740.02 Anencephaly 741.90 Cervical Spinal Rachischisis 759.11 Hypoplastic Adrenal Glands 748.51 Pulmonary Hypoplasia 754.73 Club Foot, Right 753 32 Horseshoe Kidneys Appendix III Autopsy Findings 157 Code Mothoa Amniotic EGA at Narrow Diagnosis: NO' of TA Fluid Termination Code: 1 1 17*5 741.98 Lumbosacral Meningomyelocele 1 1 17* 5 lmp:Multifactorial NTD 36993 2 1 19-20 740.02 Anencephaly (Meroacrania) 2 1 19-20 759.11 Adrenal Hypoplasia 2 1 19-20 748.51 Pulmonary Hypoplasia 2 1 19-20 753.38 Crossed Renal Ectopia - L Hand 2 1 19-20 752.38 Unicomate Uterus (Absent L Uterine Horn) 2 1 19-20 Imp: Multifactorial NTD, Incomplete Multerian Fusion 2 1 19-20 755.01 Preaxial Thumb Tag (Polydactyly - R Hand) 37114 ; 1 22 No Developmental Anomalies in Intact Parts 1 22 Head/Brain Not Accessable, PND findings not confirmed 1 22 Imp: U/S identified Brain Anomalies 37134 2 1 16 * 5 747.64 Retroesophageal R Subclavian Artery 2 1 16 * 5 758.10 Imp: Trisomy 13 Syndrome - 47, XX, + 13 2 1 15* 5 744.88 ? Nuchal Edema 2 1 16 * 5 755.00 Post-Axial Tag - R hand 2 1 16 * 5 749.07 Cleft Soft Palate 2 1 16* 5 553.1 Omphalocele 2 1 16*5 747.5 Single Umbilical Artery 2 1 16 + 5 756 17 Sacrococcygeal Teratoma 37154 1 1 10 + 6 758.60 Imp: Turner's Syndrome - 45, X 1 1 10 * 5 No Developmental Anomalies in Parts Available 1 1 10 * 6 Head is severely damaged and not assessable. 37164 1 1 17 757.2 Bilateral Simian Crease 1 1 17 758.00 Imp: Down's Syndrome 1 17 755.50 Bilateral 5th Finger Clinodactyly 1 1 17 Multiple placental and fetal fragments 37166 1 1 14 * 1/2 755.01 Pre-axial Polydactyly, Bilateral Thumbs 1 1 14 * 1/2 Scant Internal Viscera Received 1 1 14 * 1/2 758.10 Imp: Trisomy 13 Syndrome 37169 1 1 17* 4 755.02 Polydactyly, Postaxial, Bilateral, Feet 1 1 17 + 4 758 58 Imp: Unbalanced Robertsonian Translocation = Trisomic for Chr 13 1 1 17 + 4 755.00 Polydactyly, Postaxial, Bilateral, Hands 1 1 17 + 4 PND of Spina Bifida Is Not Confirmed Due To Fragmentation 1 1 17 + 4 754.73 Bilateral Club Foot 37182 1 1 16+1/2 9p, 17+4 dates 756 08 Cephalocele, Atretic, Occipital, (No Neuronal Component) 1 1 16+1/2 gp, 17+4 dates Imp: Likely Multifactorial NTD but cannot fully rule out AR condition 1 1 16+1/2 gp. 17*4dates No Other Developmental Anomalies 37304 1 14 758.00 Imp: Down's Syndrome , PND of Edema not confirmed due to fragmentation 1 1 14 No Developmental Anomalies in Parts Available 37326 , 1 21 Imp: Multifactorial NTD 1 1 21 742.00 Occipital Encephalocele 1 1 21 741.98 Meningomyelocele 37327 2 1 19+1/2 758.00 Imp: Down's Syndrome 2 1 19+1/2 757.2 L Simian Crease 2 1 19+1/2 756.08 Flat Occiput 2 1 19*1/2 755.50 Bilateral 5th Finger Clinodactyly 2 1 19*1/2 748.51 Borderline Small Lungs 37341 2 1 23 748.51 Hypoplastic Lungs 2 1 23 750.18 Protuberant Tongue 2 1 23 756.34 Short Ribs 2 1 23 756.18 Platyspondyly 2 1 23 754.42 Telephone Receiver Femora 2 1 23 744.24 Low Set Ears 2 1 23 754 00 Flat Midface 2 1 23 748.58 Incomplete Lobation of R Lung 2 1 23 742.48 Migration Abn in Incomplete Lobation 2 1 23 754.82 Narrow Chest 2 1 23 751.5B Multiple Diverticula of the Appendix 2 1 23 754.4 Shortness and Bowing of Limb Bones 2 1 23 762.28 Placenta with Accelerated Villus Maturation 2 1 23 Normal Trunk Length 2 1 23 759.18 Fetal Hypoxic Distress - Microcystic Change and Steatosis in Adrenal Cortex 2 1 23 742.48 Brain showed abnormally large infolding temporal lobes 743.63 Oligohydramnios Phenotype: Prominent Epicanthal Folds Appendix III Autopsy Findings 158 Code Method Amniotic EGA at Narrow Diagnosis: No: of TA Fluid Termination Code: 753.16 Imp: Renal Adysplasia or Sporadic Renal Dysplasia and Agenesis 753.88 Allantoic Bladder 744.24 Oligohydramnios Phenotype: Low Set Ears 524.0 Oligohydramnios Phenotype: Recessed Chin 753.00 Unilateral Renal Agenesis, Right Kidney 753.16 Multicystic Dysplastic Left Kidney 748.51 Oligohydramnios Phenotype: Pulmonary Hypoplasia Oligohydramnios Phenotype: Amnion Nodosum 3.5% R.R. for siblings in families with no history and parents with no renal problems Abn. Gyral Pattern of Cerebral Hemispheres 754.00 Facies consistent with Oligohydramnios 753.00 Renal Aplasia 754.88 Chest Hypoplasia 754.73 Possible Club Feet 755.24 4 Digits Only, Upper Limbs - Bilateral 753 40 Absent Ureters 751.24 Imperforate Anus 748.51 Bilateral Pulmonic Hypoplasia 753.88 Bladder Hypoplasia 756 30 Bilateral Radial Ray Anomalies, 11 ribs R side, 12 ribs L side 759.89 Imp: Possibly VATER Syndrome 755.26 Absent Radius Bilaterally 524 0 Micrognathia 759.89 Imp: Multiple Pterygia Syndrome 754.20 Severe Levoscoliosis 757 a Prominent Popliteal, Axillary & Cubital Pterygia 748.51 Severe Pulmonary Hypoplasia 744.24 Low Set Ears 751.01 Meckel's Diverticulum 744.88 ? Mild Nuchal Thickening 756.92 Abnormal Bone Maturation 751.73 Ectopic Pancreas 755.51 Clenching Fingers, Bilateral 748.51 Decreased Lung Weight 762.28 Hypovascular Villi 747.5 Single Umbilical Artery 758.10 Imp: Trisomy 13 Syndrome 744 24 Low-Set Ears 748.18 Beak-Like Nose 756.68 L Sided Diaphragmatic Hernia 742.1 Microcephaly 742 48 Decreased Brain Weight No Developmental Anomalies in Intact Parts 758,58 Imp: 46, XY, - 4, + der(4), t(4;11)(q35;q21)mat. Subcutaneous Edema Including Dorsumof Hands & Feet Nuchal Cystic Hygroma 751.68 Subcapsular Calcification in Liver with Hemosiderin Deposition 758.60 Imp: Turners Syndrome 744.24 Slightly Low Set Ears 755.50 Bilateral Clinodactyly due to absence of Mid Phalanx on Left & Severe Hypoplasia on Right 756.08 Flat Occiput 750.18 Protruding Tongue 748.18 Broad Flat Nose 758.00 Imp: Down's Syndrome 17* a 758.00 Imp: Down's Syndrome 17+ 6 755.50 Bilateral 5th Finger Clinodactyly with Absence of Middle Phalanx 753.18 Cystic Change in Kidneys 755,50 Bilateral 5th Finger Clinodactyly 758.00 Imp: Down's Syndrome 762.28 Basement Membrane Mineralization of Chorionic Villi Fresh fetal and placental tissue (fetal parts) 755.50 Bilateral 5th Finger Clinodactyly 758,00 Imp: Down's Syndrome 745,63 AV Canal Defect 757,2 Bilateral Simian Creases No other Developmental Anomalies 755 50 Clinodactyly R 5th Finger 758,00 Imp: Down's Syndrome Appendix III Autopsy Findings 159 Code Method Amniotic EGA at Narrow Diagnosis: No: olTA Fluid Termination Code: 744 88 7 Minimal Nuchal Thickening 759.18 Adrenal Cytomegaly with Impaired Neuroblast Migration 553.1 Omphalocele 747 5 Single Umbilical Artery 553.1/759 Imp: Isolated Omphalocele or Beckwith-Weidemann Syndrome 755 50 Brachydactyly of Right Hand PND of CNS Abnormalities Not Confirmed Due to Fragmentation 754.4 Shortening & Bowing of Long Bones 755 38 Absent Fibula 755 19 Oligosyndactyly of Foot 553 1 Omphalocele Imp: Fuhrmann Syndrome or another skeletal dysplasia syndrome 755.88 ? Abnormal Distal Ossification 750 18 Protuberant Tongue 757.2 Bilateral Simmian Crease 758.00 Imp: Down's Syndrome 755.50 Bilateral 5th Finger Clinodactyly 755.50 Brachydactyly, Hands, Mild 756.08 Hypotelorism 749.21 Bilateral Cleft Palate 749.21 Bilateral Cleft Lip 743 1 Rudimentary Eye Analogue Fused with Cerebral Tissue 742.26 Brain Consistent with Holoprosencephaly 753 oo Renal Hypoplasia 751.73 Ectopic Pancreas 75110 Membranous Duodenal Atresia 762.28 Large Placenta with Marginally Attached Umbilical Cord 758.00 Imp: Down's Syndrome 744.88 Facial Phenotype of Trisomy 21 757.2 R Simian Crease 755.50 Bilateral 5th Finger Clinodactyly 759.24 Large Hassall's Corpuscle, Thymus 751.33 Hirschsprung's Disease Acute Fetal Distress Aspirated Amniotic Fluid Squames, Lungs Scant Internal Viscera are identified No Developmental Anomalies in Parts Available 758.00 Imp: Down's Syndrome 7431 Microophthalmia 747 26 Overriding Aorta 746.83 Subvafvular Pulmonic Stenosis 746.08 Bicuspid Pulmonic Valve 747.32 Pulmonary Artery Stenosis 746.1 Dysplastic Tricuspid Valve 747 41 Persistent L Superior Vena Cava 75550 Polydactyly and Clinodactyly of 5th Finger, Bilateral 751.01 Meckel's Diverticulum 754.00 Depressed Nasal Bridge 751 73 Ectopic Pancreas 749.07 Cleft Soft Palate with Bifid Uvula 744.28 Poorly Developed Aural Pinnae 751 49 Intestinal Malrotation 742.28 Absent Olfactory Bulb and Tract 759.04 Accessory Spleen 744.24 Low Set Rotated Ears 653 1 Omphalocele 743.67 Deep Orbital Cleft 752.86 Small Penis with Poorly Developed Corpona Cavernosa 745 48 VSD, Perimembranous 745 20 Tetralogy of Fallot 752 88 Distal Urethral Obstruction Secondary to Prostatic Aplasia/Hypoplasia 758 10 Imp: Trisomy 13 Syndrome 753 88 Massive Dilatation of Bladder 753.20 Bilateral Hydronephrosis 753.29 Bilateral Hydroureter 524.0 Retrognathia 753 99 Congenital Obstructive Uropathy 756.79 Massive Distention of Anterior Abdominal wall with Muscular Atrophy 524 0 Micrognathia 748 51 Severe Pulmonary Hypoplasia 761 2 Oligohydramnios Sequence 753.00 Medullary Dysplasia of Kidneys, Bilateral 762.28 Small Amniotic Cyst in Placenta Appendix III Autopsy Findings 160 Method Amniotic EGA at Narrow Diagnosis: o(TA Fluid Termination Code: 13 + 1/2 740.02 Anencephaly with... 13 * 1/2 759.11 Small Adrenals, Attenuated Fetal Cortex 13 + 1/2 Imp: NTD & CHD Possibly due to Maternal IDDM 13 + 1/2 747.10 Preductal Coarctation of Aorta 745 48 VSD, Small 745.88 Polyvalvular Dysplasia (Tricuspid Valve and Pulmonary Valve) 741 90 Cervical Rachischisis 755.50 Bilateral 5th Finger Clinodactyly 758.00 Imp: Down's Syndrome 745.63 AV Canal Defect The head is severely damaged. Nuchal cystic hygroma is not assessable. 754.73 Bilateral Club Feet 755.51 Abn. Flexion of Fingers, Left Hand 742.48 Destruction of Cells in Ventricular zone with Phagocytosis 759.89 Imp: Neu Loxova Syndrome 742 48 Migration Abnormality, Brain 20 * 1/2 Flattened Nose 20- 1/2 743.32 Cateractus Fetal Eye - Right 20* 1/2 756.02 Hypertelorism 20* 1/2 759.7 Imp: MCA, Unknown Cause 749.09 Cleft Palate 759.11 Hypoplasia of Adrenals 751.49 Malrotation of Bowel 752.86 Smalt Penis Hypospadius Contractures at the Knees Broad Nose with Flattened Deep Nasal Bridge Low Set Posteriorly Rotated Ears Valvular Cusp Thickening & Shortening of Aortic Vatve Agenesis of Corpus Callosum 746.88 Ventriculr Hypertorphy 747.64 Retroesophageal Right Subclavian Artery 745.50 ? Hypoplasia of Foramen Ovale 753.00 Renal Hypoplasia 228.1 Posterior Nuchal - Occipital Cystic Hygroma 778.5 Upper Extremity and Thoracoabdominal Skin Edema 756.08 Flattened Occiput 745.63 Partial (Incomplete) AV Canal 746 88 Cardiomegaly with hypertrophy of R Atrium and Ventricle 762.28 Placenta with Edema and Villus Dysmaturity 748.51 Lung Hypoplasia 758.00 Imp: Down's Syndrome 778.5 Mild Subcutaneous Edema 746.1 Hypoplasia of Tricuspid Vatve 746 oo Atresia of Pulmonic Vatve Imp: Congenital Heart Defect 746.88 Hypoplasia of R Ventricle 747.28 ? Hypoplasia of Ductus Arteriosus 20 (G.P.) > 4 days retention 20 (G.P.) 756.71 Ga stroschi si s 20 (G.P.) 762.8 Amnion Epithelium Displays Vacuolation (microscopic) Germinal Eminence Hemorrhage, Bilateral, Brain, due to termination Villus Edema, Placenta Adult Type Polycystic Kidney Disease 743.1 Disorganized Ocular Development 762 a Imp: Amniotic Band Complex 744 91 Craniofacial Dysmorphism, Severe 18* 1/2 742.48 Disorganized Brain 18 + 1/2 756.12 Kyphoscoliosis, Severe 743.1 Absent Globes 762.28 Absent Amnion, Placental Disc 751.62 Ectopic Liver 754.73 Club Foot, Left 755.26 Radial Agenesis, L Arm 18 • 1/2 755.61 Amputations 2nd and 5th Toes R Foot 18* 1/2 762.8 Constriction Bands 2nd toe R Foot 18 * 1/2 744.01 Absent External Ears 18 - 1/2 762 8 Constriction Bands 4th 4 5th Fingers L Hand 18 * 1/2 748.10 Absent Nose 749.29 Severe Clefting Palate Appendix III Autopsy Findings Code Method Amniotic EGA at Narrow Diagnosis: No: ofTA Fluid Termination Code: 749.29 Severe Clefting Lip 18 * 1/2 742.48 Cranial Defect with Cerebrovasculosa Formation 18 - 1/2 762.60 Short/Absent Umbilical Cord 742.39 Hydrocephalus 742.48 Leptomeningeal (cerebellar) Anomaly No Other Developmental Anomalies 754,73 Right Clubbed Foot 756.08 Malformation of Skull with Wide Flat Clivis 756 oa Absence of Cribriform Plate 743.67 Abnormal Right Orbit 743.1 Rudimentary R Eye with Extensive Colobomatus Malf. 756.08 Hypoplastic Posterior Fossa 754.73 Club Foot L Side 75588 Arthrogryposis 743.1 Abn. L Eye with Absence of Ganglion Cells and Optic Nerve Hypoplasia 762 8 Imp: Amniotic Rupture (Band) Sequence 754.20 Thoracic Scoliosis 756.08 Cafvarium is Defective 748.10 Hypoplastic R Nostril 742.48 Distorted Cerebellum 742 4 2 Intracranial Cystic Structure 742.21 Corpus Caltosum Agenesis 748 1 8 Defective Nose with Two Separate Trunk Formation 742.48 L Frontal Lobe Herniation Imp: Multifactorial NTD - Anencephalus 740.02 Anencephalus 753.29 Bilateral Hydroureters 759.11 Hypoplasia of Adrenal Glands 20 • 1/2 755.50 Bilateral 5th Finger Clinodactyly 20 + 1/2 757.2 Split Simian Crease, R Hand 20 + 1/2 757.2 Simian Crease, L Hand 20 • 1/2 758.00 Imp: Down's Syndrome 744.88 Slight Nuchal Thickening No Other Developmental Abnormalities in Intact Parts Slight Nuchal Thickening. Section taken of the nuchal skin shows mild interstitial edema in the subutaneous tissue. There are no dilated lymphatic channels in this section. 758 oo Imp: Down's Syndrome 755,50 Bilateral 5th Finger Clinodactyly No Developmental Anomalies 759 89 Imp: VATER syndrome, Thrombocytopenia Absent Radius syndrome, or Holt-Oram syndrome 755,25 L Radial Aplasia Termination and Autopsy performed in Seattle 745 48 VSD, perimembranous 24 (G P.)/23 dates Skin Slippage Chest And Anns 24 (G.P.)/23 dates Definite Urinary Bladder Identified 24 (G.P.)/23 dates 753.16 Cystic Dysplasia Both Kidneys 24 (G.P.)/23 dates 753.29 Narrowing of the Pefviureteral Junction 24(G.P.)/23 dates 753.69 Narrowing & Inturruption of Penile Urethra 24(G.P.)/23 dates 747,5 Single Umbilical Artery 553,1 Omphalocele PND of CPC not Confirmed Due To Fragmentation 745 48 VSD, Perimembranous 746,88 Polyvalvular Dysplasia 754,73 R Club Foot 524 o Slight Micrognathia 758 30 Imp: Trisomy 18 Syndrome 758 10 Imp: Trisomy 13 Syndrome 74548 VSD, Perimembranous No Other Developmental Anomalies 745.4B VSD, Perimembranous 755.50 Bilateral 5th Finger Clinodactyly, Hypoplasia of midphalanx 758.00 Imp: Down's Syndrome 758 00 Imp: Down's Syndrome 755.50 Bilateral 5th Finger Clinodactyly No Other Developmental Anomalies No Other Developmental Abnormalities Appendix III Autopsy Findings Code Method Amniotic EGAal Narrow Diagnosis: TA Fluid Termination Code; 2 1 19 + 4 755.50 Mild Bilateral 5th Finger Clinodactyly 2 1 19 * 4 758.02 Imp: 46, XX, - 21, + der(21), t(21:?) 2 1 25 Imp: Multifactorial NTD 2 1 25 741.98 Lumbosacral Myelocele 1 16 758.00 Imp: Down's Syndrome 1 1 16 No Developmental Anomalies in Intact Parts 2 1 20-21 756.61 Diaphragmatic Hernia 2 1 20-21 GP. 22 Dates Imp: Multifactorial NTD 2 1 20-21 GP. 22 Dates 740.02 Anencephaly 2 1 20-21 GP. 22 Dates 748.51 Hypoplasia of Lungs 2 1 20-21 GP, 22 Dates 759.11 Hypoplasia of Adrenals 2 1 15 758.58 Imp: 46, XX, rec (18), dup, pinv(18)(p11.2;q23)mat 2 1 15 No Developmental Anomalies Identified 2 1 13 762.7 Placental with Chorioamnionitis 2 1 13 746.5 Dysplasia of Mitral Valve 2 1 13 755.50 Bilateral 5th Finger Clinodactyly 2 1 13 748.51 Pulmonary Hypoplasia 2 1 13 745 48 VSD, Large Subaortic 2 1 13 759.24 Thymic Hypoplasia 1 13 762.28 Placenta with Scattered Mineralization 1 13 745,11 Double Outlet R Ventricle 1 13 745,88 Absence of Leaflet Tissues, Pulmonic Valves and Aortic Vatves 1 13 747.10 Preductal Coarctation of Aorta 1 13 746.1 Dysplasia of Tricuspid Valve 1 13 747,5 2 Vessel Umbilical Cord 1 13 755,50 Bilateral 5th Finger Clinodactyly 1 13 228.1 Cystic Hygroma 1 13 758.00/75 Imp: Features Consistent with T21 or Di Georges Syndrome 1 18 + 1/2 754,73 Bilateral Club Feet 1 18+1/2 755.50 Bilateral 5th Finger Clinodactyly, with mid phalanx hypoplasia 1 18+1/2 745.48 VSD, perimembranous 1 18+1/2 751.01 Meckel's Diverticulum 1 18*1/2 Imp: Down's Syndrome 1 18 + 1/2 751,40 Malrotation of Small Bowel with Ceacum attached to the Ant. Abd. Wall 1 18+1/2 748.58 Incomplete Fissure Formation, Both Lungs 1 18+1/2 746.4 Bicuspid Aortic Valve 1 13 + 2 758.02 ? Imp; Unbalanced Reciprocal Translocation - 46, XX, -21, +der(18), t(18;21) 1 13 + 2 746,5 Nodular Dysplasia Mitral Valve 1 13 + 2 755.51 Abnormal Hand Position 1 13 + 2 746.1 Nodular Dysplasia Trucuspid Valve 1 19 + 2 755.50 Bilateral 5th Finger Clinodactyly 1 19 + 2 758.00 Imp: Down's Syndrome 1 19 + 2 750.18 Protruding Tongue 2 1 17-18 742.48 Twin A Cerebellar Malformation 2 1 17-18 759.08 Twin B Abnormal Lobation of Spleen 2 1 17-18 742.58 Twin A Periventricular Leukomalacia with Calcification 2 1 17-18 742.88 Twin A Absent Optic and Olfactory Lobes 2 1 17-18 759.89 Twin B Cyclopia with Rodumentary Globe Development 2 1 17-18 756.08 Twin B Proboscis Above Eye Slit 2 1 17-18 750.28 Twin B Absent Philtrum 2 1 17-18 750.28 Twin B Small Mouth 2 1 17-18 749,09 Twin B Widely Cleft Palate 2 1 17-18 744.23 Twin B Dysmorphic Ears 2 1 17-18 751.58 Twin B Anteriorly Placed Anus 2 1 17-18 753.00 Twin B Hypoplastic Kidneys 2 1 17-18 753.29 Twin B Hydroureters 2 1 17-18 762.7 Twin A Amniotic Infection Syndrome 2 1 17-18 759.11 Twin B Bilateral Adrenal Hypoplasia 2 1 17-18 742.26 Twin A Semilobar Holoprosencephaly 2 1 17-18 741.98 Twin B Lumbosacral Meningomyelocele 2 1 17-18 756.18 Twin B L5 Vertebral Dysraphism 2 1 17-18 742.1 Twin B Microcephaly 2 1 17-18 742.26 Twin B Alobar Holoprosencephaly 2 1 17-18 742,58 Twin B Periventricular Leukomalacia 2 1 17-18 742.48 Twin B Cerebellar Malformation - Hypoplasia of Vermis and Displacement of Hemispheres 2 1 17-18 742.28 Twin B Absent Pituitary 2 1 17-18 742.88 Twin B Absent Olfactory Nerves 2 1 17-18 742,88 Twin B Absent Optic Nerves 2 1 17-18 742.88 Twin B Absent corticofungal Tracts Appendix III Autopsy Findings Code Method Amniotic EGA at Narrow Diagnosis: f TA Fluid Terr ni nation Code: 2 1 17 18 762.7 Twin B Amniotic Infection Syndrome 2 1 17 18 753 99 ? Twin B Thin Urorectal Septum 2 1 17 18 748.58 Twin B Bilateral Unilobate Lungs 2 1 17 18 753.99 ? Twin A Thin Urorectal Septum 2 1 17 18 759.89 Twin A Cyclopia with True Single Globe 2 1 17 18 743.63 Twin A Notched Lower Lid 2 1 17 18 742.88 Twin A Absent Optic Nerve 2 1 17 18 743.51 Twin A Retinal Dysplasia 2 1 17 18 756.08 Twin A Proboscis Above Orbit 2 1 17 18 750 28 Twin A Absent PhiRrum 2 1 17 18 750 28 Twin A Small Mouth 2 1 17 18 749 09 Twin A Widely Cleft Palate 2 1 17 18 744.23 Twin A Dysmorphic Ears 2 1 17 18 757 2 Twin A Abnormal Palmar Crease 2 1 17 18 754.73 Twin A Bilateral Club Feet 2 1 17 18 553.1 Twin A Small Omphalocele 2 1 17 18 762.20 Twin A Chorangioma, Small 2 1 17 18 751.58 Twin A Anteriorly Placed Anus 2 1 17 18 742.48 Twin A Fusion of Thalmi 2 1 17 18 753.29 Twin A Hydroureters 2 1 17 18 752.38 Twin A Bicomuate Uterus 2 1 17 18 748.58 Twin A Bilateral Abnormal Lung Lobation 2 1 17 18 759.11 Twin A Bilateral Adrenal Hypoplasia 2 1 17 18 742.28 Twin A Absent Pituitary 2 1 17 18 745.20 Twin A Tetralogy of Fallot 2 1 17 18 746.08 Twin A Bicuspid Pulmonic Valve 2 1 17 18 746.6 Twin A Dysplastic Mitral Valve 2 1 17 18 746.1 Twin A Dysplastic Tricuspid Valve 2 1 17 18 746.4 Twin A Dysplastic Arotic Vatve 2 1 17 18 742.1 Twin A Microcephaly 2 1 17 18 758.58 Imp: Twins: 46, XX, der(7), t(3;7)(q27;q36) mat 2 1 17 18 753.00 Twin A Hypoplastic Kidneys 2 1 17 18 757.2 Twin B Abnormal Palmar Crease 2 1 19 20 Wks 754.88 Narrow Chest, Short Ribs 2 1 19 20 wks 754.4 Bowing of Long Bones 2 1 19 20 wks 755.67 Short Broad Pelvis 2 1 19 20 wks 756.18 Flattening of Vertebral Bodies with Central Anterior Spikes 2 1 19 20 wks 754 88 Focal Metaphyseal Spikes on Long Bones 2 1 15 20 wks 754.88 Characteristic Histologic Abnormality of Rib, Iliac Crest and Femur 2 1 19 20 wks 748.51 Lung Hypoplasia 2 1 19 20 wks 742.48 Radially Orientated Gyri, Inferior Temporal Lobes 2 1 19 20 wks 742.48 Abnormal Formation of the Hippocampus 2 1 19 20 wks 759.04 Two Small Accessory Spleens 2 1 19 20 wks 753.70 Patent Urachal Remnants 2 1 19 20 wks 755.88 Severe Symmetrical Shortening, Rhizomelic and Mesomelic, Upper 1 1 13 6 753.18 Microcystic Changes in Kidney 1 1 13 6 762 28 Fibrosis and Edema of Placental Villi 1 1 13 6 PND of Cystic Hygroma not Confirmed Due to Fragmentation 1 1 13 6 758.10 Imp: Trisomy 13 Syndrome 2 1 15 511.9 Pleural Effusion 2 1 16 758.60 Imp: Turner's Syndrome 2 1 16 778.0 Fetal Hydrops 2 1 16 778.0 Ascites 2 1 16 748 51 Pulmonary Hypoplasia 2 1 16 747.21 Aortic Arch and Isthmus Hypoplasia 2 1 16 746.1 Tricuspid Valve Dysplasia 2 1 16 753.20 L Hydronephrosis 2 1 16 228.1 Cystic Hygroma, Nuchal 2 1 22 Imp: Multifactorial NTD 2 1 22 759.11 Adrenal Hypoplasia 2 1 22 No Recognizable CNS Tissue is Noted 2 1 22 740.02 Anencephaly 2 1 25 740.02 Both Twins Anencephalic 2 1 25 751.62 Both Twins Subcapsular Hemotomas in the Liver 2 1 25 742.48 Both Twins Aspiration of Cerebral Tissues in Bronchi and Alveoli 2 1 25 759.11 Both Twins Bilateral Adrenal Hypoplasia 2 1 25 ? Both Twins Multiple Subpleural (?) Petechial Hemorrhages 2 1 18 511.9 Bilateral Pleural Effusions 2 1 18 757.8 Multiple Pterygia - Neck, Antecubital, Axillary, Inguinal 2 1 18 749.07 Cleft Soft Palate 2 1 18 228 1 Circumferential Cervical Cystic Hygroma 2 1 18 755.50 Abnormal Hand Posture with Thumb Tethered to Palm 2 1 18 755 62 Fixed Dorsiflexion of Ankles Appendix III Autopsy Findings 164 Code Method Amniotic EGA at Narrow Diagnosis: No: of TA Fluid Termination Code: 2 1 18 755.64 Fixed Hypertension at Knees 2 1 18 762.60 Short Umbilical Cord 2 1 18 748.51 Severe Lung Hypoplasia 2 1 18 753.00 Mild Renal Hypoplasia 2 1 18 742.48 Brain Infarction, Cortex, Bilateral 2 1 18 742.25 Focal Polymicrogyria 2 1 18 764.9 IUGR 2 1 18 759.89 Imp: Consistent with Multiple Pterygium Syndromes 2 1 18 756.12 Thoraco-Lumbar Kyphosis 2 1 18 756.90 Severely Reduced Muscle Bulk, Hypoplasia vs. Aplasia 38349 2 1 20 No Other Developmental Anomalies 2 1 20 Imp: Multifactorial NTD 2 1 20 741.94 Meningocele, Coccygeal with Ulcerated Soft Tissue Cyst Over Sacrum 38356 1 1 14 754.88 Symmetrical Short Limbs 1 1 14 PND of Hydrocephalus not confirmed due to fragmentation 1 1 14 756.34 Beaded Ribs 1 1 14 733.1 Multiple Fractures Involving Long Bones 1 1 14 755.88 Osteopenia Long Bones 1 1 14 756.08 Osteopenia Calvaria 1 1 14 756.50 Abnormal Type 1 Procollagen Synthesis 38364 1 1 18 758 00 Imp: Down's Syndrome 1 1 18 762.28 Trophoblast Irregularity 1 1 18 762.28 Placenta with Focal Villus Edema and Sclerosis 1 1 18 757.2 Bilateral Simian Creases 1 1 18 755.50 Bilateral 5th Finger Clinodactyly 38374 1 1 18 No Other Developmental Anomalies in Parts Available For Examination 1 1 18 757.2 Simian Crease, L Hand 1 1 18 758.00 Imp: Down's Syndrome 1 1 18 755.50 Mild Bilateral 5th Finger Clinodactyly 38380 1 1 16 771.29 PCR Positive for Parovirus B19 DNA 1 1 16 778.5 Subcutaneous Edema, Moderate, Hands and Feet 1 1 16 771.29 Imp: Likely Parovirus Infection 1 1 16 No Developmental Anomalies 38291 1 2 16 + 3 758.61 Imp: Mosaic Turner's Syndrome 1 2 16+3 No Developmental Abnormalities 38506 1 1 16 No Developmental Abnormalities 1 1 19 758.61 Imp: Mosaic Turners Syndrome 28522 2 1 17 753.00 Hypoplastic Kidneys, Bilaterally 2 1 17 752.38 R Hemiuterus 2 1 17 752.48 Ambiguous External Genitalia 2 1 17 756.16 Vertebral Anomalies L2-4 2 1 17 756.30 11 Ribs, R Side 2 1 17 755.50 Bilateral 5th Finger Clinodactyly' 2 1 17 755.24 Absent Thumbs, Bilaterally ' 2 1 17 750.12 Large Tongue 2 1 17 744.23 Dysplastic Ears 2 1 17 744.91 Upslanting Palpebral Fissures 2 1 17 749.22 Median Cleft Palate 2 1 17 749.22 Median Cleft Lip 2 1 17 Brain Tissue Lost Through Defect 2 1 17 758.19 Imp: 46, XX, -13, + ring 2 1 17 742 08 Probable Encephalocele, Posterior Parietal 2 1 17 747.21 Aortic Arch Hypoplasia, Preductal 2 1 17 747 41 Persistent L Superior Vena Cava 38524 2 1 16- 18 G.P 26 Dates 756 08 Nonossified Skull 2 1 16 - 18 G P 26 Dates 754.88 Shortened Long Bones 2 1 16- 18 G P 26 Dates 778.0 Hydrops Fetalis 2 1 16- 18 G.P 26 Dates 748.51 Pulmonary Hypoplasia 2 1 16- 18GP 26 Dates 742.39 Possible Hydrocephalus 2 1 16- 18 G.P 26 Dates 755 34 L Foot, 1st toe amputation 38550 2 1 15+5 749.07 Small Cleft Soft Palate 2 1 15+5 757.31 R Thumb is Represented by a Skin Tag 2 1 15+5 747.21 Mild Tubular Hypoplasia of the Preductal Aorta 2 1 15 + 5 747.5 Single Umbilical Artery 2 1 15*5 750.32 Tracheoesophageal Fistula 2 1 15 + 5 753.00 Bilateral Renal Aplasia 2 1 15 + 5 745.48 Small Perimembranous VSD 2 1 15 * 5 758.20 Imp: Trisomy 18 Syndrome 2 1 15 + 5 744.88 Nuchal Thickening Appendix III Autopsy Findings 165 Method Amniotic EGA at Narrow Diagnosis: of TA Fluid Termination Code: 746.88 Cardiac Valvular Dysplasia 22-23 Imp: Multifactorial NTD 22-23 Lumbosacral Spina Bifida Confirmed 22-23 PND of Arnold Chiari Malformation Not Confirmed Due To Fragmentation Imp: Multifactorial NTD Meningocele, Lower Thoracic and Upper Lumbar No Other Developmental Abnormalities Imp: Turner's Syndrome Generalized Subcutaneous Edema The cranial vault is damaged and the neck is not identified therefore the cystic hygroma cannot be confirmed. Imp: Unknown Cause of Anomalies Possible Craniofacial Dysmorphism, Mild Imp: Multifactorial NTD 741,80 Spinal Rachischisis 748.51 Pulmonary Hypoplasia 753,32 Horseshoe Kidney 751.01 Meckel's Diverticulum 747,5 Single Umbilical Artery 740.02 Anencephaly with... 759.11 Adrenal Hypoplasia No Developmental Anomalies in Parts Available For Examination Imp: Turner's Syndrome - 45, X Pulmonary Artery Hypoplasia Slight IUGR Pulmonary Valve Atresia R Ventricular Dilatation R Atrium Dilatation ASD, Secundum Type 744.88 1 Posterior Nuchal Edema 757.2 R Simian Crease 758.00 Imp: Down's Syndrome 755.50 Bilateral 5th Finger Clinodactyly Pulmonary Valve Dysplasia, (no natural pathway) PND of Gastroschisis not Confirmed Due to Fragmentation 759.7 Imp: MCA 748.58 Pulmonary Atresia of R Lung Encephalocele, vertex of cranium Significantly increased Acetyl Cholinesterase & AF Alpha Fetoprotein 762.28 Placenta Extrachorialis 762.60 Partially Tethered, focally edematous, short umbilical cord 752.48 Labial Cleft 746.88 Serosal Hemorrhages, Epicardium 762.8 Imp: Amnion Rupture Sequence 759.24 Serosal Hemorrhages, Thymus 753.88 Distended Bladder Minimal Scoliosis Omphalocele, containing Liver, Small Intestine & R colon 762.28 Placenta with Amniotic Bands 754.00 Asymmetrical Facies Significant Dorsal Subcutaneous Edema, Hands & Feet Imp: Turner's Syndrome - 45, X Mild Axillary Pterygia, Bilateral Hepatosplenomegaly Mild Choroamnionitis Incomplete Horizontal Fissure Formation of R Lung Aortic Preductal Tubular Hypoplasia Imp: Multifactorial NTD No Developmental Anomalies in parts available for examination PND of Lumbar Meningocele Not Confirmed Due To Fragmentation PND of Ventriculomegaly and possible Arnold Chiari Maffn not Confirmed Due to Fragmentation 754.01 Potters Facies 753.69 Distal Urethral Stenosis 753.88 ? Megacystis 753.29 Hydroureternephrosis 788.5 Oligouria 754.73 Bilateral Club Feet 4-7 days retention following IUD Appendix III Autopsy Findings 166 Method Amniotic EGA at Narrow Diagnosis: ofTA Fluid Termination Code: Pulmonary Hypoplasia S * 3 749.22 Club Feet 5 * 3 753.16 Small Cystic Structure Resembling a Kidney 5 * 3 747.5 Single Umbilical Artery 5 * 3 751.23 Vesicorectal Fistula 5 * 3 757.8 Cubital + Popliteal Pterygia 5 * 3 751.23 Imperforate Anus 5 * 3 749.22 Cleft Palate 5* 3 759.7 Imp: MCA, cannot be sure of particular syndrome - A.R. Inheritance 8 758.20 Imp: Trisomy 18 Syndrome B 754.00 Dysmorphic Face with Small Mandible B 759.04 Accessory Spleen 6 746.88 Polyvavular Dysplasia of Tricuspid and Aortic Valves 8 744.00 Abnormal Ears with Atretic Ear Canals 8 754.73 Bilateral Club Feet 8 742.42 Bilateral Choroid Plexus Cysts 8 747.41 Persistent L Vena Cava 8 755.50 Bilateral 5th Finger Clinodactyly 8 746.02 Bicuspid Pulmonary Valve 6 745.49 VSD 8 756.18 Hemivertebrae, Throacic 8 756.30 11 Ribs 8 756.61 L Diaphragmatic Hemia 8 757.2 Simian Crease R Hand 8 + 3 747.19 Coarctation of Aorta 8 + 3 758.10 Imp: Trisomy 13 Syndrome 8 + 3 749.21 Bilateral Cleft Palate 8 * 3 755.00 Postaxial Polydactyly, L Hand 8 * 3 749.21 Bilateral Cleft Lip 8 * 3 751.64 Distended Gallbladder 8 * 3 746.4 Unicuspid Aortic Valve 8 • 3 745.48 VSD, Perimembranous 8 + 3 755.00 Hexadactyty, R Hand 2- 13 wks, 79 days 758.00 Imp: Down's Syndrome 2- 13 wks. 79 days Scant Fetal Tissues Identified 6 759.19 Discoid Adrenal Glands 6 753.88 Hypoplastic Bladder 6 748.18 Flattened Nose :6 605 Phimosis 762.28 Multiple Foci of Villus Congestion 744.24 Low Set Posteriorly Rotated Ears 754.01 Wizened Face 759.24 Multiple Serosal Petechiae Over Epicardium of Thymus 754.01 Potter's Facies 753.00 Bilateral Renal Agenesis 759.04 Accessory Spleen X2 743.63 Prominent Epicanthal Folds Preaxial Polydactyly - R Hand No Intact Internal Organs Found Imp: Trisomy 13 Syndrome 1 Day Retention following IUD Blood Tinged Peritoneal Effusions Blood Tinged Pleural Effusions 764.9 Severe Asymmetrical Intrauterine Growth Retardation 762.20 Small Marginal Villus Infarct 762.28 Small Placental Disk 760,0 Imp: Attributable to Gestational Hypertension or HELLP Syndrome & CPM Trisomy 18 Terminally Associated Multifocal Petechial Hemorrhages, Cerebrum, Brainstem, Cerebellum Blood Tinged Pericardial Effusions 753,29 Bilateral Hydroureter 753.88 Dilatation of Bladder 753.16 Bilateral Cystic Kidneys 752.52 Cryptoorchidism 756.79 Attenuation of Abdominal Musculature 756.72 Imp: Prune Belly Syndrome or Urethral Obstruction with Posterior Urethral Valves 753.69 Possible Urethral Obstruction 756.79 Deficient Inferior Abdominal Wall 75123 Anal Atresia 762.68 Dilated Umbilical Ring 752.68 Absent External Genitalia Appendix III Autopsy Findings 167 Method Amniotic EGA at Narrow Diagnosis: of TA Fluid Termination Code: Colovesicle Fistula Internal Phallic Structure Segmentation Abnormalites involving L3 and L4 vertebrae Urethral Atresia 753,29 Hydroureter R side 756.71 Imp: Urethral Obstruction Sequence (Prune Belly Sequence) 747.0 Large Ductus Arteriosus 753,32 Horseshoe Kidney 753.29 R Sided Hydrouretemephrosis 21 • 1/2 759.11 Adrenal Hypoplasia 21 • 1/2 756.08 Marked Frontal Blossing 746,3 Bicuspid Asymmetric Aortic Vatve 756.08 Deep Nasal Bridge 21 * 1/2 750.27 Puckered Lips 21 * 1/2 746.88 Large Dilated R Atrium 747.10 Preductal Narrowing of the Aortic Arch 748.51 Pulmonary Hypoplasia 789.5 Abdominal Ascites 511.9 Bilateral Pleural Effusions 776.5 Generalized Edema Bilateral Cystic Hygroma Imp: Turner's Syndrome Deep Palpebral Fissures Retention for an unknown number of days 744,24 Low Set Ears 745.51 Large ASD, Secundum 764,9 Marked IUGR 762.28 Small, Noncystic Placenta 748.18 Beak-Like Nose 758.58 Imp: Triploidy 756.08 Relative Head Sparing 749.09 Posterior Cleft Palate 524 0 Micrognathia 20-21 755,oo 3/4 Syndactyly L Hand 20-21 755.19 2/3 Syndactyly, Feet, Bilaterally 759.11 Adrenal Hypoplasia 20-21 748.51 Pulmonary Hypoplasia 20-21 744.24 Low Set Ears 757.2 R Sidney Crease, R Hand No Developmental Abnormalities in Intact Parts 758.00 Imp: Down's Syndrome PND of Hydrops not confirmed due to fragmentation PND of Cystic Hygroma not confirmed due to fragmentation 762.28 Immature Placental Tissue 778,5 Subcutaneous Edema 758,60 Imp: Turner's Syndrome PND of Ventriculomegaly not confirmed due to fragmentation 755.34 Aplasia Great Toes 756 16 Hemivertebrae L2/3 742.26 Semilobar Holoprosencephaly 748 69 L Lung Isomerism 751 72 Annular Pancreas 759.04 Small Accessory Spleens, (2 small spleens) 745 51 ASD, Secundum Type 747 21 Aortic Hypoplasia 74548 VSD, Perimembranous 755 50 Aplasia 5th Ray Bilaterally Hands 751,24 Anal Atresia 756 15 T4/5 Fusion 755.50 Short Terminal Phalanges 755 24 Aplasia Thumbs 748.18 Flat Nasal Bridge 749.09 Posterior Cleft Palate 758 58 Imp: 46, XX, - 13, + der(13). t(12;13) 753 oo Renal Hypoplasia No Other Developmental Abnormalities 746.1 Dysplastic Tricuspid Valve 755.50 Bilateral 5th Finger Clinodactyly 756,00 Imp; Down's Syndrome - 47, XY, + 21 744.68 Minimal Nuchal Thickening * 6G.P.. 19 dates 746.6 Endocardial DiverticuD of Mitral Valves + 6G.P., 19 dates 745.63 Form Fruste of AV Canal Appendix III Autopsy Findings 168 Amniotic EGA at Narrow Diagnosis: Fluid Termination Code: 15 - 6 G.P.. 19 dates 755.19 Syndactyly of 3rd & 4th Fingers, R Hand 15*6GP.. 19dates 758.58 Imp: Triploidy 15*6 GP.. 19 dates 747.26 D extra rotation of Aorta 15 * 6 GP.. 19 dates 746.1 Endocardial Diverticuli of Tricuspid Valves 15* 6G.P., 19 dates 759.11 Adrenal Hypoplasia 15 + 6 G.P.. 19 dates 745.48 VSD, small perimembranous 23 * 1/2 755.20 Absence of Upper Limbs 23 * 1/2 Selective Termination by Cord Occlusion 23 + 1/2 Retention for 4 + 1/2 weeks 23 + 1/2 754 4i Short Curved Tibia 23+ 1/2 762 30 Chorangiopagus Parasiticus Twinning Anomaly 23 * 1/2 762.30 Imp: TRAP - Twin Reversed Arterial Perfusion Sequence 23 + 1/2 755 34 Abn Feet with 3 Abnormal Digits, 2 of which appear long and narrow and 1 broadened and perhaps fused 746.88 Pulmonary Valve Dysplasia 758.20 Imp: Trisomy 18 Syndrome 755.50 Right 4th Finger Clinodactyly 745 48 VSD, Perimembranous 755.50 Bilateral 5th Finger Clinodactyly 748.51 Pulmonary Hypoplasia 762.8 Amnium Nodusum 754.59 Equinovarus Deformity - L Foot 524.0 Micrognathia - Oligohydramnios Sequence 753.88 Hypoplasia of Urinary Bladder 75340 Absence of Ureter 753,16 Cystic Dysplasia R Kidney 753 oi Probable Agenesis of L Kidney 753 38 Pelvic Malposition R Kidney No Developmental Abnormalities in Intact Parts 758 58 Imp: CPM, Trisomy 18 PND of Cystic Hygroma not Identified Due to Fragmentation 758 oo Imp: Down's Syndrome 755 50 Bilateral 5th Finger Clinodactyly 2 1 19(G.P). 21 (dates) 757,2 Probably Bilateral Simian Crease 2 1 19{G.P), 21 (dates) 753.32 Horseshoe Kidney 2 1 19 (G.P.), 21 (dates) 748.58 Shallow Lesser Fissure R and Absent Greater Fissure L Lung 2 1 19 (GP.}, 21 (dates) 754.73 Club Feet 2 1 19 (G.P.), 21 (dates) 759.08 Small Spleen 2 1 19 (G.P.). 21 (dates) 751.49 Malrotation of Intestines 2 1 19(G.P.). 21 (dates) 748.51 Hypoplasia of Lungs 2 1 19 (G.P.). 21 (dates) 740.02 Anencephaly 2 1 19 (G.P.), 21 (dates) 759.11 Hypoplasia of Adrenals 2 4 22 748.51 Hypoplasia of Lungs 2 4 22 753.40 Ureter Agenesis 2 4 22 753.80 Bladder Agenesis 2 4 22 753.00 Bilateral Renal Agenesis 2 4 22 754.82 Thoracic Hypoplasia 2 4 22 759,24 Early involution and Congestion of Thymus 2 4 22 762,28 Immature placenta with Mild Funisitis 2 4 22 Stomach Present and Normal 2 4 22 762.28 Focal Decidual Necrosis 2 4 22 754.4 Bowing of Long Extremities 2 4 22 757.8 Mild Pterygia of Upper Extremities 2 4 22 754.50 Bilateral Talipes Equinovarus 2 17*4 747.19 Coarctation of the Aorta 2 17 * 4 746.3 Bicuspid Aortic Valve 2 17-4 747,41 Persistent L Superior Vena Cava 2 17*4 753,32 Horseshoe Kidney 2 17 + 4 758.60 Imp: Turner's Syndrome 2 17 + 4 No cystic hygroma is identified (PND not confirmed) 34 16 + 5 752.48 Bifid Genitalia 34 16 + 5 746.1 Dysplastic Tricuspid Valves 34 16 + 5 754,73 Bilateral Club Feet 34 16 + 5 751.24 Anal Atresia 34 16 + 5 759,89 Imp: Possible Cloacal Exstrophy/OEIS Syndrome 34 16 + 5 756,18 Abnormal Vertebral Column 1 16 + 1/2 744.88 Flat Facies 1 16 + 1/2 749,09 Posterior Cleft Palate 2 t 16 + 1/2 748.51 Small Lungs 2 1 16 * 1/2 228.1 Cystic Hygroma Appendix III Autopsy Findings 169 MetTiod Amniotic EGA at Narrow Diagnosis: of TA Fluid Termination Code; 16* 1/3 778.0 Fetal Hydrops 16 * 1/2 756.43 ? Generalized Osteochondral Dysplasia 746 os Bicuspid Pulmonary Valve 756.18 Hemivertebrae 753.40 Absent Ureters 752.45 Large Clitoris 751 10 Duodenal Atresia 758.19 Imp: Ring 13 Syndrome 748.58 Abnormal Lung Development 753 oo Hypoplastic Kidneys 751.24 Imperforate Anus 755.19 Syndactyly Toes and Metacarples 755.24 Absent R Thumb & Hypoplastic L Thumb 740.02 Anencephaly (Merocrania) 758.58 Imp: Confined Placental Mosaicism No Developmental Abnormalities PND of Ventriculomegaly not confirmed due to Fragmentation 758.20 Imp: Trisomy 18 Syndrome No Developmental Abnormalities PND of Abd. Wall Defect not confirmed due to Fragmentation 746 7 Imp: Hypoplastic L Heart Syndrome 746 7 Hypoplastic Left Heart No other developmental abnormalities 740.02 Fragmented skull suggestive of Anencephaly No other developmental abnormalities Imp: Incomplete Exam (Done in Seattle) 755.34 Absence of R Great Toe 755.38 Congenital Absence of R Tibia 755.34 Absence of R 1st Metatarsal Imp: Multifactorial NTD 740.02 Anencephaly (Merocrania) 759.11 Adrenal Hypoplasia 4 19(G.P.). 26 (dates) 755.50 Clinodactyly of 5th Finger of L Hand 4 19(G.P.). 26 (dates) 759.24 Hypoplasia of Thymus 4 19(G.P). 26 (dates) 747.5 2 Vessel Cord 4 19 (G.P.). 26 (dates) 789.9 Retention Cyst Lined by Squamous Epithelium, Located between posterior uterine wall and rectum 4 19{G.P.).26 (dates) 742.20 Asymmetry of Cerebral Hemispheres with Failure of Development of Deep Cerebral nuclei 4 19 {G.P.J. 26 (dates) 748.51 Hypoplasia of Lungs 4 19(G.P.}, 26 (dates) 764.9 Severe IUGR 4 19 {G.P.J, 26 (dates) 753.20 Hydronephrosis L Side 4 19{G.P.), 26 (dates) 753.29 Hydroureter L Side 4 19 (G.P.J. 26 (dates) 754.70 Bilateral Club Feet 4 19 {G.P.J. 26 (dates) 758.58 Imp: Triploidy 4 19 {G.P.J. 26 (dates) 755.19 Syndactyly btwn 3rd + 4th Fingers, Bilaterally 4 19{G.P.J. 26 (dates) 756.08 Relative Macrocephaly 4 19 {G.P.J. 26 (dates) 524.0 Micrognathia 4 19 (G.P.). 26 (dates) 759.11 Hypoplasia of Adrenal 4 19 (G.P.). 26 (dates) 753.00 Hypoplasia of Kidneys 4 19(G.P.J. 26 (dates) 745.49 VSD 19 758.00 Imp: Down's Syndrome 19 756.08 Flat Nasal Bridge 19 756 08 Flat Occiput 19 753.00 Renal Hypoplasia 19 748.51 Pulmonary Hypoplasia 19 745.63 AV Canal Defect 19 755.50 Bilateral 5th Finger Clinodactyly 19 755.25 Shortening of Upper Limbs 15* 1/2 (17 dates} 753.00 Hypoplasia of Kidney 15+ 1/2 (17 dates) 751.62 Hypoplasia of Liver 15+ 1/2 (17 dates) 748.51 Severe Hypoplasia of Lungs 15+ 1/2 (17 dates} 749.10 Unilateral L Cleft Lip 15+ 1/2 (17 dates) 756 49 Skeletal Dysplasia Affecting Mainly Long Bones 15+ 1/2 (17 dates) 228.1 Cystic Hygroma 15+ 1/2 (17 dates) 778.0 Severe Generalized Hydrops 10 758.00 Imp: Down's Syndrome 10 PND of Cystic Hygroma not confirmed due to Fragmentation 10 No Developmental Abnormalities 39109 Appendix III Autopsy Findings 170 Method Amniotic EGA at Narrow Diagnosis; o( TA Fluid Termination Coda: 757.2 Bilateral Simian Crease 755.50 Bilateral 5th Finger Clinodactyly 745.68 Partial Atrioventricular Canal Defect - Large Atrial Component, Smaller Ventricular Component 756.00 Imp: Down's Syndrome - 47, XY, + 21 744 88 Flat Face 750.18 Protruding Tongue 514 Bicuspid Pulmonary Edema 751.01 Meckels Diverticulum 745.58 ASD, Partial 778.5 Diffuse Subcutaneous Edema 755.50 Webbing of Hands Between Digits 758.20 Imp: Trisomy 18 Syndrome Head is damaged. Adrenal Hypoplasia Imp: Multifactorial NTD Anencephaly (holoacrania) 741.9 Cervical Rachtschisis 754.73 Bilateral Club Feet 759,24 Thymic Hyperplasia 756.30 Only 10 pairs of ribs Pulmonary Hypoplasia 753.16 Cystic Dysplasia of Kidney 752.9 Apparent Colovesicle Fusion (Bowel and Genital Systems Appear to End Blindly in Back of Urinary Bladder) 758.61 Imp: Mosaic Monosomy X & Possible Cloaca) Abnormality 745.50 Foramen Ovale 759,89 Features Suggestive of Cyclopia 758 10 Imp: Trisomy 13 Syndrome 747 21 Hypoplasia of Aortic Isthmus 747 5 Single Umbilical Artery PND of Omphalocele and CNS not confirmed due to fragmentation 746.4 Bicuspid Aortic Valve 745 48 VSD, Small Perimembranous Imp: Multifactorial NTD 741.94 Sacral Meningocele 758.00 Imp: Down's Syndrome 755.50 Bilateral 5th Finger Clinodactyly 756.08 Flat Occiput 751.01 Meckel's Diverticulum 758.00 Imp: Down's Syndrome PND of Cystic Hygroma not confirmed due to Fragmentation 748 51 Pulmonary Hypoplasia 745.51 ASD (Secundum Type) 755.50 Bilateral 5th Finger Clinodactyly 14 (GP.) 16 (dates) Suspect IUD, 2 wks retention 14 (GP.) 16(dates) Dilated Urinary Bladder 14 (GP.) 16(dates) Poximal Upper Limbs are Short, Shortenting of Long Bones 14 (GP.) 16 (dates) Short Lower Limbs seen Radiologically 14 (G.P.) 16 (dates) No Specific Diagnosis for Short Limbs 14 (G.P.) 16 (dates) Imp: MCA, No Specific Diagnosis 762.28 Imp: Primary Placental Abnormality, Stillbirth 761.2 Oligohydramnios Dysmorphism 752.60 Hypospadias 762.28 Hypoplastic Placenta with Poorly Developed Vessels 762.28 Marked Artherosis, Placenta 762,20 Infaction, Placenta 747.5 2 Vessel Cord 762.7 Chorioamnionitis 742 88 Bilateral Germinal Eminence Hemorrhage in Brain (Lateral Ventricles) 764 9 IUGR 758.58 Imp: Mosaic 46, XY, del (5), (p14.1) No Developmental Abnormalities 7475 Single Umbilical Artery No Other Externally Demonstrable Anomalies 553.1 Large Omphalocele Containing Liver, Small Bowel, Stomach and Spleen 553.1 Small Omphalocele 755.51 Abnormal Clenching of 4th & 5th Fingers 755.00 Left Postaxial Tag Appendix III Autopsy Findings 171 Code Method AjnmotJC EGA at Narrow Diagnosis: No: OITA Fluid Termi nation Code: 1 l 16 + 6 746.4 Asymmetrical Dysplastic Bicuspid Aortic Valve 1 1 16 * 6 758.12 Imp: 46, XY, -14, t(13q;14q), trisomy 13 39737 1 1 13 + 6 747.19 Coarctation of Aorta 1 1 13 + 6 758.61 Imp: 45, X fetus / 46, X, del(X)(p21) placenta 39788 1 4 16 753.88 Enlarged Urinary Bladder 1 4 16 759.7 Imp: MCA, Suggestive of Cloacal Dysgenesis/ Urorectal Septum Malformation Sequence I 4 16 756.18 Lumbosacral Spinal Arch Malformation 1 4 16 753.69 Urethral Obstruction 1 4 16 754.73 Bilateral Club Feet 1 4 16 751.23 Anal/Rectal Agenesis, Possible Rectovesical communication 39 794 1 1 16 * 1/2 759.04 Accessory Spleen 1 1 16 • 1/2 744.81 Microstomia 1 1 16 + 1/2 751.01 Meckels Diverticulum 1 1 16 * 1/2 756.68 Agenesis of L Hemidiaphragm 1 1 16 * 1/2 746.7 Hypoplastic L Heart Syndrome 1 1 16 - 1/2 756.08 Hypotelorism 1 1 16 - 1/2 742.26 Alobar Holoprosencephaly 1 1 16+ 1/2 758.58 Imp: Chr. 18 Duplication Deficiency Syndrome 1 1 16 + 1/2 742.25 Cebocephaly 1 1 16 + 1/2 748.18 Single Nostril 39819 4 3 14 • 5 759,7 Imp: MCA, No Specific Diagnosis 4 3 14 + 5 Kidneys were not identified •> 3 14 • 5 No Developmental Anomalies 39905 1 2 20 No Kidneys or Adrenals Identified 1 2 20 No Developmental Abnormalities in Intact Parts 1 2 20 759.7 Imp: IUGR and Oligohydramnios due to possible renal malformation 39930 1 1 16 553.1 Omphalocele 1 1 16 No other Developmental Abnormalities 1 1 16 747.5 Single Umbilical Arteries 39931 4 1 10+ 3(73 days) 753.16 Bilateral Cystic Dysplastic Kidneys 4 1 10 * 3(73 days) 755.00 Polydactyly, Post Axial Tag L Hand 4 1 10+ 3(73 days) 755,01 Duplicated Thumb R Hand 4 1 10+ 3(73 days) 755.02 Hexadactyly R, L Feet 4 1 10 + 3(73 days) 745.63 Large AV Canal Defect 4 t 10* 3(73 days) 746.1 Mildly Dysplastic Tricuspid Valve 4 1 10 + 3(73 days) 746 4 Mildly Dysplastic Aortic Valve 4 1 10 * 3(73 days) 759.69 Imp: MCA, Diff. Dx. Elejalde Syndrome or Polydactyly Obstructive Uropathy 4 1 10 + 3(73 days) 746.08 Mildly Dysplastic Pulmonary Valve 4 1 10 + 3(73 days) The structures of the neck and thorax could not be assessed. 39932 1 1 17 * 1 755.50 Bilateral 5th Finger Clinodactyly 1 1 17* 1 747.25 Overriding Aorta 1 1 17* 1 745 48 VSD, Large Perimembranous 1 1 17* 1 746.6 Mitral Vatve, Diaphanous and Redundant 1 1 17+1 746,1 Tricuspid Valve, Diaphanous + Redundant 1 1 17* 1 746.08 Pulmonary Atresia, Complete 1 1 17* 1 745.20 Tetralogy of Fallot 1 1 17* 1 758.58 Imp. 46, XX, -9, +der(9), t(9;18)(p24;q21) 39942 2 1 19* 4 748.58 Incomplete Fissure Formation of R Lung 2 1 19* 4 744,24 Low Set Ears 2 1 19 * 4 759.11 Hypoplasia of Adrenals 2 1 19-4 755,09 Bilateral Hexadactyly of Hands 2 1 19* 4 756.08 Broad Nasal Bridge 2 1 19 * 4 745.20 Tetralogy of Fallot 2 1 19 * 4 742.21 Absence of Corpus Callosum 2 1 19 * 4 758.56 Imp: 46, XY, der(10), t(7;10)(p21 :q13) 39955 2 1 15 - 12 756.34 Rib Anomalies 2 1 15+ 12 755,28 Short R Arm with Absent Randius and Radial Ray Anomaly 2 1 15+ 12 748.58 Imcomplete Lobation R Lung 2 1 15 + 12 748.58 Imcomplete Fissuring Lungs 2 1 15 + 12 756.18 Butterfly Shaped Vertebrae 2 1 15+ 12 762,8 Imp: Early Amnion Rupture Sequence 2 1 15+ 12 744.88 Bilateral Pterygium, Short Neck 2 1 15 + 12 750.25 Abnormal Hard Palate, Prominent Alveolar Ridge, Medial Groove in Hard Palate 2 1 15+ 12 748.18 Asymmetrically Shaped Nares 2 1 15 + 12 744,24 Low Set Ears 2 I 15 + 12 740.01 Absent Cranium 2 1 15 + 12 755,34 Partial Amputatuion of R Big Toe 2 1 15+ 12 756.15 Multiple Dysplastic Thoracic Vertebrae 4O103 Appendix III Autopsy Findings Coda Method Amniotic EGA at Narrow Diagnosis: No ofTA Fluid Termination Code: 751.10 Duodenal Atresis 754.01 Potters Faces 742.88 Germinal Eminence Hemorrhage 742.25 Polymicrogyria 742 48 Heterotrophic Grey Matter No Evidence of Toxoplasmosis 759 7 Imp: MCA 762 28 Placenta, Changes Associated With IUD, Fibrinoid Degeneration of Maternal Vessels No other Developmental Abnormalities 748 51 Lung Hypoplasia 758 58 Imp: 46, XY, del (14)(p32.1 -qter), IUD 7 days retention 5 4 34 (G.P.) 4 25 (dates) 747.21 Hypoplastic Aortic Arch 5 4 34 (G.P.) 4 25 (dates) 756.79 Absent Abdominal Wall Muscular 5 4 34 (G.P.) 4 25 (dates) 752.84 Absent Prostate 5 4 34 (G.P.) & 25 (dates) 744.24 Low Set Dysplastic Ears 5 4 34 (G P.) S 25 (dates) 744.91 Facial Dysmorphism 5 4 34 (G.P.) & 25 (dates) 759.89 Imp: Limb Body Wall Complex 5 4 34 (G.P.) S 25 (dates) 751.24 Imperforate Anus 5 4 34 (G.P.) 5 25 (dates) 753.29 Bilateral Hydroureter 5 4 34 (G.P.) S 25 (dates) 747.19 Coarctation of Aorta 5 4 34 (G.P.) a 25 (dates) 753.16 Bilateral Cystic Kidneys 5 4 34 (G.P.) a 25 (dates) 752.59 Absent Urethra 5 4 34 (G.P.) a 25 (dates) 752 85 Absent Definitive Penis 5 4 34 (G.P.) & 25 (dates) 747.5 2 Vessel Cord 5 4 34 {G.P.) 4 25 (dates) 753.20 L Hydronephrosis 5 4 34 (G.P.) 4 25 (dates) 752.80 Absent Gonads 5 4 34 (G P ) 4 25 (dates) 754.20 Severe Scoliosis 2 , 36 758.10 Imp: Trisomy 13 Syndrome 2 1 36 749.20 L Cleft Lip 2 1 36 757.39 Cutis Aplasia - Scalp 2 1 36 743.1 Bilateral Microopthalmia 2 1 36 742.28 Absent Olfactory Lobe 2 1 36 753.20 Bilateral Hydronephrosis 2 1 36 749.20 L Cleft Palate 2 1 36 745.51 ASD, Secundum Type 2 1 36 752.88 Ambiguous Genitalia 2 1 36 745.20 Tetralogy of Fallot Variant 2 1 36 553.1 Omphalocele 2 1 36 742.48 Cerebellar Heterotopias 2 1 36 751.01 Meckels Diverticulum 3 5 28 756.18 Segmentation Anomalies of Sacn. 3 5 28 747.5 Single Umbilical Artery 3 5 28 745.20 Tetralogy of Fallot 3 5 28 753.01 L Renal Agenesis 3 5 28 755.24 Absent Thumb, R Hand 3 5 28 755.26 Radial Aplasia 3 5 28 749.20 R Cleft Palate 3 5 28 749.20 R Cleft Lip 3 5 28 759.89 Imp: MCA, Diff. Dx. Fanconi's Par 3 5 28 748.30 Posterior Laryngeal Cleft 4 ! 15 758.20 Imp: Trisomy 16 Syndrome 4 1 15 746.88 Polyvalvular Dysplasia 4 1 15 745.48 VSD, Perimembraneous 746.88 Polyvalvular Dysplasia 755 51 Overlapping Fingers 2nd & 5th over 3rd & 4th 758 20 Imp: Trisomy 18 Syndrome 755 02 Polydactyly & Ectrodactyly L Foot 755.50 Oligodactyly or Ectrodactyly with 3 digits L hand PND of Omphalocele not confirmed due to fragmentation 759.7 Imp: MCA No other Developmental Abnormalities 740.02 Damaged Head Suggestive of Anencephaly Imp: Multifactorial NTD 758.60 Imp: Turner Syndrome 778.5 Dorsal Edema, Hands and Feet 747.38 Hypoplastic Pulmonary Trunk 746 88 L Ventricle Hypertrophy 746.00 Pulmonary Atresia 746.1 Tricuspid Dysplasia Appendix III Autopsy Findings 173 Method Amniotic EGA at Narrow Diagnosis: ofTA Fluid Termination Code: 746.88 R Atrium Dilatation 746,2 Ebstein's Anomaly of the Heart 18 • 1/2 758.10 Imp: Trisomy 13 Syndrome 16 * 1/2 751.49 Malrotation of Gut 16 * 1/2 748.10 Absent Nose 16 * 1/2 756.08 Midline Clefting 16 * 1/2 756.08 Hypotelorism 16 * 1/2 742.26 Holoprosencephaly 16 • 1/2 742.25 Cebocephaly 16 + 1/2 755.00 Postaxial Polydactyly, Hands, Bilateral 16 * 1/2 745.20 Tetralogy of Fallot 764.9 IUGR 17 • 1/2 742.58 Periventricular Leukomalacia 17 • 1/2 756.90 Reduced Muscle Bulk, All Extremities 17 + 1/2 744,88 Short Neck 17- 1/2 744.91 Craniofacial Dysmorphism 17 + 1/2 756.08 Hypertelorism, Mild 17 * 1/2 748.18 Flat Nose 17 • 1/2 744.24 Low Set Dysplastic Ears 17 + 1/2 524.0 Microretrognathia 17 * 1/2 Cleft Palate Borderline IUGR 754.20 Scoliosis 17 * 1/2 748,51 Pulmonary Hypoplasia 17 + 1/2 Imp: Fetal Akinesia Seq. consist'nt c Pena Shokier, Multi. Pterygium, or Arthrogryposis Multiplex Congenita 17 + 1/2 Arthrogryposis, Generalized 17 + 1/2 757.8 Mutiple Pterygia, Anterior Axillae Antecubital 17 • 1/2 778.5 Generalized Edema, Slight 755.00 Postaxial Tags - Hands 755.02 Bilateral Hexadactyly - Feet 758.10 Imp: Trisomy 13 Syndrome Limb Positional Deformaties (Oligo. Seq.) Wizened Faces (Oligohydramnios Sequence) Bilateral Germinal Eminence Hemorrhage 753.16 Multicystic Dysplastic Horseshoe Kidney 745.59 ASD + 5 G.P.. 14 dates No other Developmental Abnormalities * 5 G.P., 14 dates Imp: Trisomy 18 Syndrome 2 4 24 (G.P.) 26 (dates) 762.8 Amnion Nodosum, Minimal 2 4 24 (G.P.) 26 (dates) 762.28 Decidual Necrosis, Deciduitis and Thrombosis 2 4 24 (G.P.) 26 (dates) 748.51 Immature Lungs (Oligohydramnios Sequence) 2 4 24 (G.P.) 26 (dates) 752,86 Enlarged Penis 2 4 24 (G.P.) 26 (dates) 753,88 Urinary Bladder, smooth and skeletal muscle hypoplasia 2 4 24 (G.P.) 26 (dates) 753.88 Bladder Dilation 2 4 24 (G.P.) 26 (dates) 753,29 Hydroureter 2 4 24 (G.P.) 26 (dates) 753,16 Cystic Dysplasia of Kidneys 2 24 (G.P.) 26 (dates) 752.88 Prostatic Aplasia with Patent Urethra 2 2 21 • 1/2 753.79 Hypoplastic Urachal Bladder 2 2 21 * 1/2 754.73 Bilateral Club Feet 2 2 21 • 1/2 754,01 Mild Potters Facies 2 2 21 * 1/2 753.00 Bilateral Renal Agenesis 2 , 24 748.58 Bilateral Bi-Lobed Lungs 2 1 24 759.30 Dextrocardia 2 1 24 746.88 Juxtaposition of Atrial Appendages 2 1 24 747,48 Bilateral Venae Cavae 2 1 24 759.39 Situs Inversus - Stomach and Spleen Right Sided 2 1 24 751.49 Malrotation of Bowel 2 1 24 759,11 Adrenal Hypoplasia 2 1 24 753,29 Hydroureters, Mild, Bilateral 2 1 24 746.00 Atresia of Pulmonic Valve 2 1 24 745 48 VSD, Muscular 2 1 24 745.1 Hypoplasia + Dysplasia of Tricuspid Valves 2 1 24 746.88 Hypoplasia of R Ventricle 2 1 24 747,0 R Ductus Arteriosus 2 1 24 745.51 ASD, Secundum 2 1 24 759,7 Imp: Possibly Hydrolethalus, MCA 2 1 24 742,39 Hydrocephalus 2 1 24 745.10 Transposition of Grt. Vessels 2 1 24 747.23 R Aortic Arch PND of Polydactyly not confirmed due to mild frag, of postaxial aspect of Hands Appendix III Autopsy Findings 174 Method Arnniooe EGA at Narrow Diagnosis: of TA Fluid Termination Code: 758.10 Imp: Trisomy 13 Syndrome 759.89 Cyclopia 756.08 Proboscis 741.98 Lumbosacral Spina Bifida 747.5 Single Umbilical Artery Bilateral Ctub Foot CNS Not Assessable 758,10 Imp: Suggestive of Trisomy 13 Syndrome 749,09 Cleft Palate PND of U/S findings not confirmed due to fragmentation 759.7 Imp: MCA 749.20 R Cleft Palate 747.19 Coarctation of Aorta 747.21 Tubular Hypoplasia of Aortic Isthmus 749.20 R Cleft Lip 75122 Blind Ending Colon 752.48 Prominent Phallic Structures 756.34 Bifid Lower Thoracic Rib - Bilateral 754.59 Bilateral Equinovarus Foot Deformaties 759.18 Fused Adrenal Glands 75241 Vaginal Atresia 751,23 Anal Atresia 753.69 Urethral Atresia 753.29 Megalocystis with Bilateral Hydroureter 759.89 Imp: Cloacal Dysgenesis Sequence 757.2 Bilateral Simian Crease 759.7 Imp: MCA, Specific Etiology Is Not Known 754.76 Dorsal Flexion, L Foot 19* 1/2 742.39 Thin Cerebral Cortex Consistent With Ventriculomegaly 19 * 1/2 754,78 Bilateral Prominence of Heels PND of Clubbed Feet not confirmed due to fragmentation Dorsalipedal Edema PND of Cystic Hygroma not confirmed due to fragmentation 753,20 Hydronephrosis 758,50 Imp: Turners Syndrome 744 88 Short Neck 744,24 Low Set Ears 758.20 Imp: Trisomy 18 Syndrome 751 49 Malposition of Appendix 755.51 Flexion with Overlapping Fingers 750.28 Small Mouth 553.1 Possible Small Omphalocele 751.01 Meckels Diverticulum 746.88 Polyvalvular Dysplasia 746.08 Bicuspid Pulmonic Vatve 746.6 Dysplasia of Mitral Vatve 746 4 Dysplasia of Aortic Vatve 746.1 Dysplasia of Tricuspid Vatve 745.48 VSD, Perimembranous 746.88 Hypertrophy R Ventricle 746.88 Hypertrophy R Atrium 524.0 Micrognathia 756.08 Frontal Bossing 754.82 Narrow Chest 743 1 Microphthalmia Single Palmar Crease No other Developmental Abnormalities 755.50 Mild Bilateral 5th Finger Clinodactyly 758.70 Imp: Klienfelters Syndrome Imp: Possible Chromosome Anomaly 747 5 Single Umbilical Artery 751 ot Meckel's Diverticulum PND not confirmed due to fragmentation Simian Crease, R Hand Scant Organs found are submitted for Histology No Abnormalities are Found in the Intact Parts 758.00 Imp: Down's Syndrome 755.50 5th Finger Clinodactyly R Hand PND of Diaphragmatic Hemia not confirmed due to Fragmentation Appendix III Autopsy Findings Method Amniotic EGA at Narrow Diagnosis: o(TA Fluid Termination Coda: 745.20 Tetralogy of Fallot 755.51 Abn Finger Flexion, L hand 755.02 Polysyndactyly R 5th Toe 758.10 Imp: Trisomy 13 Syndrome 755 oo Postaxiat Polydactyly L Hand Absent Hippocampus with Migration Disorder Frontal Blossing with Large Skull Shrortened Proximal Portions of Upper and Lower Limbs ? Disordered Ossification Hypospadias 748.51 Pulmonic Hypoplasia with a Narrow Chest 755.19 Bilateral Syndactyly, R & L Hands 759.11 Hypoplasia of Adrenal Glands 758 58 Imp: Digynic Triploidy 755.08 Head Disproportionately Large 754 88 Shrunken Trunk 755.08 Hypertelorism 748.18 Pointed Tip of Nose 750 28 Short Phittrum 755.19 Syndactyly of Toes, L -1, 2, 3, 4, R - all toes 753.00 Hypoplastic Kidneys 511.9 Bilateral Pleural Effusions 748.58 Abn. Lobation of Lungs 762.28 Placenta Small for Gestational Age 755.19 Syndactyly of Fingers, L - 2nd S 3rd, R - 2nd, 3rd, & 4th 778.0 Imp: Non-immune Hydrops Fetalis 755.52 Wrists are Narrow 755.62 Ankles are Narrow 755.64 Valgus Deformatiy, Knees 757.2 Longitudinal Skin Crease L Arm 757.8 Antecubital Pterygia 755.50 Small Thumbs 755.50 Finger Webbing 511.9 Large Pleural Effusions 778.0 Hydrops Fetalis, Severe Extensive 764.9 IUGR 762.28 Placenta - Villus Edema 744 24 Low Set Ears 756.08 Flat Nasal Bridge 755 51 Flattened and Broad Dysmorphic Hands 754 78 Flattened and Broad Dysmorphic Feet 744 91 Antimongoidal Slant, Eyes 755.08 Bossed Forehead 762 8 Funisitis, early 762 7 Chorioamnionitis 753 38 Anterior Rotation of Hilum, R Kidney 748 51 Pulmonary Hypoplasia 748 18 Single Nasal Choana, patent 746.88 Enlarged, Dilated R Atrium 745 51 ASD, secundum 742.26 Holoprosencephaly with old infarction microscopic in area adjacent to thalamus 762.20 Area of Infarction invorving 10% of Placental Parenchyma 762 28 Abn Placenta with Green Discoloration of Membranes 742.1 Microcephaly 744 88 Short Neck 758 10 Imp: Trisomy 13 Syndrome Retention for > 1 wk 755.00 Bilateral, Postaxial Polydactyly, Hands 756.08 Hypotelorism 754.78 Prominent Heel Pads 744.24 Low Set Ears Low-Placed Pinnae 764.9 IUGR 758.20 Imp: Trisomy 18 Syndrome 768.0 Intrauterine Fetal Distress, Acute InterviDus Hemorrhages, Placenta 758,29 Chr. Analysis, Chorion 47, XY, + 18, Cytotrophoblast 200-30% Diploid, 70-80% Triplold 757.68 Widely Placed Nipples 756.02 Hypertelorism 741.01 Beaking of the Tectum 749,20 Left Cleft Lip 553.1 Omphalocele, ruptured Left Cleft Palate Cardiac Anomalies - Dr. Taylor dissection ... Meningocele and Chiari Type II Malformation Appendix III Autopsy Findings 176 Method Amniotic EGA at Narrow Diagnosis: ofTA Fluid Terminal) on Code: 751.49 Intestinal Malrotation 768.0 Intrauterine Fetal Distress, Aspiration Amniotic Fluid Squalmes, Lung 756.08 Large Anterior Fontanelle 759.11 Hypoplastic Adrenal Gland 751.78 Fusion Pancreatic Tale and Spleen 753.32 Horseshoe Kidney 754.50 Equinovarus Anomalies, Legs 755.51 Overlapping Digits, Hands 12* 2 755 01 Preaxial Tags, Bilateral, Hands 12 • 2 746 88 Polyvalvular Dysplasia 12-2 745.49 VSD 12 * 2 746.6 Mitral Atresia 12 * 2 747.23 R Aortic Arch 12 + 2 747.21 Tubular Hypoplasia of Aortic Arch 12 + 2 747 4i Persistent L Vena Cava 12 + 2 753.88 Dilated Bladder 12+ 2 755.26 Radial Agenesis 12 + 2 7475 2 Vessel Cord 12 + 2 758 20 Imp: Trisomy 18 Syndrome 12 + 2 PND of Cystic Hygroma not confirmed due to Fragmentation 747.5 2 Vessel Cord 755.50 Unilateral 5th Finger Clinodactyly 12 - 1/2 745.48 VSD, small perimembranous 12 * 1/2 747.21 Preductal Tubular Hypoplasia of the Aorta Because of the severe damage the cervical region of the fetus cannot be examined. Imp: Down's Syndrome Incomplete Autopsy (Leg Only) 22 - 23 wks PND of Hydrocephalus not confirmed due to fragmentation 22- 23 wks Imp: Multifactorial NTD 22 - 23 wks Lumbosacral Meningocele No Developmental Abnormalities 758.00 Imp: Down's Syndrome 749 21 Bilateral Cleft Lip 743 48 Bilateral Peripapillary Colobomata 749 21 Bilateral Cleft Palate 759.7 Imp: MCA PND of Holoprosencephaly Not Confirmed Due To Fragmentation 758.00 Imp: Down's Syndrome 748 51 Pulmonary Hypoplasia 754.50 Bilateral Equinovarus Deformaties of Feet 755.50 Bilateral 5th Finger Clinodactyly 553.1 Omphalocele Sac Identified No other Developmental Abnormalities R Ventricular Hypertrophy 746.01 Pulmonic Stenosis 747.26 Overriding Aorta 756.18 Hemi vertebrae 753.00 Bilateral Renal Agenesis 755.50 Clinodactyly 748.51 Pulmonary Hypoplasia 745 49 VSD PND of ventriculomegaly not confirmed due to fragmentation Imp: Unexplained IUD 762.68 Long Hyrtl Anastomosis of Umbilical Cord 758.00 Imp: Down's Syndrome 756.08 Flat Occiput 757.2 Bilateral Simian Crease 748.51 Mild Pulmonary Hypoplasia by Weight 755.50 Bilateral 5th Finger Clinodactyly 759.7 Imp: Developmental Field Defect Involving the Caudal Blastoma of the Embryo PND of Cystic Hygroma Not Confirmed due to fragmentation 778.5 Mild Edema on Dorsum of Feet 753.16 Cystic Kidney, Right Side 751.24 Anal Atresia 745.48 VSD, Large Subaortic 746.6 Mitral Vatve Atresia Appendix III Autopsy Findings 177 EGA at Narrow Diagnosis: Termination Code: 15 • 2 746.1 Dysplastic Tricuspid Valve 15 * 2 746.88 Hypoplastic L Ventricle 15 * 2 747.41 Persistent I Superior Vena Cava 15 - 2 746.4 Dysplastic Aortic Varve 15* 2 746.01 Subpulmonic Stenosis 15-2 758.29 Imp: 46, XX, idic(18)(p11.3) 15 • 2 745.11 Double Outlet R Ventricle 15 * 2 747.5 2 Vessel Cord 20-21 762.8 Placental Membranes Attached Directly to the Skull 20-21 740.02 Appearance of Fetus was Similar to that of an Anencephalic Fetus 20-21 756.08 Asymmetric L Facial Cleft 20-21 759.11 Adrenal Gland Hypoplasia 20-21 755.24 Amputation of 3rd Finger 20-21 762.8 Imp: Amnion Disruption Sequence 16 • 5 752.88 Bifid External Genitalia 16 + 5 753 88 Hemibladders 16 + 5 553.1 Large Omphalocele 16 + 5 751.24 Anal Atresia 16 + 5 762.60 Short Umbilical Cord 16 + 5 754.20 Scoliosis 16 + 5 759.89 Possibly OEIS - Omphalocele, Exstrophy, Imperforate Anus and Spina Bifida 16-5 753.20 Dilated Renal Pelvis L Kidney 16 * 5 747.5 Single Umbilical Artery 16 + 5 751.88 Interposition of Colonic Mucosa 13-3 553.1 Omphalocele 13 + 3 758.10 Imp: Trisomy 13 Syndrome 13 - 3 749.20 Right Cleft Lip 13 + 3 749.20 Right Cleft Palate 17 • 1 PND of Cystic Hygroma not confirmed due to fragmentation 17 + 1 755.19 Ectrodactyly - 2/3 Syndactyly, L Hand 17+ 1 755.24 Imp: May Represent Ecterodactyly Ectodermal Dysplasia/CL/CP/Syndrome 17 + 1 No other Developmental Abnormalities 17+ 1 755.24 Missing 3rd Digit R Hand 28 G.P. 32-33 dates 746.88 Antenatal Obstruction of Foramen Ovale 28 G.P. 32-33 dates 747.5 Single Umbilical Artery 28 G.P. 32-33 dates 762.28 Meconium Pigmentation, Histocytes, Placental Membranes, indicative of fetal stress 28 G.P. 32-33 dates 746.7 Imp: Hypoplastic L Heart Syndrome 2B G.P 32-33 dates 747.19 Coarctation of Aorta 28 G.P. 32-33 dates 746.88 Hypoplasia of Left Ventricle 28 G.P. 32-33 dates 746 4 Bicuspid Aortic Valve 28 G P. 32-33 dales 746.88 Hypoplasia of Left Atrium 28 G.P. 32-33 dates 746.6 Atresia of Mitral Varve 28 G.P. 32-33 dates 745.48 VSD, Muscular 28 G.P. 32-33 dates 745.48 VSD, Perimembranous 17 753.00 Bilateral Renal Agenesis, no renal tissue identified 17 745.48 VSD, Perimembranous 18 • 1 755.88 ? Generalized Decreased Ossification 18 + 1 755.88 Multiple Fractures and Deformaties of Long Bones 18 • 1 Abnormal Procollagen Studies Consistent with O.I. (likely type II) 756.88 1 18 + 1 756 34 Multiple Fractures and Deformaties of Ribs 19 758.70 47, XXY Syndrome (Klinefelters Syndrome) 19 755.50 Bilateral 5th Finger Clinodactyly 18 + 5 758.00 Imp; Down's Syndrome 18 + 5 755.50 Bilateral 5th Finger Clinodactyly 18*5 757.2 L Simian Crease 18 744.88 Mild Nuchal Edema 18 756.08 Flat Occiput 18 758.00 Imp: Down's Syndrome 18 753.20 Mild Dilatation of Renal Pelves 18 755.50 Bilateral 5th Finger Clinodactyly 18 757.2 Bilateral Simian Creases 20 + 2 741.03 Hydrocephalus 20 + 2 754.50 Talipes Equinovarus 20 * 2 Dandy Walker Malformation Not Found 20 + 2 Imp: Multifactorial NTD 20 + 2 741.01 Chiari Type II Malformations 20 • 2 741.01 Meningocle, Thoraco-Lumbar 41214 Appendix III Autopsy Findings 178 Method Amniotic EGA at Narrow Diagnosis: of TA Fluid Termination Code: PND of Cystic Hygroma not confirmed due to fragmentation 758.00 Imp: Down's Syndrome 778.5 Mild Edema 757.2 Bilateral Simian Crease 755.50 Bilateral 5th Finger Clinodactyly 758.00 Imp: Down's Syndrome 15+ 2 755.58 Hypoplastic Clavicles 15+ 2 7578 Multiple Pterygia in Axilla, Anticubital, Popliteal & Neck Area 15+ 2 749.09 Cleft Palate 15+ 2 742.58 ? Dimyelia (probable) 15+ 2 755.19 Soft Tissue Syndactyly all Toes 15+ 2 755,19 Soft Tissue Syndactyly all Fingers 15+ 2 226 i Posterior Cervical Hygroma 15' 2 764 9 IUGR '15+ 2 759,89 Imp: Multiple Pterygium Syndrome 15* 2 748.58 Incomplete Fissure Formation on Both Lungs No Developmental Abnormalities PND of Hydrops not confirmed 778.0 Imp: Fetal Hydrops, Specific Etiology Not Identified, (10% R.R.) 778.0 Imp: Fetal Hydrops, Specific Etiology Not Identified, (10% R.R.) PND not confirmed due to fragmentation 22-23 762.8 Imp: Amnion Disruption Sequence 22-23 742 48 Asymmetry of Tentorium Cerebelli 22-23 742,48 Absence of Fabt Cerebri 22-23 743 8 L Eye not Formed in the Face 22-23 748.18 Single Nostril 22-23 750.28 3 Clefts in the Mouth and a Grove in the Palate with one of the Left Clefts 755.50 Bilateral 5th Finger Clinodactyly 759.7 Imp: MCA with Distant Consanguinity 754.73 Bilateral Clubbed Feet 553.1 Omphalocele, Large 755.50 Clinodactyly of 5th Finger, Bilateral 751.49 Malrotation of Small Bowel Anencephaly Craniorachischisis, Failure of Closure 2,4 and 1 17* 1/2 Cervical Retroflexion 17 + 1/2 757.8 Pterygia - Anterior, Axilliary, Inguinal 17 * 1/2 755.50 5th Finger Clinodactyly, Bilateral 17 + 1/2 747,21 Tubular Hypoplasia of Aortic Arch 17 + 1/2 747,5 Single Umbilical Artery 17 + 1/2 553,1 Omphalocele 17 + 1/2 748.58 Abnormal Lobation of Lungs 17 + 1/2 748.51 Pulmonary Hypoplasia 17 + 1/2 Imp: Multifactorial NTD 758.61 Generalized Mosaicism Involving Fetus and Placenta 747.21 Mild Preductal Tubular Hypoplasia of Aorta 758.61 Imp: Mosaic Turner's Syndrome No Developmental Anomalies in Parts Available Imp: U/S Identified MCA, R/O Balanced Chr. Translocation In Parents 762.28 Circumvallate Placenta No Developmental Abnormalities PND of Gastroschisis not confirmed due to fragmentation 741.01 Large Meningomyelocele (thoracic to sacral) 741,01 Chiari It Malformation Imp: Multifactorial NTD 754.59 Varus Deformity of Feet 741.01 Ventriculomegaly 741.03 Hydrocephalus 742.52 Diastematomyelia 741.03 Thora co-Lumbar NTD Imp: Multifactorial NTD Arenal Hypoplasia Discordance Between Head and Trunk Asymmetric Growth Retardation Pulmonary Hypoplasia Appendix III Autopsy Findings 179 Code Method Amniotic EGA at Narrow Diagnosis: No: of TA Fluid Termination Code: Mildly Dysmorphic Face - Prominent Nose, Recessed Mandible Imp: Severe Oligohyd. & Growth Retardation with no cause found 758.00 Imp: Down's Sydrome 757.2 Bilateral Simian Crease 745 20 Tetralogy of Fallot 74549 VSD 746.02 Pulmanoary Vatve Discordance 758.00 Imp: Twin A Downs Syndrome, Twin B Normal - Spontaneous Loss of Twin B 755.50 Mild 5th Finger Clinodactyly - Twin A 771,29 Multifocal Bacterial Proliferation, Gram Pos. Cocci - Twin A 762,52 True Knot in Umbilical Cord - Twin B 771.29 Ascending Infection - Twin B 771.29 Fetal Vasculitis Placental Surface, Gram Neg. - Twin B 753,88 Hypoplastic Bladder 752.48 Aplastic Upper Vagina Hypoplastic Ureters Abnormal Elongate Ovaries 753.00 Bilateral Renal Agenesis 752.19 Hypoplastic Fallopian Tubes 755.51 Bilateral Camptodactyly, 2nd & 5th overlapping 3rd & 4th No other Developmental Abnormalities PND of Diaphragmatic Hemia not confirmed due to fragmentation 746.6 Mitral Valve Atresia 749.09 Bilateral Cleft Palate 745.11 Double Outlet R Ventricle 746.01 Pulmonary Valve Stenosis 745 49 VSD 746.88 Hypoplastic L Ventricle 759 89 Imp: Suggestive of Velocardio-Facial Syndrome or DiGeorge Syndrome 746 4 Hypoplasia of Aortic Artery 758,60 Imp: Turner Syndrome, Sp.Vag.Del. (D&E Planned) 746 88 Hypoplastic L Ventricle 753 32 Horseshoe Kidney 748.51 Pulmonary Hypoplasia 511.9 Bilateral Pleural Effusions 747.21 Hypoplastic Aortic Arch 778.5 Generalized Edema 778 o Hydrops Fetalis 228.1 Cystic Hygroma 778,o Ascites 751.49 Malrotation of the Gl System 755.51 Bilateral 2 Finger Overlapping - 3rd & 5th overlapping 4th 741.01 Hydrocephalus 741.01 Sacromeningomyelocele 741.01 Chiari II Matformation 755.88 Short Upper and Lower Limbs 756.79 Protuberant Abdomen 754,82 Narrow Chest 756.0B Large Head Displaying Frontal Blossing 756.34 Shortened Ribs 754 4 Bowing of Femus, Radii and Ulnae 745 6 Mitral Vatve Atresia 745 48 VSD, Subaortic 758 10 Imp: Trisomy 13 Syndrome 757 3i R hand Postaxial Skin Tag 746.88 Cortriatriatum Sinister 745.11 Double Outlet R Ventricle 753 34 Kidneys and Adrenals are Large by Weight 3 17 2. (19 +4 dates) 746,02 Quadricuspid Pulmonary Vatve 3 17 2. (19 +4 dates) 764.9 IUGR 3 17 2. (19 +4 dates) 759.11 Adrenal Hypoplasia 3 17 2. (19 +4 dates) 758.58 Imp: Triploidy 3 17 2.(19 + 4 dates) 745.49 ASD 3 17 2.(19 + 4 dates) 744.91 Dysmorphic Facial Features 3 17 2.(19 + 4 dates) 748.51 Pulmonary Hypoplasia 3 17 2. (19 * 4 dates) 753.32 Renal Extopia of Horseshoe Kidney 3 17 2. (19 * 4 dates} 753.00 Renal Hypoplasia 3 17 2. (19 +4 dates) 755.50 Bilateral Dysmorphic Fingers 3 17 2.(19 + 4 dates) 746,6 Mitral Valve, Endocardial Diverticulum Appendix III Autopsy Findings 180 Code Method Amniotic EGA at Narrow Diagnosis: No: o( TA Fluid Termination Code: Imp: U/S Identification of Cystic Hygroma PND of Cystic Hygroma Not Confirmed Due to Fragmentation No Developmental Anomalies were Identified in the Fetal Tissues 759.B9 Imp: Asplenia Syndrome 759,oe Absence of Spleen 745 59 ASD 753 oi Absence of Kidney 747.19 Aortic Arch Coarctation 747.5 Single Umbilical Artery 746.88 Hypoplasia of L Ventricle 753,48 Abnormal Distal Portion of R Ureter with Obst. of Lumen (Dupl. below & Dilation Above Obs.) 753.20 Obstructive Hydronephrosis of R Kidney due to Distal Ureter Obst. 747.41 Persistent L Superior Vena Cava 747.21 Aortic Arch Isthmus Hypoplasia 746.3 Aortic Valve Subaortic Stenosis 746 e Mitral Valve Atresia 745.11 Double Outlet R Ventricle 745.51 ASD, Secundum Type 746.1 Dysplasia of Tricuspid Valve 753.20 Mild Hydropervis - Bilateral 755,50 Camptodactyly of 2nd Finger of R Hand PND of Ventriclomegally not confirmed Flat Nasal bridge 758.58 Imp: 46, XY, del(6)(p25) 744.24 Low Posterior Rotated Ears Possible Cerebellar Vermis Hypertelorism 740.02 Anencephaly Imp: Multifactorial NTD No other Developmental Abnormalities 756 17 Sacrococcygeal Teratoma 762,20 Large Placental Subchorionic Hematoma Imp: Spontaneous Abortion 748.51 Hypoplasia of Lungs 778,5 Soft Tissue Edema, Diffuse 746.88 ? Pericardial Effusions (Pericardium) 778 o Imp: Fetal Hydrops Fetalis, no specific cause 778 o Ascites in peritoneal Cavities 749 07 Cleft Soft Palate 511.9 Bilateral Pleural Effusions, Cavities 762,28 Edema of Placenta 22-23 228.1 Posterior Cervical Hygroma ? 22-23 755.50 L Hand 5th Finger Clinodactyly 22-23 758.58 Imp: 46, XY, der(18), t(11;18) 22-23 753.16 L Kidney Focal Cortical Cystic Dysplasia 754.73 Bilateral Club Feet 17 • 1/2 Hemiverteberae 17 • 1/2 746.4 Dysplastic Aortic Cusps 17 • 1/2 748.33 Tracheal Agenesis 17 + 1/2 745,48 VSD, Perimembranous 751,01 Meckels Diverticulum 751.24 Imperforate Anus 750.13 Esopageal-Carinal Fistula 748,30 Small Laryngeal Pouch 17 + 1/2 756.34 11 ribs 17 * 1/2 756.08 Cephalomegaly Imp: 46, XY, t(2;12) (q13;p11.2) De novo Balanced Reciprocal Translocations No Developmental Abnormalities 511.9 Bilateral Pleural Effusions No Other Developmental Anomalies 762.7 Chorioamnionitls with Fetal Vasculitis and Funisitis indicative of ascending infection 752.84 Deficient Development of Prostatic Tissue 748.51 Pulmonary Hypoplasia 778.0 Ascites 753 16 Cystic Dysplastic R Kidney 753,38 Diminished Renal Parenchyma L Kidney 753.29 Bilateral Hydroureter Appendix III Autopsy Findings 181 Mathod Amniotic EGA at Narrow Diagnosis: ot TA Fluid Termination Coda: 753.20 Bilateral Hydropetvis Imp: Multifactorial NTD 74002 Anencephaly 740.02 Merocrania (NT Type 2 Closure Defect) Tubular Hypoplasia of Aortic Isthmus Left Ventricular Dysplasia Dysplasia of Pulmonary Vatve 746.4 Dysplasia of Aortic Vatve 745.63 AV Canal Defect 553.1 Omphalocele 754.73 Bilateral Club Feet 748.53 Imcomplete Lobation of Lungs 756.14 Absence of Vertebral Bodies Cervical Area 749.09 Cleft Palate 758.02 Imp: Trisomy 18 Syndrome 744.88 Nuchal Edema Dysmorphic Facial Features Syndactyly, 2nd & 3rd Toes, L Foot 740 i Imp: Craniorachischisis 740.1 NTD closure defect involving 2, 4 and 1 740.1 Craniorachischisis 745.49 VSD 745.51 ASD, Secundum Type 746 88 Polyvalvular Dysplasia - Aortic, Pulmonary & Tricuspid 746 7 Hypoplastic L Ventricle 747.21 Mild Tubular Hypoplasia of Ascending Aorta 746.7 Imp: Complex Hypoplastic Left Heart Syndrome, cannot rule out A.R. Inheritance 778.0 Hydrops Fetalis 228.1 Cystic Hygroma 747.5 Single Umbilical Artery 757.2 Bilateral Simian Crease 758.00 Imp: Down's Syndrome 758.00 Imp: Down's Syndrome No Developmental Abnormalities 761 3 Polyhydramnios 762 30 Twin to Twin Transfusion (clinical) Placenta - disrupted making a morphological diagnosis of twin to twin transfusion impossible 762 30 Imp: Twin to Twin Transfusion with Polyhydramnios Induced Spontaneous Labour 762 30 Marked Cord Discrepancy 759.30 Situs Inversus, both twins Hemorrhage and Congestion of Viscera 743.6 Prominent Eyes 747.26 Overriding Aorta 745.20 Tetralogy of Fallot Variant 755.19 Bilateral Syndactyly, Hands 754.82 Narrow Chest 756 08 Increased Head Size 764 9 IUGR 758.58 Imp: Triploidy 745.51 ASD, Secundum Type 755.19 Bilateral Syndactyly, Feet 762.28 Hypertensive Decidual Vascular Vessels 747.38 Pulmonary Artery Hypoplasia 746.88 R Ventricular Hypertrophy 745 49 VSD 746.88 Dilated R Atrium 753.16 Cystic Dysplastic L Kidney 747.5 2 Vessel Cord 762.7 Mod. Chorionamnitis 762.28 Mod. Deciduitis 746.00 Pulmonary Vatve Atresia PND not confirmed due to fragmentation No other Developmental Anomalies 751 01 Meckels Diverticulum 749.29 Cleft Palate 758 10 Imp: Trisomy 13 Syndrome 749.29 Cleft Lip 758 20 Imp: Trisomy 18 Syndrome, 47, XX, + 18 Appendix III Autopsy Findings Code Method Amniotic EGA at Narrow Diagnosis: No: of TA Fluid Termination Code: 754.73 Bilateral Clubbed Feet 745 48 VSD, Perimembranous 747.5 Single Umbilical Artery 748.51 Pulmonary Hypoplasia 759.84 Imp: Sirenomelia Sequence 746.86 Cardiomegaly 753.38 Sigmoid Agenesis 751.24 Anorectal Agenesis 759 84 Sirenomelia Sequence, Single Abn. Midline Limb 753 Urogenital Agenesis, Absent Kidney, Bladder, Genitalia and Gonads 16 - 1/2 758.10 Imp: Trisomy 13 Syndrome 16 * 1/2 PND of Nuchal Cystic Hygroma not confirmed due to fragmentation 16 * 1/2 755.00 Bilateral Postaxial Polydactyly of Hands 16 * 1/2 755.02 Postaxial Polydactyly of L Foot 16 • 1/2 745.20 Tetralogy of Fallot 16 + 1/2 752.48 Dysplastic External Genitalia 75101 Meckels Diverticulum Imp: Multifactorial NTD 740 02 Neural Tube Closure Type 2 Defect 745.51 ASD, Secundum Type 755.50 Bilateral 5th Finger Clinodactyly 740.02 Anencephaly (Merocrania) Kyphoscoliosis of Thoracic Vertebrae Single Fused Kidney Hirsutism 754.73 R Club Foot 740.2 Iniencephaly 744.91 Sriort Forehead. Flat Occiput. Shalow Ortital Ridges, inner Epicanthal Folds, Broad Nasal Bridge. Upslanting Palpebral Fissures 524.0 Micrognathia 759.7 Imp: MCA , Possible Chromosome Anomaly - (R.R. 5%) 744.88 Short Neck 756.30 9 Ribs 742.25 Poly microgyria 742.48 Lateral Ventricle Collapse 742.21 Absent Corpus Callosum 742.28 Absent Olfactory Lobe and Tract 553.1 Omphalocele 762.7 Chorionamnitis 744.24 Low Set Ears 762.7 Focal Villus Infection, Placenta 746.88 ? Petechial Hemorrhages on Heart Hypertrophic Grey Matter, Focal 753.20 L Hydronephrosis Imp: T13, T18, Meckel-Gruber, or Pseudo T13 Sydrome 748.51 Pulmonary Hypoplasia 742.00 Occipital Encephalocele 752.08 L Gonadal Agenesis 752.38 R Unicomuate Uterus 745.51 ASD, Secundum Type 747.21 Hypoplasia of Aortic Isthmus 553.1 Large Omphalocele 756 30 11 Ribs Redundant Nuchal Skin No other Developmental Abnormalities 778.5 Edema of Hands and Feet 228.1 Imp: Cystic Hygroma with Associated Btlat. Pleural Effusions - etiology is not known 755 09 Postaxial Polydactyly L Hand and L Foot 748.18 Abnormal Nose, (Holoprosencephaly ?) 758 io Imp: Trisomy 13 Syndrome 749.09 Cleft Palate PND of Heart Defect not confirmed due to fragmentation No Developmental Abnormalities In Intact Parts 758 4 Imp: Balanced Reciprocal Translocation Characteristic Hand Positioning Heart Exam Pending ??? 758.20 Imp: Trisomy 18 Syndrome 762.28 Immature Placental Tissue Atrioventricular Septal Defect Imp: Congenital Heart Defect Appendix III Autopsy Findings Method Amniotic EGA at Narrow Diagnosis: ofTA Fluid Termination Code: 750.28 Small Mouth 749.29 Cleft Palate 524.0 Micrognathia 744,24 Low Set Ears 746 4 Dysplastic Bicuspid Valves 747,21 Aortic Hypoplasia 745.48 VSD, Perimembranouss 758.20 Imp: Trisomy 18 Syndrome 749.29 Cleft Lip 758.00 Imp: Down's Syndrome 755.50 Bilateral 5th Finger Clinodactyly 757 2 Bilateral Simian Crease Heart Disection is Pending - Addendum Report wiD be released 753.00 Bilateral Renal Agenesis 748.51 Pulmonary Hypoplasia, (Oligohydramnios Sequalae) 755.88 Positional Deformity of Lower Limbs (Oligo. Sequalae) PND of NTD not confirmed due to fragmentation No Developmental Abnormalities Imp: Multifactorial NTD (antenatal finding) Head-Frontal Blossing Severe Platyspondyly 755.88 Short Long Bones 755,88 Physeal Disorganization Dysmaturation of Bones Short Ribs 778 0/742 Imp: Fetal Hydrops & Dandy Walker Malfn, Unknown Cause No Developmental Abnormalities in parts submitted for exam The head is separate and extensively damaged Imp: Multifactorial NTD 741,98 Meningomyelocele at the Lower Thoracic/Lumbar Vertebral Column 747.19 Aortic Coarctation 758,60 Imp: Turners Syndrome 778.5 Generalized Edema 228.1 Cystic Hygroma, Posterior Cervical Short and Irregular R Ulna 746.88 Polyvarvular Dysplasia 748.51 Pulmonary Hypoplasia 755.26 Absent R Radius 755.52 Bilateral Wrist Flexion 758.20 Imp: Trisomy 18 Syndrome 759.84 Imp: Possible Holt-Oram Syndrome or Radial Aplasia or Fanconi's Pancytopenia 747 41 Posterior L Superior Vena Cava 745 63 AV Canal Defect 759.84 Imp: Diff. Dx. Holt-Oram Syndrome or Fanconi's Pancytopenia Syndrome 755.58 Bilateral Handlebar Clavicles 755.28 Ulna slightly bowed and shortened 755,52 Radial Deviation of hands at wrists 755.26 Bilateral Absence of Radius and Thumbs 746 i Dysplastic Tricuspid Varve PND of Cystic Hygroma not confirmed due to fragmentation 747.41 Persistent L Superior Vena Cava 745 49 VSD 746.08 Oysplastic Pulmonary Varve 758.20 Imp: Trisomy 18 Syndrome 746 4 Bicuspid Aortic Valve 748.51 Mild Pulmonary Hypoplasia No other Developmental Abnormalities 754 20 Scoliosis 762.28 Abnormally Large Placenta 756 7i Gastroschisis 764 9 IUGR 756.71 Imp: Gastroschisis likely due to vascular disruption defect 17 • 1/2 758 09 Imp: Diff. Diagnosis of Trisomy 21 Syndrome 17 * 1/2 756.90 Transient Myeloproliferative Disorder 17 + 1/2 762.20 Placental Infarctions 17 <• 1/2 762.20 Increased Pervillous Fibrin (Borderline) Appendix III Autopsy Findings 184 Code Method Amniotic EGA at Narrow Diagnosis: No: o(TA Fluid Termination Code: 34 17 * 1/2 757.20 Simian Crease 34 17 + 1/2 754.01 Potters Fades (Oligo. Sequalae) 34 17 + 1/2 748.51 Pulmonary Hypoplasia (Oligo. Sequalae) 34 17* 1/2 755.50 5th Finger Clinodactyly 4 15- 18 G.P. 20 dates 778.5 Bulbous Edema of Extremities 4 15- 18 G.P. 20 dates 3 Days Retention Following IUD 4 15- 18 G.P. 20 dates 747.5 2 Vessel Umbilical Cord 4 15- 18 G.P. 20 dates 762,8 Increased syncytial Knotting 4 15- 18 G.P. 20 dates 778.0 Ascites 4 15- 18 G.P. 20 dates 758,69 Imp: Turner Syndrome Phenotype 4 15- 18 G.P. 20 dates 746.4 Bicuspid Aortic Vatve 4 15- 18 G.P. 20 dates 747.21 Tubular Hypoplasia of Aortic Arch 4 15- 18 G.P. 20 dates 762.28 Extensively Edematous Hypovascularized & Bulky Villi 4 15- 18 G.P. 20 dates 748,51 Pleural Effusion with Pulmonary Hypoplasia 4 15- 18 G.P. 20 dates 228.1 Cystic Hygroma of Posterior Neck " 15- 18 G.P, 20 dates 762,8 Increased Trophoblastic membrane Mineralization 2 16 752.08 Hypoplastic Ovaries 2 16 758.60 Imp: Turners Syndrome 2 18 778.5 Limb Edema 2 18 228.1 Cystic Hygromata 2 18 747.41 Persistent L Vena Cava 7 18 746.88 Polyvalvular Dysplasia , 20 745,11 R Double Outlet Ventricle 1 20 748.88 L Ventricle Hypoplasia 1 20 746.00 Atresia of Pulmonary Vatve 1 20 746.6 Atresia of Mitral Vatve 1 20 745.49 VSD 1 20 745.58 ASD 1 20 747 41 Persistent L Superior Vena Cava 1 20 746.88 Hypertrophy of R Ventricle 1 20 746.88 Hypertrophy of R Atrium 1 20 744,91 External Dysmorphic Features, Splayed Nasal Bridge 1 20 744.24 Low Set Posteriorly Rotated Ears 1 20 746 Imp: Complex Congenital Heart Disease 1 20 755,02 Accessory Great Toe 20 524.0 Micrognathia 15 1/2 756.32 Fused 1st and 2nd Ribs 1 15 1/2 Imp: Multifactorial NTD 1 15 1/2 740.1 Craniorachischisis 1 15 1/2 740.1 Neural Tube Closure 2, 4 and 1 Defect 1 15 1/2 759,11 Adrenocortical Hypoplasia ' 15 1/2 745 49 VSD 3 15 3 752.60 Hypospadias 3 15 3 752.88 Ambiguous Genitalia 3 15 3 758.58 Imp: Triploidy 3 15 3 553.1 Omphalocele 1 19 755.50 Bilateral Clinodactyly of 5th Finger 1 19 757.2 Bilateral Simian Creases 1 19 745.63 AV Canal Defect 1 19 758.00 Imp: Down's Syndrome 17*4 PND of Cerebellar Anomalies Not Confirmed Due To Fragmentation 17 + 4 Imp: U/S Identified Congenital Anomalies 17 + 4 PND of Cystic Hygroma Not Confirmed Due To Fragmentation 17 + 4 753.18 Renal Cortical Cysts 17 + 4 762,7 Diffuse Chorioamnlonitis 18*1/2 gp.i9+1/2 date 746.88 Hypoplastic L Ventricle 18+1/2 5P.19+1/2 date 747.5 Single Umbilical Artery 18+1/2 gp.19* 1/2 date 753.29 Hydroureter, Bilateral 18+1/2 op.i9* 1/2 date PND of Hydrocephalus Not Confirmed Due To Fragmentation 18+1/2 gp.19* 1/2 date 746,6 Mitral Atresia, membranous 18*1/2 DP.'9* 1/2 date 749 09 Cleft Palate, Posterior 18* 1/2 gp.19* 1/2 date 745.51 ASD, Large, Secundum (Common Atrium) 18+1/2 gp.19* 1/2 date 746 4 Aortic Atresia, membranous 18+1/2 gp.19* 1/2 date 745,60 Incomplete AVSD, Septum Primum Defect (AV Canal ?) 18+1/2 gp.19* 1/2 date 759,7 Imp: No Discrete Syndrome: Velocardiofacial/Hydrolethalus/Frynn Syndrome 18+1/2 gp.19* 1/2 date PND of NTD Not Confirmed Due To Fragmentation 18*1/2 gp,i9+1/2 date 753.29 Ectopic/Abnormal Urterocystic Junctions 18+1/2 gp.19+1/2 date 777.6 Meconium Peritonitis, Focal 18*1/2 gp.19+1/2 date 747,21 Tubular Hypoplasia of Ascending Aorta 18*1/2 gp.19* 1/2 date 746.08 Bicuspid Pulmonary Valve, Dysplastic ie*i/2gp,i9+l/2date 753,20 Hydronephrosis, Bilateral Appendix III Autopsy Findings 185 Method Amniotic EGA al Narrow Diagnosis: o(TA Fluid Termi nation Code: 758.00 Imp: Down's Syndrome - 47, XY, + 21 757.2 Bilateral Simian Creases 755.50 Bilateral 5th Finger Clinodactyly 25-26 (dates) 764.9 Probable Intrauterine Growth Retardation 25-26 (dates) 761,2 Oligohydramnios 25-26 (dates) Imp: Unknown Cause of IUGR 25-26 (dates) Cytomegalia - Myocardium 755.50 Bilateral 5th Finger Clinodactyly 741.01 Lumbosacral Myelomeningocele PND of Arnold Chiari not confirmed due to fragmentation Imp: Multifactorial NTD Imp: Down's Syndrome No Developmental Abnormalities 22-23 524.0 Micrognathia 22-23 740.29 Intnencephaly 22-23 742.1 Microcephaly 22-23 742.00 Occipital Encephalocele 22-23 741.90 Cervical Rachischisis 22-23 744.24 Low Set Ears 22-23 Imp: Likely Multifactorial NTD with Associated CHD ( 5% R.R.) 22-23 754.20 Thoracolumbar Scoliosis 22-23 T47.5 Single Umbilical Artery 22-23 745.59 ASD 22-23 745 49 VSD 22-23 751.49 Malrotation of Gl Tract 22-23 744.91 Dysmorphic Facial Features 2 5 23 742.46 Twin A Petechiae of Cerebral Cortex 2 5 23 759.24 Twin A Cortical Histoidcytosis of Thymus 2 5 23 762.30 Imp: Possible Twin to Twin Transfusion 2 5 23 751.20 Twin A Atresia of Descending Colon 2 5 23 759.18 Twin A Steatosis of Cortex of Adrenal Gland 2 5 23 756.88 Twin A Early Hyaline Membrane Disease 2 5 23 762.30 Twin A Artery to Artery Anastomoses 2 5 23 762.28 Twin A Villus Edema 2 5 23 553.1 Twin B Omphalocele with Herniated Liver, Stomach 2 5 23 759.24 Twin B Cortical Histocytosis of Thymus 2 5 23 759.18 Twin B Steatosis of Fetal Cortex of Adrenal Gland 2 5 23 762.30 Twin B Artery to Artery Anastomoses 2 5 23 762.28 Twin B Villus Edema 2 5 23 762.8 Twin B Deciduitis 1 1 12 + 5 758.02 46, XX, -14, +t<14q;21q) No Developmental Abnormalities 762.28 Immature Placental Tissues 758,02 Imp: Translocation Down's Syndrome 748.30 Laryngeal Atresia without Fistula 751.58 Abnormally Positioned Anus 748,51 Pulmonary Hyperplasia 752.82 Leydig Cefl Hyperplasia - Testies 747.5 Single Umbilical Artery 762.60 Short Umbilical Cord 762.28 Large Placenta 754.01 Oligohydramnios Dysmorphic Features 754.20 Scoliosis with multiple vertebral anomalies 759 89 Imp: Variation in VATER Association 762.28 Chorionic Villus Edema 756 00 Coronal Synostosis L 754.73 Bilateral Clubbed Feet 762.8 Amnion Nodosum 752.88 Abn Positioning of Scrotum and Penis 753.16 Cystic Dysplasia L Kidney 753.01 Renal Atresia R 756.17 Hypoplastic Sacrum 746 88 Single Corpus Cavemosus, Heart 751.01 Meckel's Diverticulum 753.21 Uretral Stenosis, L 753 69 Meatal Atresia 751 67 Paucity of Interhepatic Bile Ducts, Liver 759.18 Increased Fetal Zone - Adrenal Gland 745.51 ASD, Secundum 751.78 Islet hyperplasia - Pancreas, Endocrine Gland Hyperplasia 43008 Appendix III Autopsy Findings 186 Method Amniotic EGA at Narrow Diagnosis: ot TA Fluid Termination Code: 753.13 Polycystic Kidneys 751.62 Mild Ductal Plate Malformation of the Liver 754.01 Oligohydramnios Type Facies 22-23 No other Developmental Abnormalities 22-23 Unusual Type of Anencephaly (Encephaly) 22-23 Adrenal Hypoplasia 22-23 Imp: Multifactorial NTD 757.2 Simian Crease 758.00 Imp: Down's Syndrome 755.50 R Clinodactyly of 5th Finger 35 wks 751.10 Duodenal Atresia 35 wks 758.00 Imp: Down's Syndrome 35 wks 748 88 Desqualmated Squalmes in Distal Airways 35 wks 759.04 Small Accessory Spleen 20 754.73 Bilateral Clubbed Feet 20 753.13 Polycystic Kidneys 20 759.87 Possible Zeerweger Syndrome 23 758.70 Klinefelters Syndrome 23 No Recognizable Developmental Abnormalities 19+5 c.p.. 20+5 Dates 748.18 Facial Dysmorphism with Flat Nasal Bridge 19 + 5 G.P., 20+5 Dates 744 23 Facial Dysmorphism with Simple Square Ears 19 + 5 G P.. 20 + 5 Dates 758.00 Imp: Down's Syndrome - 47, XX, + 21 19*5 GP.. 20 + 5 Dates 745.63 AV Canal Defect 15 753.88 Distended Urinary Bladder 15 No Obvious Urethral Obstruction Was Identified 15 759.7 Imp: MCA - No Known Etiology 15 754.73 Bilateral Clubbed Feet 15 753.28 Mild Bilateral Hydroureters 15 511.9 Bilateral Pleural Effusions 15 778 o Fetal Hydrops 15 228 1 Cystic Hygroma 15 778 o Imp: Fetal Hydrops - Unknown Etiology 746.6 Dysplastic Parachute Mitral Varve 16 * 1/2 746.08 Dysplastic Bicuspid Pulmonary Varve 15 * 1/2 746.1 Dysplastic Tricuspid Valve 16* 1/2 745.48 VSD, Perimembranous 16+ 1/2 764.9 IUGR 16 + 1/2 747.5 Single Umbilical Artery 16 + 1/2 745.20 Tetralogy of Fallot 15 * 1/2 755.51 Abnormal Finger Positioning 553.1 Omphalocele 758.20 Imp: Trisomy 18 Syndrome 746 4 Dysplastic Bicuspid Aortic Varve with Distal Displacement of Coronary Ostia 16 + 1/2. 19 + 1/2 dates 764.9 Twin A - IUGR 16 + 1/2, 19 + 1/2 dates Twin B - IUD 3 weeks retention 16 + 1/2, 19 + 1/2 dates 754.20 Twin A - Thro a co lumbar Scoliosis 16 + 1/2. 19 +1/2 dates 553.1 Twin A - Omphalocele 16 + 1/2. 19 + 1/2 dates 756.79 Twin A - Cloacal Exstrophy 16 + 1/2. 19 + 1/2 dates 759.89 Imp: Twin A - Cloacal Dysgenesis Sequence, Twin B - IUD 16 + 1/2. 19 + 1/2 dates Twin B - All organs histologically OK 17 + 2 755.50 Abnormal Flexion of the 4th Finger, Bilateral 17 + 2 754 4 The Limbs are Markedly Short With Abnormal Bowing of the Forearm and Lower Legs 19 740.1 Cranial Rachlschisis 19 Imp: Multifactorial NTD 19 754.22 Cervical Retroflexion 745.49 VSD 753.32 Horseshoe Kidney 744.23 Dysmorphic Ears 758.20 Imp: Trisomy 18 Syndrome 755.51 Dysmorphic Hands 756.08 Hypertelorism 757.2 Bilateral Simian Crease 758.00 Imp: Downs Syndrome No Developmental Abnormalities Appendix III Autopsy Findings 187 Method Amniotic EGA at Narrow Diagnosis: ofTA Fluid Termination Code: ' 758.00 Imp: Down's Syndrome Lumbosacral Meningomyelocele PND of Arnold Chiari Malf. not confirmed due to fragmentation Imp: Multifactorial NTD 18 - 1/2 No Developmental Abnormalites 18 + 1/2 Unable to confirm PND of U/S detected Omphalocele 747 41 Persistent L Superior Vena Cava 746.88 R Ventricular Hypertrophy 746.7 Hypoplastic L Heart 746.4 Aortic Atresia 746 86 Endocardial Fibroelastosis, L Ventricle 758.60 Imp: Turner's Syndrome Separate damaged head... there is no edema in the fragments identified No Congenital Malformations Imp: Normally Developed Male Fetus 22-23 755.00 Postaxial Polydactyly - Hands, Bilateral 22-23 759.82 Imp: A.R. Cond. ? Chondroectodermal Dysplasia or Short Rib Polydactyly Synd's (Nonspecific Diag.) 22-23 755.88 Skeletal Dysplasia - Abn. Short and Abn. Shaped Lower Limbs 22-23 755.88 Abnormal Physeal Growth Zone 14 746.88 Twin A-Tiny L Auricle 14 746.88 Twin A - Redundant Foramen Ovale 14 745.11 Twin A - Double Outlet R Ventricle 14 745 3 Twin A - Univentricular Heart with Abn Rotation of Grt. Vessels 14 759.49 Twin A - Evidence of Conjoined Twinning (2 stomachs adj. to liver) 14 759.49 Twin B - Evidence of Conjoined Twinning 14 746.88 Twin A - Juxtaposition of Atria 20 747.26 Overriding Aorta 20 746 88 R and L Ventricle Hypertrophy 20 747.38 Pulmonary Artery Hypoplasia 20 762.7 Acute Chorioamnionitis 20 759.21 Cystic Changes in Thyroid 20 751.62 Focal Nodular Calcification of Liver 20 746.08 Pulmonary Vave Atresia with Blind Ending Musculan Infandibulum 20 746.88 R Atrial Hypertrophy 20 745.20 Tetralogy of Fallot 20 749.29 Cleft Palate 20 749.29 Cleft Lip 20 746.08 Pulmonary Valve Atresia 20 758.10 Imp: Trisomy 13 Syndrome 20 745 48 VSD, Perimembranous 20 759.18 Neuroblasts Rests with the Cortex of the Adrenal Glands 20 755.51 Hypoplastic L Hand 20 756.80 Imp: Poland Syndrome (not confirmed) 30 Imp: No Congenital Malformations, Intrauterine Asphyxia 30 742.88 Intracranial Hemorrhage secondary to asphyxia IUD, retention for 5 days No Developmental Abnormalities Intrauterine Asphyxia Imp: Intrauterine Demise 752.48 Ambiguous External Genitalia IUD, 2 wks retention or IUGR 753.16 Multicystic Dysplastic Kidney 752.39 Uterine Hypoplasia 748 5i Pulmonary Hypoplasia 752 41 Vaginal Atresia 751 24 Anal Atresia 752 48 Ambiguous External Genitalia 759 89 Imp: Cloacal Dysgenesis 756 71 Gastroschisis No significant developmental abnormalities 755 51 Mild Finger Overlapping 758.58 Imp: Unbalance Translocation t(18;22) 755.50 Bilateral 5th Finger Clinodactyly 742.39 Hydrocephalus 742.39 Thinning of Cortical Mantle Appendix III Autopsy Findings 188 Code Method Amniotic EGA at Narrow Diagnosis: No: olTA Fluid Termination Code: 756.00 Imp: Trisomy 18 Syndrome 745.48 VSD, Large Perimembranous 746.88 Polyvalvular Dysplasia Head is very damaged and contains no brain tissue. 758.00 Imp: Down's Syndrome No Developmental Abnormalities No Developmental Abnormalities PND of Holoprosencephaly not confirmed due to fragmentation 742.26 U/S Identification of Alobar Holoprosencephaly 15-16. 16-19(dates) 755 26 L Radial Aplasia 15- 16. 18-19 (dates) 754.73 Bilateral Club Feet 15- 16. 18-19 (dates) 755.24 Bilateral Aplasia of Thumb 15- 16. 18-19 (dates) 758.20 Imp: Trisomy 18 Syndrome 15- 16. 18-19 (dates) 747.5 Single Umbilical Artery 758.00 Imp: Down's Syndrome 755.50 Bilateral 5th Finger Clinodactyly 757.20 L Simian Crease 745.59 ASD 746.51 Pulmonary Hypoplasia 758 oo Imp: Down's Syndrome No Developmental Abnormalities 778.5 Edema of Hands and Feet 753.33 Ectopic L Kidney 747.5 Single Umbilical Artery 746 88 Enlarged R Atrium 746.4 Bicuspid Aortic Valve 758.60 Imp: Turner's Syndrome 746.88 Enlarged R Ventricle 747.21 Tubular Hypoplasia of Aortic Isthmus The head is severely fragmented & contains no brain tissue. The catvaria are partially denuded of skin. 20- 21 G.P.. 29 dates Both Kidneys and Ureters are Present 20-21G.P.. 29 dates 759.18 Adrenal Steatosis 20 - 21 G.P., 29 dates Imp: Placental Abnormalities 20-21 G.P.. 29dates 764,9 Intrauterine Growth Malformations 20 - 21 G P , 29 dates 762 28 Small Placenta with large infarct involving approximately 20% of placenta 20-21 G.P.. 29 dates 762 28 Advanced Villus Maturation 20-21 G.P., 29 dates 762 28 Lymphohistiocystic Villus, Diffuse, Moderate in Severity 20 - 21 G.P., 29 dates 762 28 Chorionic Vessel Thrombi, Focal, Nontnclusive 20-21 G.P, 29 dates 762 68 Velamentous, Insertion of Cord 20 - 21 G P . 29 dates Asphyxial Changes with Aspiration of Amniotic Fluid 20 - 21 G.P.. 29 dates 759 24 Stress Response with Thymic Cortical Histocytosis 20 - 21 G p.. 29 dates IUD with 3-4 days retention 20 - 21 G P.. 29 dates Restricted Autopsy - No Brain Examination Allowed 752.82 Dysplastic Semineferous Tubules, Dev. Focal 759.89 Imp: Possibly Noonan Syndrome 757.2 Single Palmer Crease, L hand 744,88 Nuchal Swelling, not consistent with cystic hygroma 759.18 Neuroblastic Rests of Cortex of Adrenal Gland PND of Femur Hypoplasia not confirmed due to fragmentation Retention 2 days following KCI injection 762.28 Placenta with poorly vascularied edematus villi 755,50 Bilateral 5th Finger Clinodactyly No other Developmental Abnormalities 758.00 Imp: Down's Syndrome 778 5 Subcutaneous Edema 755,50 Bilateral Clinodactyly of 5th Finger 745,62 Atrioventricular Septal Defect, Complete 762,28 Immature Placental Tissue 758.00 Imp: Down's Syndrome 755.50 Unilateral 5th finger Clinodactyly 19 • 1/2 Microophthalmia 19 * 1/2 755,00 Postaxial Polydactyly 754.73 Bilateral Club Feet 756.18 Lower Spine Defect 745.20 Tetralogy of Fallot 743.9 Ocular Anomalies 758.10 Imp: Trisomy 13 Syndrome Appendix III Autopsy Findings Method Amniotic EGA at Narrow Diagnosis: of TA Fluid Termination Code: 753.16 Multicystic Dysplastic Kidney 755.50 5th Finger Clinodactyly of L Hand 745.62 Complete Atrioventricular Septal Defect 228.1/746 Imp: Cystic Hygroma and CHD 759 48 Omphalogous Conjoined Twins 762.68 5 Vessel Umbilical Cord 755.50 Bilateral 5th Finger Clinodactyly 20 - 1/2. 24 (dates) Imp: Cytomegalovirus Infection 20 + 1/2. 24 (dates) Cytomegalovirus Infection in a variety of organs 20 * 1/2, 24 (dates) No Developmental Abnormalities 20 * 1/2. 24 (dates) 3 -4 wks retention or IUGR Agenesis of L Kidney Termination Related Germinal Eminence Hemorrhage Skin Tag on Face, L Side Small L Ventricle L Ventricular Hypertrophy 753.16 Multicystic Dysplastic R Kidney 753.00 Renal Adysptasia Imp: Brachio-Oto-Renal Syndrome Tubular Hypoplasia of Aortic Varve 748.51 Pulmonary Hypoplasia (Oligohydramnios Sequalae) 753.16 Multicystic Dysplastic Kidney 524 o Micrognathia 753 40 Ureter not identified 759.7 Imp: MCA, Consanguinity 749.29 Bilateral Cleft Lip 749 29 Bilateral Cleft Palate Intrauterine Fetal Demise around the time of CVS, 2 wks retention No other Developmental Abnormalities The extensive damage to the fetus precludes confirmation of the cystic hygroma seen at U/S. Distended Abdomen 759.11 Hypoplastic L Adrenal Gland 21 - 22 762.7 Early Ascending Infection, Placenta (Perivillositis and Aspirated Neutropils) 21 - 22 742.39 Cervical Dilatation Did not eBow For Intact Debvery ot the CeiVanum but a lair amount or fluid was released from the head sug of hydroceph 753.00 Renal Adysplasia Imp: Renal Adysplasia with Mayer-Rokitansky-Kuster Anomaly Absent R Kidney Vaginal Atresia 21 - 22 Cystic Dysplastic L Kidney 21-22 Microcystis Unicomuate Uterus 752 86 Hypoplastic Penis 75188 Hepatosplenomegaly 778 o Hydrops Fetalis 511.9 Pleural Effusions 746.88 Pericardial Effusions 748.51 Pulmonary Hypoplasia 746.86 Cardiomegaly 282.40 Imp: Alpha Thalassemia (Hemoglobin Barts -/- genotype) 19 • 1/2 758 58 47, XY, + inv dup 15 (q12) 19 • 1/2 759.04 Small Accessory Spleen No other Developmental Abnormalities 778.5 Edema of Dorsum of Feet 758.60 Imp: Turners Syndrome 746.7 Hypoplastic L Heart 746.6 Mitral Valve Atresia 778.5 Edema of Dorsum of Hands 746.4 Aortic Valve Atresia Section of the nuchal stan showed vascular congesrn, mild increase in connective tissue fi no increase in * of detected lymphatic vessels. There was no evidence of dilatation of these lymphatic vessels. Imp: 47, XXX Syndrome No Developmental Abnormalities 772 2 Subarachnoid Hemorrhage 742.88 Germinal Eminence Hemorrhage 757.20 R hand Simian Crease 758.09 Imp: Mosaic Trisomy 21 Appendix III Autopsy Findings Method Amniotic EGA at Narrow Diagnosis: of TA Fluid Terminabon Code: R hand 5th finger Clinodactyly 753.60 Posterior Urethral Valves 524.0 Small Mandible (Oligohydramnios Sequalae) 753.82 Bladder Diverticulum 753.22 Bilateral Megaureters 753.20 Bilateral Hydronephrosis 752.84 Prostate Maldevelopment 753 88 Megacystis 754.50 R Talips Equinovarus 741 05 Defect in Lumbar Spine Consistent with Myelomeningocele 741.05 Cortical Mantle is Thin Consistent with Ventriculomegaly 754.50 Bilateral Talipes Equinovarius Imp: Multifactorial NTD 754.20 Sacral Kyphosis 758.20 Imp: Trisomy 18 Syndrome 749.20 L Cleft Lip 749.20 Cleft Palate 755.51 Overlapping Fingers 2nd & 3rd on both Hands 746.08 Dysplastic Bicuspid Pulmonary Valves 746 4 Dysplastic Bicuspid Aortic Valves 746.6 Parachute Mitral Vatve with Thickened Leaflet Tissue 757.8 Pterygia, both Inner Hip Joints 758.32 Imp: Wolf-Hirschhom Syndrome (-4p) 756.30 11 Ribs 747.64 Hypoplastic L Common Iliac Artery 753.00 Hypoplastic Kidneys 747.5 Single Umbilical Arteries 756.08 Broad Nose 756.08 Hypertelorism 778.5 Mild Lymph Edema on Feet 778.5 Mild Lymph Edema on Hands 758.58 Imp: Unbalance Translocation 751.01 Meckels Diverticulum 755.67 Agenesis of R Hemipetvis 751.10 Duodenal Stenosis 753.87 Urinary Bladder Fistula 753.00 Bialteral Renal Agenesis 751,24 Anal Agenesis 753 69 Urethral Agenesis 745 20 Tetralogy of Fallot 755,32 Agenesis of R Tibia 755 30 Agenesis of L Lower Leg 762 29 Disrupted Systemic Blood Flow at 4-6 wks 758.59 Imp: Limb-Body-Wall Complex 762.28 Fibroelastic Rxn on Chorionic Plate 755,32 Agenesis of R Flbia 16+1/2 gp, 19+ 6 dates 764,9 This was a good termination, there was mild IUGR 16*1/2 gp, 19+ 6 dates 755.50 Bilateral 5th Finger Clinodactyly 16*1/2 gp. 19 * 6 dates 758.00 Imp: Down's Syndrome - 47, XX, + 21 16+1/2 gp, 19 + 6 dates 745.63 Complete AV Canal Defect 17+ 1/2 778.5 Edema on Dorsum of Hands 17 + 1/2 Imp: Turners Syndrome 17 + 1/2 778,5 Generalized Edema 17+ 1/2 747.21 Tubular Hypoplasia of Aortic Arch 17 • 1/2 747.41 Persistent L Superior Vena Cava 7464 Aortic Vatve Stenosis Head & neck fragments were severely damaged by the meth. of TA & could not be further evaluated Bilateral Cateracts Imp: Frontal Nasal Dysplasia 756.08 Craniofacial Malformation consistent with Frontal Nasal Dysplasia, with ... 748.10 Absent Nasal Bridge and Nasal Tip Widely Set Nares Hypertelorism PND of Choroid Plexus Cysts, Bilateral not confirmed due to fragmentation 749.12 Midline Cleft Lip 750.25 Agenesis of Primary Palate PND of Encephalocele, frontal vertex not confirmed due to fragmentation Bilateral Absence of Retinal Ganglion and Nerve Fiber Layers Bilateral Optic Hypoplasia Appendix III Autopsy Findings 191 Method Amniotic EGA at Narrow Diagnosis: ot TA Fluid Termination Code: No Other Developmental Anomalies in Parts Available 758.70 Imp: Klinefelter's Syndrome 755.50 Bilateral Clinodactyly of 5th Finger 755.50 Bilateral 5th Finger Clinodactyly 745 S3 Complete Atrioventricular Canal Defect 757.2 R Simian Crease 758 oo Imp: Down's Syndrome ? Flattened Acetabula 752.08 Dysgenetic Ovary 745.63 Atrioventricular Canal Defect 756.08 Flattened Occiput 744 91 Abn. Slant of the Palpebral Fissures 747.21 Tubular Hypoplasia of Aorta 758.00 Imp: Down's Syndrome 772.88 Patchy Visceral Congestion and Focal Hemorrhage 758.00 Imp: Down's Syndrome - 47, XY, + 21 755.50 Mild Bilateral 5th Finger Clinodactyly 751.01 Meckel's Diverticulum 758,60 Imp: Turners Syndrome 762.28 Immature Placental Tissue 778.5 Subcutaneous Edema 753.20 Unilateral Hydronephrosis 746 21 Hypoplastic Aortic Isthmus The head is crushed and damaged and not assessable 742 39 Hydrocephalus No other Developmental Abnormalities 746.88 Small L Atrium 746.88 Small L Ventricle 756.60 Imp: Turners Syndrome 228 1 Cystic Hygroma 757 o Edema of Limbs 746 5 Mitral Vavle Stenosis 746 7 Hypoplastic L Heart 425.3 Endocardial Fibroelastosis 746 4 Bicuspid Aortic Vatve 753.29 Uteropetvic Junction Obstruction 753.20 Bilateral Hydronephrosis 755.50 Bilateral 5th Finger Clinodactyly 758.00 Imp: Down's Syndrome 741.01 Hydrocephalus and... 755.50 Bilateral 5th Finger Clinodactyly 741.01 Beaking of the Tectum. 741.01 Lumbar Meningomyelocele Imp: Multifactorial NTD 741.01 Chiari Type II Malformation with ... 740.02 Anencephaly 749,21 Bilateral Cleft Lip 749.21 Bilateral Cleft Palate 754.20 Scoliosis 748.51 Pulmonary Hypoplasia 759.11 Adrenal Hypoplasia Imp: Multifactorial NTD 748.18 Bulbous Broad Nose with Single Nostril 756.08 Brachycephaly 744,91 Down Slanting Palpebral Fissures 748,0 Choanal Atresia 744.91 Dysmorphic Facies Microcephaly (3rd centile at 27 wks) Imp: Alobar Holoprosencephaly: Unknown Etiology (potential for recurrence ~ A.R. & A,D. synd.) Hemorrhage of Both Lobes of the Liver - due to termination procedure PND of Alobar Holoprosencephaly is not confirmed due to disruption of the brain 756.08 Hypotelorism 744.91 Flat Midface Abnormal Right Atrium Morphology Hirsutism of Face, Arms & Back Small Oral Opening Hematoma of L Chest Wall over Nipple - due to termination procedure Dilated Righ Ureter with Possible Ureteropetvic Obstruction Appendix III Autopsy Findings Code Method Amniotic EGA at Narrow Diagnosis: No: ofTA Fluid Termination Code: 752.38 Bicomuate Uterus 758.10 Imp: Trisomy 13 Syndrome 755.00 L Hand Postaxial Polydactyly No Fetal Tissue Identified Chorioamnionitis Herniation of small bowel, stomach, liver and spleen 748.51 Hypoplasia of Lung 756.62 Membranous Diaphragm with severe eventration 3 3 29 (G.P.) 29 * 4 (dates) 762.28 Placental Hydrops 3 3 29 (G.P.) 29 + 4 (dates) 759.08 Lymphocytic Depletion in Spleen 3 3 29 (G.P.) 29+ 4 (dates) IUD at 29 wks, 4 days retention by dates 3 3 29 (G.P.) 29+ 4 (dates) Imp: IUD Secondary to Vascular Malformation and High Output Cardiac Failure 3 3 29 (G.P.) 29+ 4 (dates) 759.18 Stress Resp. with Adrenal Steal., Lymphocytic Depletion in Spleen, Corticohistocytosis of Thymus 3 3 29 (G.P.) 29 * 4 (dates) 756.07 Vascular Connection through R Temporal Bone Btwn Tumor and Intracranial Cavity 3 3 29 (G.P.) 29 • 4 (dates) Brain is autolysed & liquified with no external abnormalities 3 3 29 (G.P.) 29 + 4 (dates) 747.88 Extracranial Nuchal Tumor, Vascular Malformation (Inv. R side of Head, extending into both cheeks) 3 3 29 (G.P.) 29+ 4 (dates) 778.0 Pulmonary Hypoplasia 3 3 29 (G.P.) 29 + 4 (dates) 511.9 Pleural Effusions 3 3 29 (G.P.) 29+ 4 (dates) 778.0 Ascite Fluid 3 3 29 (G.P.) 29 • 4 (dates) 778.5 Subcutaneous Edema 3 3 29 (G.P.) 29 + 4 (dates) 746.86 Cardiomegaly, with constriction band necrosis 3 3 29 (G.P.) 29 + 4 (dates) 759.24 Corticohistocytosis of Thymus 2 4 21 762.8 Amnion Nodosum 2 4 21 756.34 Abnormal Ribs 2 4 21 747,5 Single Umbilical Artery 2 4 21 756.18 Abnormal Vertebrae 2 4 21 748.51 Pulmonary Hypoplasia 2 4 21 753.00 Bilateral Renal Agenesis 2 4 21 751,24 Imperforate Anus 2 4 21 754.73 Club Feet 2 4 21 744.88 Nuchal Edema 2 4 21 759,89 Imp: VATER Association 2 4 21 754.20 Lumbar Scoliosis , , 19 + 5 756.71 Imp: Isolated Gastroschisis (U/S Identified) 1 1 19 * 5 PND of Gastroschisis not confirmed due to fragmentation, however... 1 1 19 + 5 751.62 Abnormal Liver Histological Architecture Consistent with Extrusion Through Abnominal Wall Defect 1 1 21 745.49 VSD i 1 21 747.21 Hypoplasia of Aortic Isthmus 1 1 21 758.20 Imp: Trisomy 18 Syndrome i 1 21 753.32 Horseshoe Kidney i 1 21 755.50 Abnormal Digits L Hand • 1 21 747.5 Single Umbilical Artery i 1 21 762.7 Deciduitis i 1 21 762.7 Chorionitis 1 21 746.88 Polyvafvular Dysplasia 1 21 746.88 Hypoplastic L Ventricle 1 21 746.6 Mitral Valve Defect ' 1 21 747.19 Coarctation of the Aorta 2 1 21 * 4 twin A. 6 +3 twins 756.15 Multiple Levels of Failed Segmentation Involving the Thoracic Spine 2 1 21 * 4 twin A. 6 +3 twin 8 Chiari II Marfn, Beaking of Tectum & Prolongation of Cerebellar Vermus to the medulla AHydroceph. 2 1 21+4 twin A. 6 +3 twin B 742.58 Diplomyelia (Lumbothoracic up to High Cervical Region) 2 1 21+4 twin A. 6 +3 twin B 741,08 Lumbosacral Meningomyelocele 2 1 21 + 4 twin A. 6 +3 twinB Imp: Multifactorial NTD - Twin A, No Specific Diagnosis Can Be Made - Twin B 2 1 21+4 twin A, 6 +3 twin B Twin B - May Not Be Normal , 1 14 + 3 755,50 Bilateral 5th Finger Clinodactyly 1 1 14-3 759.7 Imp: MCA, Unknown Etiology 1 1 14 + 3 PND of Cystic Hygroma Not Confirmed Due to Fragmentation 1 1 14 * 3 PND of Holoprosencephaly not confirmed due to fragmentation 1 ' 14 + 3 747,5 Single Umbilical Artery 1 1 20 + 2 No Developmental Abnormalities 1 1 20 + 2 758.00 Imp: Down's Syndrome 2 1 19. 22 (dates) 742.48 Thick Ventral Limb of Inferior Olivary Nucleus 2 1 19. 22 (dates) 746.88 L Ventricular Hypertrophy 2 1 19. 22 (dates) 755.51 Abn Position of Fingers 2 1 19, 22 (dates) 742.4B Cortical Hemorrhage 2 1 19. 22 (dates) 746.88 Polyvarvular Dysplasia 2 1 19, 22 (dates) 746.08 Bicuspid Pulmonary Valve 2 1 19. 22 (dates) 747,21 Tubular Hypoplasia of Aortic isthmus 2 1 19, 22 (dates) 745 49 VSD Appendix III Autopsy Findings Code Method Amniotic EGA at Narrow Diagnosis: No: of TA Fluid Terminal) on Code: 2 1 19. 22 (dates) 764.9 IUGR 2 1 19. 22 (dates) 759.21 Dilated Thyroid Follicles 2 1 19, 22 (dates) 758.20 Imp: Trisomy 18 Syndrome 2 1 19, 22 (dates) 744.24 Low Set Ears 2 1 19. 22 (dates) 746.88 Distal Placement of Coronary Ostia 44838 2 1 17 759.89 Imp: Short Umbilical Cord Syndrome 2 1 17 753,99 Urorectal Septum Malformation 2 1 17 553.1 Omphalocele 2 1 17 762.60 Short Umbilical Cord 2 1 17 747.5 Single Umbilical Artery 2 1 17 748,51 Pulmonary Hypoplasia 2 1 17 764.9 IUGR 2 1 17 756,34 11 Ribs 2 1 17 754.20 Dextrorotoscoliosis 2 1 17 754.73 Bilateral Club Feet Imp: Multifactorial NTD 751.50 Dorsal Enteric Duplication Cyst 740,02 Anencephaly 759.11 Adrenal Cortical Hypoplasia 228 1 Cystic Hygroma 747 41 Persistent L Vena Cava 758.60 Imp: Turners Syndrome 7780 Hydrops Fetalis 746 4 Bicuspid Aortic Vatve 745.58 ASD, Secundum Type 747,21 Hypoplastic Aortic Isthmus 748.51 Pulmonary Hypoplasia 764,9 Severe Asymmetric Intrauterine Growth Retardation 751.64 Gall Bladder Aplasia 762.28 Abnormally Small, Noncystic Placenta 755.19 Syndactyly of Both Hands + Feet 758.58 Imp: Triploidy - 69, XXX 753.32 Horseshoe Kidney 749,09 Cleft Palate 759,11 Hypoplasia of Adrenal Glands 746.51 Pulmonary Hypoplasia 747 5 2 Vessel Cord 752 09 Ovarian Hypoplasia 742,88 Minor Anomalies of CNS - Heterotopias/Failure of Cortical Spinal Tracts to Cross 741.90 Cervical Rachischisis at C6 or C5 740.02 Anencephaly Imp: Multifactorial NTD 745.63 Complete AV Canal Defect 778 o Fetal Hydrops 758.00 Imp: Down's Syndrome 228.1 Cystic Hygroma 758.12 Imp: Translocation Trisomy 13, 46, XX, -14, + t(13;14) 778.0 Hydrops Fetalis 755.00 Postaxial Polydactyly, Both Hands 755.00 Partial Duplication of Big Toe, Bilateral 745.20 Tetralogy of Fallot 228.1 Cystic Hygroma 745.48 VSD, Peri membranous 746.00 Pulmonary Atresia 744.24 Posteriorly Rotated Low Set Ears 746.6 Mitral Valve Dysplasia 747,26 Overriding Aorta 747.5 Single Umbilical Artery 747 41 Persistent L Superior Vena Cava 752 38 Biconuate Uterus 747.5 2 Vessel Cord 751.01 Meckel's Diverticulum 746.1 Tricuspid Vatve Dysplasia 747.19 Coarctation of Aorta 759.82 Imp: Smith-Lemi-Opitz Syndrome 754.73 R Clubbed Foot 755.19 Bilateral Syndactyly 2nd & 3rd Toes 755.09 Bilateral Polydactyly Hands 745.51 ASD, Secundum Type 764.9 IUGR 747.21 Tubular Hypoplasia of Aortic Isthmus Appendix III Autopsy Findings 194 Method Amniotic EGA et Narrow Diagnosis: olTA Fluid Termination Code. 1 2 20 2 751.01 Meckel's Diverticulum 1 2 20 2 745.48 VSD, Muscular 44895 2 3 19* 1/2 GP. 27-28 Dates 768.0 Imp: Chronic Intrauterine Asphyxia 2 3 19* 1/2 GP, 27-28 Dates IUD at 25 - 26 weeks Gest. 2 3 19- 1/2 GP. 27-28 Dates 764.9 Severe IUGR 2 3 19- 1/2 GP. 27-28 Dates 762.28 Severe Placental Growth Retardation 2 3 t9* 1/2 GP. 27-28 Dates 762.28 Thickening of Maternal Decidual Vessel Walls (Mat. Hypertension) 41005 1 1 14 6 No Developmental Abnormalities 1 1 14 6 758.88 Imp: 45, X/46, X, dicY 41011 1 1 21 Incomplete Autopsy 1 1 21 754.20 Scoliosis 1 1 21 Imp: U/S Identified Anomalies, Possibly Limb Body Wall Complex 45028 1 1 12 * 3 754.73 Mild Club Feet 1 1 12 + 3 746.7 Hypoplastic L Heart 1 1 12 + 3 747.21 Hypoplasia of Aortic Isthmus 1 1 12 • 3 747 19 Aortic Coarctation 1 1 12 • 3 746.1 Dysplastic Tricuspid Valves 1 1 12 * 3 746.08 Dysplastic Pulmonary Valves 1 1 12 * 3 758 20 Imp: Trisomy 18 Syndrome 1 1 12 • 3 Due to the fragmentationof the fetus the nuchal area could not be evaluated. 45031 2 1 17 Imp: Multifactorial NTD 2 1 17 740.1 Craniorachischisis 2 1 17 759.11 Small Adrenal Glands 45054 1 1 17 + 2 755.50 Bilateral 5th Finger Clinodactyly 1 1 17 • 2 758.00 Imp: Down's Syndrome 45059 1 4 16 * 6G.P.. 19 Dates 754.73 Bilateral Club Feet (Oligohydramnios Sequence) 1 4 16 + 6G.P.. 19 Oates 762.7 Focal Chorioamnionitis with Ascending Infection (Ingested Neutrophils) 1 4 16 * 6G.P.. 19 Dates 748.51 Pulmonary Hypoplasia (Oligo. Seq.) 1 4 16 • 6G.P.. 19 Dates 761.1 Imp: Premature Rupture of Membranes 1 4 16 * 6G.P.. 19 Dates 757.8 Pterygium L Antecubital Fossa (Oligo. Seq.) 45060 1 1 16 * 6 755.50 Bilateral 5th Finger Clinodactyly 1 1 16 * 6 Imp: Multifactorial NTD 1 1 16 • 6 741.99 Lumbar Spina Bifida 41071 1 1 15 * 3 743.32 Bilateral Cataract 1 1 15 * 3 No Developmental Anomalies Identified in Intact Parts 1 1 15 - 3 758.00 Imp: Down's Syndrome 1 1 15 * 3 743.8 Posterior Coloboma and Retinal Dysplasia, Unilateral 41084 1 1 17 * 2 740.01 Acrania 1 1 17 * 2 741.90 Suggested Cervical Rachischisis 45210 2 3 16 771.1 Imp: Cytomegalovirus Infection 2 3 16 751.58 Inspissated Secretions in Small Bowel 2 3 16 771.1 Cytomegalovirus Inclusions Kidny, CNS, Lung, Liver 2 3 16 778.0 Ascites 2 3 16 762.28 Lymphoplasmocytic Villi tis 2 3 16 755.02 Postaxial Polydactyly, L Foot 2 3 16 751.88 Hepatosplenomegaly 45215 2 4 18 + 1 742.58 Ependymitis 2 4 IS * 1 742.29 Decrease in Periventricular Primative Cells 2 4 18 * 1 742.29 Decrease in Externa) Granular Layer 2 4 18 + 1 742.23 Area of Necrosis in Cerebellum 2 4 18 * 1 742.88 Ventriculitis 2 4 18 * 1 742.88 Periventricular Inflammation 2 4 18 * 1 753.20 Dilated Renal Pelvis 2 4 18 + 1 762.8 Imp: Amniotic Infection Syndrome 2 4 18 + 1 762.7 Chorionamnitis 2 4 18 + 1 759.11 Adrenal Hypoplasia 2 4 18 • 1 778.0 Mild Hydrops Fetalis 2 4 18 • 1 757.2 Bilateral Simian Crease 2 4 18 • 1 761.2 Oligohydramnios Sequalae 41224 1 4 16 + 5 759.89 Imp: Findings consistent with Fraser Syndrome (A.R.) 1 4 16 * 5 759.18 Pancake appearance of Adrenals 1 4 16 * 5 750.78 Small Stomach 1 4 16 + 5 755.19 Syndactyly of Fingers 2-5, Right Hand 1 4 16 + 5 748.48 Cystic Adenomatoid Malformation Type III Changes 1 4 16 * 5 753.00 Bilateral Renal Agenesis 1 4 16 + 5 752.88 Abnormal, Hypoplastic, Dysmorphic External Male Genitalia Appendix III Autopsy Findings 195 Code Method Amniotic EGA at Nanow Diagnosis: No: ofTA Fluid Te •mi nation Code: 1 4 15 * 5 PND of Encephalocele not confirmed due to frag, (encephalocele is seen in 10% of fraser synd cases) 1 4 16 • 5 PND of Tracheoesophageal Fistula not confirmed due to fragmentation 1 4 16 * 5 753.68 Small Bladder 45247 1 t 12 • 2 758.00 Imp: Down's Syndrome 1 1 12 • 2 755.50 Bilateral 5th Finger Clinodactyly 1 1 12 + 2 757,2 Right Simian Crease 1 1 12 • 2 No Other Developmental Anomalies in the Available Intact Fetal Parts 45245 1 1 19 + 5 759.89 Imp: Cloacal Dysgenesis Syndrome 1 1 19 * 5 753.99 ? Urorectal Septum Malformation 1 1 19 • 5 751.21 Rectovescicle Fistula 1 1 19 * 5 753.20 Hydronephrosis 1 1 19 * 5 747.5 Single Umbilical Artery 1 1 19 * 5 753,01 Possible Unilateral Renal Agenesis (one kidney not identified) 892902 2 1 16 * 1/2 ? Peritoneal Linear and Punctate Calcifications 2 1 16 + 1/2 746.88 Centrally Located Heart 2 1 16 + 1/2 755,16 Fused Vertebrae - Mid Lumbar Region 2 1 16 • 1/2 742,26 Single Midline Ventricle 2 1 16 * 1/2 742.20 Cerebrum Without Identifiable Nuclei or Tracts 2 1 16 * 1/2 742.1 Microcephaly 2 1 16 • 1/2 748.10 Absent Nasal Structures 2 1 16 * 1/2 743.67 Closely Set Eyebrows with One Obital Slit 2 1 16 • 1/2 744.11 Preauricular Skin Tags 2 1 16 * 1/2 744.21 Microstomia 2 1 16 * 1/2 746.4 Aortic Vatve Dysplasia 2 1 16 * 1/2 756.14 Hemivertebrae C7 - T3 2 1 16 * 1/2 762.8 Mild Funisitis 2 1 16 • 1/2 756.33 13 Ribs, and 12 Ribs 2 1 16 • 1/2 746.08 Pulmonic Valvular Dysplasia 2 1 16 • 1/2 746.88 Polyvalvular Dysplasia 2 1 16 • 1/2 753.32 Horseshoe Kidney 2 1 16 * 1/2 755.50 Bilateral 5th Finger Clinodactyly 2 1 16 * 1/2 751.72 Annular Pancreas 2 1 16 * 1/2 762.28 Small Placental Disc 2 1 16 * 1/2 759.11 Adrenal Hypoplasia 284502 2 e 31 (G.P), 33 (dates) 742.48 Inferior Olivary Nuclei and Lateral Geniculate Body Defects 2 6 31 (G.P.), 33 (dates) 752.08 Hypoplasia of Ovary 2 6 31 (G.P), 33 (dates) 756,38 Short Sternum 2 6 31 (G.P.), 33 (dates) 757 48 Hirsute Facies 2 6 31 (G.P), 33 (dates) 744,24 Low Set Ears 2 6 31 (G.P.J.33 (dates) 756,08 Narrow Bifrontal Diameter 2 6 31 {G.P.J. 33 (dates) 524,0 Micrognathia 2 6 31 (G P.). 33 (dates) 755.50 Digitalized Thumb 2 6 31 (G.P.), 33 (dates) 755.19 Syndactyly of Both Feet 2 6 31 (G.P.}. 33 (dates) 757.58 Nail Hypoplasia 2 6 31 (G.P.). 33 (dates) 753.32 Horseshoe Kidney 2 6 31 {G.P.J.33 (dates) 747.5 Single Umbilical Artery 2 6 31 {G.P.J.33 (dates) 553.1 Omphalocele 2 6 31 {G.P.J.33 (dates) 746.88 R & L Ventricular Hypertrophy 2 6 31 (G.P.J, 33 (dates) 758,20 Imp: Trisomy 18 Syndrome 2 6 31 (G.P). 33 (dates) 742,58 Periventricular Leukomalacia, Multiple 2 6 31 {G.P.J. 33 (dates) 762.28 Decidual Necrosis of the Fetal Membranes 2 6 31 (G.P.). 33 (dates) 762,28 Maternal R Dermoid Cyst 2 8 31 (G.P.). 33 (dates) 747.21 Hypoplastic Isthmus 2 6 31 (G.P.). 33 (dates) 747,21 Mild Tubular Hypoplasia of Aorta 2 6 31 (G.P.). 33 (dates) 746.1 Dysplastic Tricuspid Vatve 2 6 31 (G.P). 33 (dates) 746.08 Dysplastic Pulmonary Vatve 2 6 31 {G.P ), 33 (dates) 745.48 VSD, Perimembranous 2 6 31 {G.P.J, 33 (dates) 746,4 Dysplastic Aortic Vatve 2 6 31 (G.P), 33 (dates) 750,32 Tracheoesophageal Fistula Appendix IV Evaluation at Autopsy 196 Case Method Site Cervical Preterm CNS Heart Kidney Fetal Karyotype -Prenatal Fetal Karyotype - Postnatal No: of T/A of T/A Dilators Demise Exam Exam Exam 5292 1 4 3 1 1 None 46, XY, t(6:7) (p25;q22) balanced 7354 1 1 3 2 1 47, XY, + 18 CVS 47, XY, + 18 12496 1 2 3 1 1 47, XY, + 21 None 12669 2 1 2 2 1 None 46, XX 1341C 2 1 2 2 2 47, XY, + 21 Cordo 47, XY, + 21 14095 1 1 3 3 3 46, XX, -15, +t(15q21q) 46, XX, -15, +t(15q21q) 16698 1 3 3 3 1 45, X CVS 45, X 20149 1 2 3 3 1 47, XY, + 21 / 48, XY, + 21, + marker 47, XY, + 21 / 48, XY, + 21, + marker 20663 2 2 1 1 1 None 47, XX,+ 13 20697 1 1 3 1 1 46, XX, -21, + i(21q) 46, XX,-21,+i(21q) 2221 £ 3 1 2 3 1 1 46, XY/47, XY, +21 CVS None 22659 4 2 3 1 3 None None 23186 1 2 3 1 1 46, XY / 46, XY, - 22, + r(22) 46, XY / 46, XY, - 22, + r(22) 46, XY, -4, + der(4)t(4;15)(q33;q26.1) 24100 1 2 3 1 3 CVS 46, XY, -4, + der(4)t(4;15)(q33;q26.1) 24542 1 1 3 2 1 47, XY, + 13 CVS 47, XY, + 13 25430 1 2 3 1 1 47, XX,+21 CVS 47, XX, +21 26215 1 3 3 3 3 69, XXX CVS 69, XXX 26374 1 3 3 2 1 47, XY, + 18 47, XY, + 18 27937 4 4 3 3 3 47, XY, + 21 Failed 28125 2 2 3 1 1 47, XX, +21 47, XX, + 21 28273 2 1 2 2 2 46, XY CVS 46, XY 46. XX,-11, + der(11), 46, XX,-11,+der(11), 28286 4 4 3 2 1 t(6:11)(q23;q23)pat CVS t(6:11)(q23;q23)pat 28958 2 1 1 1 2 None 46, XY 29299 1 2 3 3 1 46, XY / 47, XY, + 21 mosaic CVS 46, XY/47, XY,+ 21 mosaic 29338 1 1 3 1 1 None None 29392 1 1 3 3 3 69, XXX 69, XXX 29455 1 2 3 1 1 45, X / 46, XY 45, X / 46, XY 29830 1 2 3 1 1 47, XY, + 21 47, XY, + 21 30683 4 3 3 3 3 47, XY, + 21 CVS 47, XY, + 21 31134 2 1 1 1 1 47, XX, + 21 47, XX, +21 31464 2 1 1 1 2 47, XXY 47, XXY 31574 1 2 3 1 1 46, XY / 47, XY, + marker 46, XY/47, XY,+ i(18p) 31703 2 1 2 1 1 None 46, XY 32236 1 3 3 3 1 47, XY, + 9 / 46, XY 47, XY, + 9 / 46, XY 32491 2 1 2 1 1 None 46, XX 46, XX,-13, + 33222 1 1 3 1 1 46, XX, -13 + der(13)t(12;13) der(13)t(12:13)(q24.33:q32) 47, XY, + 21 / 48, XY, + 2, + 21 conf. to 33256 1 2 3 2 1 48, XX, + 2, + 21 CVS placenta 33297 2 1 2 1 2 46, XY CVS 46, XY 33299 2 1 2 1 1 None 46, XY 4b, XX,+ 33951 1 1 8 3 2 1 2 der(13)t(13:15)(q14;p12)mat Cordo None 34461 1 4 3 1 1 47, XY, + 21 CVS 47, XY, + 21 34568 4 4 3 2 1 Failed 46, XY, - 9, der(9), t(6:9)(q25;p24)pat 34934 1 2 3 1 1 46, XX None 34960 1 1 3 1 1 47, XY, + 21 CVS 47, XY, + 21 35159 2 1 1 1 1 46, XY/47, XY, + i(12p) 46, XY/47, XY,+i(12p) 35167 1 2 3 1 1 None 46, XY 35168 1 2 3 1 1 None 46, XX 35261 2 1 2 3 2 3 None 47, XX, + 21 35277 2 1 1 1 1 None 46, XY 35285 2 2 2 2 2 47, XY,+ 13 47, XY, + 13 35420 1 2 3 1 1 46, XY Failed 35439 2 1 2 1 1 None 46, XY 35444 2 1 1 1 2 None 46, XY 35468 2 1 2 1 1 46, XX None 35470 3 1 2 1 2 None 46, XX 35478 2 2 2 2 2 47, XY,+ 18 47, XY,+ 18 35613 1 2 3 3 2 47, XY, + 18 CVS 47, XY, + 18 35615 2 1 1 2 1 47, XX, + 18 47, XX, + 18 35631 2 1 1 1 1 None 46, XY 35635 1 1 3 1 1 None 46, XY 35649 2 1 1 2 1 47, XY,+21 CVS 47, XY, + 21 35654 2 1 2 1 None 46, XY 35690 1 2 2 1 1 None 46, XX 35742 2 1 1 1 1 46, XY 46, XY 35756 1 1 3 1 1 None 47, XX, + 18 35757 1 1 3 1 1 None 46, XY 35766 1 2 3 1 1 None 46, XX 35785 2 1 1 1 None 46, XX 35791 2 1 1 1 1 None 46, XX 35810 2 1 2 1 1 None 46, XY Appendix IV Evaluation at Autopsy 197 Case Method Site Cervical Preterm CNS Heart Kidney Fetal Karyotype -Prenatal Fetal Karyotype - Postnatal No: of T/A of T/A Dilators Demise Exam Exam Exam 35931 1 2 3 3 1 47, XY, + 13 CVS 47, XY, + 13 35965 1 2 3 2 1 47, XY, + 13 47, XY, + 13 35971 2 1 3 2 1 None 45, X 35973 2 1 1 2 2 47, XX,+ 18Cordo 47, XX, + 18 36060 2 4 1 2 2 47, XX, + 18 47, XX,+ 18 36071 1 1 3 3 1 46, XX, del(18)(p11)/46, XX, l(18q) CVS Failed 36076 2 1 2 1 1 None None 36081 2 1 4 3 1 23 None Failed 36086 2 1 1 1 1 None 46, XY 36112 3 4 2 3 3 3 None Failed 36159 2 1 1 1 1 46, XY / 47, XXY 46, XY / 47, XXY 36193 1 2 3 1 1 None 46, XX 36320 2 1 2 1 1 None 46, XX 36332 1 1 3 2 1 47, XX, + 18 47, XX, + 18 36337 2 1 2 2 2 69, XXX Cordocentesis 69, XXX 36363 2 1 2 1 1 None 46, XY 36366 2 1 1 2 1 46, XY, -13, + der(13), t(13;21) 46, XY,-13,+ der(13), t(13;21) 36369 1 2 2 1 1 None 46, XX 36373 2 1 2 1 2 46, XY None ? 36374 2 1 2 1 1 None 46, XY 36478 1 2 3 3 1 45, X / 46, X, + marker CVS 46, XX (CPM) 36571 1 1 1 2 1 69, XXX None 36618 2 1 2 1 1 None 46, XY 36715 2 1 1 2 1 None 46, XX 36733 4 2 3 3 1 47, XX,+ 21 CVS 47, XX, + 21 36736 1 2 3 3 2 None 46, XY 36744 1 2 3 1 23 46, XY None 36754 2 1 1 2 1 45, X 45, X 36758 2 1 1 2 1 47, XX, + 18 None 36798 2 1 3 2 1 None 46, XX 36849 2 1 1 1 2 None Failed 36852 1 2 3 1 1 None 46, XX 36864 1 2 3 3 47, XX, + 18 47, XX,+ 18 36871 1 2 3 1 1 47, XY, + 21 47, XY, + 21 36885 2 1 2 1 47, XX, + 21 47. XX,+21 36888 2 2 2 1 2 46, XX None 36907 2 1 2 2 1 2 46, XX Cordo None 36908 1 2 3 1 1 47, XYY 47.XYY 36912 1 1 3 1 47, XY, + 13 CVS 47, XY, + 13 36922 2 1 3 1 2 None 46, XY 36949 4 2 3 3 47, XX, +.18 CVS 47, XX, + 18 36967 2 1 1 1 1 45, X /47, XXX 45, X / 47, XXX 36969 2 2 2 1 2 None Failed 36974 2 1 2 1 1 None 46, XX 36992 1 2 3 1 2 46, XX 46, XX 36993 2 1 2 1 2 None 46, XX 37114 1 2 3 1 1 None 46, XY 37134 2 1 1 1 1 Not Known at TA 47, XX, + 13 amnio 37154 1 1 3 3 None 45, X 37164 1 1 3 1 1 47, XY, + 21 47, XY, + 21 37166 1 1 3 1 1 47, XX,+ 13 CVS 47, XX, + 13 37169 1 3 3 1 46, XY,-15,+t(13ql15q) Failed 37182 1 2 3 1 1 None 46, XX 37304 1 1 3 1 1 None 47, XY, + 21 37326 1 4 2 1 1 None Failed 37327 2 1 1 1 1 47, XY, + 21 47, XY, + 21 37341 2 1 2 1 1 None None 37370 2 1 2 1 2 46, XY 46, XY 37392 2 1 1 1 2 None Failed 37397 2 1 1 1 1 None 46, XY 37399 2 1 2 1 1 47, XX, + 13 47, XX, + 13 37496 1 2 3 ! 1 46, XY, - 4, + der(4), t(4;11)(q35;q21)mat. 46, XY, - 4, + der(4), t(4; 11 )(q35;q21 )mat 37613 1 2 3 1 1 45, X 45, X 37615 1 1 1 1 47, XY, + 21 47, XY, + 21 37616 1 2 3 1 1 47, XY, + 21 Failed 37637 1 1 3 1 2 47, XY, + 21 47, XY, + 21 37640 1 2 1 3 1 47, XY, + 21 CVS 47, XY, + 21 37663 1 2 3 1 1 47, XY, + 21 47, XY, + 21 37680 1 1 1 1 None 46, XX 37691 1 2 3 1 1 None 46, XY 37706 1 2 3 1 1 47, XY, + 21 None 37714 1 2 2 1 2 None 46, XY 37716 3 1 2 1 1 1 47, XY, + 21 None Appendix IV Evaluation at Autopsy 198 Case Method Site Cervical Preterm CNS Heart Kidney Fetal Karyotype -Prenatal Fetal Karyotype - Postnatal No: of T/A of T/A Dilators Demise Exam Exam Exam 37717 1 2 3 1 3 47, XY, + 21 47, XY, + 21 37728 2 1 2 2 2 None 47, XY, + 13 37750 2 1 2 2 1 46, XY None 37752 1 2 3 2 1 47, XX, + 21 Placental Biopsy 47, XX, + 21 37760 1 2 2 1 1 46, XX 46, XX 37771 2 1 3 1 46, XY 46, XY 37777 2 1 2 2 47, XY, + 21 47, XX, +21 37778 2 4 3 2 1 46, XX 46, XX 37779 2 1 2 1 1 1 None 46, XY 37798 2 1 2 1 46, XY Failed 37828 1 2 2 1 1 None 46, XY 37905 2 1 2 1 1 46, XY None 37921 2 1 2 1 1 None 46, XY 37933 2 1 2 1 None Failed 37935 1 3 3 3 1 47, XY, + 21 47, XY, + 21 37964 1 2 3 1 1 46, XX 46, XX 37967 1 2 3 1 1 47, XX, + 21 47, XX, +21 37992 2 4 1 2 1 46, XX None 37993 2 1 1 1 None 46, XY 37998 1 2 3 2 1 47, XY, rect(7:11)(7q13;11q24) + 18 47, XY, rect(7:11)(7q13;11q24) + 18 38101 1 1 3 2 1 47, XX, + 13 CVS 47, XX,+ 13 38102 1 2 3 2 1 47, XY, + 21 Failed 38106 1 2 3 3 1 47, XY, + 21 CVS 47, XY, + 21 38111 2 1 1 1 1 46, XX, -21, +der(21), t(21;?) Failed 38117 2 4 3 1 1 46, XX None 3813C 1 2 3 1 1 47, XY, + 21 CVS 47, XY, + 21 38136 2 1 1 1 1 None 46, XY 38148 2 1 2 1 1 None Failed 46, XX, rec(18), dup, 46, XX, rec(18), dup, 38181 2 4 1 1 , pinv(18)(p11.2;q23)mat ptnv(18)(p11.2;q23)mat 38186 2 4 1 2 1 None Failed 38265 1 2 1 2 1 47, XY, + 21 None 46, XX, -21 + der(18), t(18;21)(q11.2- 46, XX, -21 + der(18), t(18;21)(q11.2- 38270 1 4 3 2 ! q22.1)CVS q22.1) 38313 1 2 3 1 1 47, XY, + 21 47, XY, + 21 38321 2 1 22 21 None 46, XX, der(7), t(3;7)(q27:q36) mat 38322, 2 1 2 1 1 None 46, XY 38324 1 1 3 1 47, XX, + 13 None 383291 2 1 1 2 45, X None 38330 2 1 2 1 1 None Failed 38345 2 1 22 11 11 None 46, XX and 46, XX 38348 2 1 2 1 46, XX None 38349 2 1 1 1 1 46, XX None 38356 1 1 3 1 1 None 46, Xinv(Y) 38364 1 2 3 3 1 47, XX,+ 21 None 38374 1 4 3 1 1 47, XY, + 21 47, XY, + 21 38380 1 4 3 3 1 46, XY Cordocentesis 46, XY 38391 1 2 3 1 1 46, XX / 45, X CVS 46, XX / 45, X 38506 1 2 3 1 1 45, X / 46, XX CPM 46, XX 38523 2 3 2 2 46, XX,-13, + ring 46, XX, -13, + ring 38524 2 2 2 1 1 None 46, XX 38550 2 1 3 2 1 None 47, XX, + 18 38581 1 2 3 1 1 None 46, XX 38584 1 2 1 1 1 None 46, XX 38592 1 1 3 3 1 None 45, X 38733 1 2 3 1 1 46, XX CVS None 38740 2 1 2 1 None 46, XY 38751 1 2 3 3 1 45, X Placental Biopsy 45, X 38760 2 1 1 2 1 47, XY, + 21 47, XY, + 21 38768 1 2 1 3 2 1 46, XX None 38789 2 1 3 1 None 46, XY 38791 2 1 3 1 1 45, X 45, X 38798 1 2 3 1 1 46, XY None 38901 2 1 2 1 1 46, XY CVS 46, XY 38921 1 2 3 1 46, XY None 38929 2 1 2 2 1 None 47, XY,+ 18 38949; 1 2 3 2 1 47, XY, + 13 47, XY, + 13 38951 1 1 3 3 3 47, XX, + 21 CVS 47, XX, +21 38954 2 1 1 1 23 46, XY 46, XY 38965 1 3 3 3 3 47, XX,+ 13 CVS 47, XX, + 13 38967 2 1 2 2 1 1 None 46, XX/47, XX,+ 18 CPM 38969 2 1 1 1 2 None 46, XY 38972 2 1 1 1 2 Failed 46, XY 38973 2 1 2 3 2 2 None 45, X 38978 2 1 1 1 1 69, XXY None Appendix IV Evaluation at Autopsy 199 Case Method Site Cervical Preterm CNS Heart Kidney Fetal Karyotype -Prenatal Fetal Karyotype - Postnatal No: of T/A of T/A Dilators Demise Exam Exam Exam 38979 1 2 3 1 3 47, XY,+ 21 CVS 47, XY, + 21 38983 1 2 3 1 3 None 45, X 39103 2 1 2 2 2 Not Known at TA 46, XX, -13, + der(13), t(12;13) amnio 39136 2 1 1 2 1 47, XY, + 21 47, XY, + 21 39137 1 4 3 2 1 69, XXX 69, XXX 39143 3 1 3 3 3 3 None None 39157 1 2 3 2 1 47, XX.+ 18 CVS 47, XX, + 18 39158 2 1 1 1 2 None 47, XYY 39159 1 4 3 3 3 47, XX, + 18 CVS 46, XX 3916C 1 2 3 1 1 47, XX, + 21 47, XX, + 21 39161 2 1 3 1 2 None 47, XX, + 18 39168 2 4 1 1 23 None 46, XY 39169 1 2 3 2 2 Not Known at TA 45, X amnio 39212 1 2 3 1 1 46, XX 46, XX 39276 2 1 1 1 1 None 46, XY 39301 2 1 2 2 2 None 46, XX,-13,+ r(13) 39327 1 2 1 3 1 1 46, XY, 46, XY / 47, XY + 7 CPM 39338 1 2 3 3 3 47, XY, + 18 Failed 39341 2 1 1 2 1 46, XY 46, XY 39342 1 1 3 1 1 None 46, XY 39348 1 4 0 1 1 None None 39367 1 2 2 1 2 None 46, XY 39373 1 2 2 2 2 69, XXX None 39376 2 1 1 2 2 47, XY, + 21 Failed 39380 1 2 3 1 2 46, XY None 39502 4 2 2 3 3 1 None 47, XY + 21 39509 2 4 1 2 1 47, XY, + 21 47, XY, + 21 39513 1 2 3 2 1 47, XX, + 18 47, XX,+ 18 39518 2 1 3 1 2 None 46, XY 39530 1 2 3 1 2 45, X / 46, XX, / 46 X, + marker 45, X / 46, XX, / 46 X, + marker 39552 1 2 3 2 1 None 47, XX, + 13 39561 2 1 1 1 1 None 46, XX 39564 2 1 3 1 1 47, XY, + 21 47, XY, + 21 39579 1 1 3 2 1 47, XY, + 21 47, XX,+21 39701 4 1 2 3 1 2 46, XX Failed 39702 3 1 2 2 1 2 46, XY None 39721 1 3 1 3 1 1 46, XY / 46, XY del(5) 46, XY / 46, XY, del(5)(p?14.1) 39728 2 1 3 3 3 None 46, XY 39736 1 2 3 2 1 46, XY, -14t(13;14) 46, XY,-14t(13;14) 45, X fetus / 46, X, del(X)(p21) placenta 39757 1 2 3 2 1 CVS 45, X 39788 1 3 3 1 2 None 46, XX 39794 1 2 1 2 2 1 None 46, XY, - 18, i(18q) 39819 4 1 1 3 1 3 Failed 46, XX 39905 1 2 3 1 3 46, XX CVS 46, XX 39930 1 2 3 1 1 None 46, XX 39931 4 1 3 2 2 None 46, XX 39932 1 2 1 3 2 1 46, XX,-9 + der(9), t(9;18) None, ? FISH 39942 2 2 1 2 2 1 46, XY 46, XY, der(10)t(7;10)(p21;p13) 39955 2 2 1 3 1 1 None 46, XX 40103 1 3 2 1 1 46, XY None 40114 2 2 2 3 1 1 46, XY, del(14)(p32.1) Cordo 46, XY, del(14)(p32.1) 40120 5 1 1 2 2 None 46, XY 40122 2 1 1 2 2 2 47, XY, + 13 Cordo None 40124 3 1 2 1 2 2 46, XY Failed 40155 4 1 3 2 1 47, XY, + 18 47, XY,+ 18 40165 1 2 3 2 1 47. XX, + 18 None 40180 1 1 1 3 1 1 46, XX None 40183 4 1 2 1 1 None 46, XX 40186 1 2 3 1 1 45, X None 40187 2 1 1 2 1 46, XY None 40311 2 1 2 2 1 None 47, XY,+ 13 40318 2 4 1 1 1 46, XX None 40356 4 3 3 3 1 47, XY, + 13 CVS 47, XY, + 13 40366 2 1 1 2 2 None 46, XX 40370 1 1 2 3 3 1 None 47, XY,+ 18 40372 2 1 1 1 2 None 46, XY 40375 2 1 1 1 23 46, XY 46, XY 40514 2 1 2 2 2 None 46, XY 40535 1 2 3 3 1 Not Known at TA 47, XX, + 13 amnio 40540 1 2 3 1 1 None Failed 40557 4 1 3 2 1 None 46, XX 40596 1 2 3 1 2 None 46, XX 40597 1 2 2 1 1 None 46, XY 40714 1 2 3 1 2 None 45, X Appendix IV Evaluation at Autopsy 200 Case Method Site Cervical Preterm CNS Heart Kidney Fetal Karyotype -Prenatal Fetal Karyotype - Postnatal No: of T/A of T/A Dilators Demise Exam Exam Exam 40718 2 1 1 2 1 None 47, XY, + 18 40719 1 2 3 3 1 47, XXY 47, XXY 40729 1 2 3 3 1 None Failed 40743 1 1 3 3 3 47, XY, + 21 47, XY, + 21 40745 1 3 3 2 1 None 47, XX, + 13 40748 2 1 2 1 2 None 46, XY 40751 2 1 1 1 2 69, XXX None 40756 3 1 1 1 1 2 46, XX 46, XX 40758 2 4 2 2 2 1 47, XX, + 13 None 40770 2 1 2 2 2 2 47, XY, + 18 47, XY, + 18 / 47, XY, + 18 & 46, XY 40780 1 4 3 2 2 None 47, XY, + 18 40782 1 2 3 2 1 None 46, XX 4078S 1 4 3 3 3 47, XY, + 21 CVS 47, XY, + 21 40814 1 2 3 1 1 None 46, XY 4087C 1 2 3 3 1 47, XY, + 21 CVS 47, XY, + 21 40876 1 3 3 1 1 46, XY None 40877 1 2 3 1 1 47, XY, + 21 47, XY, + 21 40886 1 2 3 1 1 None 46, XX 40891 2 4 1 2 23 None 46, XY 40895 1 2 3 1 1 None 46, XX 41002 2 4 1 1 1 47, XX, +21 47, XX, + 21 41018 1 2 3 1 2 None 46, XY 41028 1 2 3 2 1 None 46, XX, idic(18)(p11.3) 4103C 2 1 2 1 1 None 46, XX 41031 1 2 3 1 2 None 46, XY 41037 1 2 3 3 1 47, XX, + 13 CVS 47, XX,+ 13 4104C 1 2 3 1 1 None 46, XX 41053 3 1 2 1 2 1 46, XX None 41054 1 4 3 2 23 None Failed 41068 1 2 3 1 1 None 46, XY 41076 1 2 3 1 1 47, XXY 47, XXY 41082 1 2 3 1 1 47, XX,+21 47, XX, + 21 41087 2 3 1 1 2 47, XX, +21 47, XX, + 21 41095 1 2 2 1 1 None 46, XY 41214 1 3 3 3 1 47, XX,+ 21 47, XX, + 21 4121S 1 4 3 3 1 47, XY, + 21 47, XY, + 21 41220 2 2 1 1 1 None 46, XX 41229 1 2 3 1 1 None 46, XY 41231 1 2 1 3 1 1 None 46, XX 41235 1 2 3 1 1 None None 41267 1 1 3 3 1 None 46, XY 41280 1 2 1 1 1 46, XX None 41284 2 4 2 2 1 None 46, XX 41290 1 2 3 2 1 45, X / 46, XX CVS 45, X / 46, XX 41299 4 4 1 3 1 1 46, XX None 41400 1 2 1 3 1 1 46, XX None 41404 2 2 2 1 1 46, XY Failed 41427 1 2 3 1 1 None 46, XX 41431 2 1 1 1 1 2 46, XX 46, XX 41434 1 2 1 3 2 3 47, XY, + 21 47, XY, + 21 41436 3 1 11 21 11 47, XX, + 21 & 46, XY None 41462 1 2 10 1 1 1 23 46, XX None 41465 1 4 3 1 1 46, XY 46, XY 41469 1 2 1 3 2 1 46, XX 46, XX 41473 3 1 1 3 2 2 None 45, X 41474 2 2 2 1 1 46, XY 46, XY 41490 2 1 1 1 1 None 46, XY 41499 1 2 3 2 1 None 47, XY, + 13 41600 1 2 3 2 2 69, XXX Cordo 69, XXX 41625 1 2 3 1 1 None 46, XY 41637 2 1 1 2 2 46, XY None 41640 2 1 1 1 2 2 46, XY, del( 6)(p25) Cordo 46, XY, del( 6)(p25) 41667 1 2 1 1 1 1 None 46, XY 41678 1 2 1 3 1 1 None 46, XX 41690 3 4 2 1 1 1 None 46, XY 41698 2 1 1 3 1 1 None 46, XY 41813 1 2 1 3 3 2 46, XY, (der18)t(11;18) 46, XY, (der18)t(11;18)(p14.3:q21.3) 41834 2 1 1 2 2 46, XY None 41837 1 1 1 3 1 1 46, XY, t(2;12) CVS 46, XY, t(2;12)(q13;p11.2) balanced 41869 3 1 2 1 1 2 46, XY from aspirated fetal bladder fluid None 41876 1 3 1 2 1 1 None 46, XY 41878 2 2 1 1 2 1 47, XX, + 18 47, XX, + 18 41883 1 3 1 3 1 1 46, XX None 41886 2 1 1 1 2 1 46, XX CVS None Appendix IV Evaluation at Autopsy Case Method Site Cervical Preterm CNS Heart Kidney Fetal Karyotype -Prenatal Fetal Karyotype - Postnatal No: of T/A of T/A Dilators Demise Exam Exam Exam 42018 1 2 3 3 1 47, XX, + 21 47, XX, + 21 42023 1 2 1 3 3 1 47, XY, + 21 47, XY, + 21 42033 3 1 1 11 22 11 46, XX and Failed None 42044 2 1 1 1 2 2 Not Known at TA 69, XXY amnio 42065 1 2 1 3 3 1 46, XX None 42066 1 4 3 3 1 47, XX, + 13 None 42087 1 1 3 2 1 47, XX, + 18 CVS 47, XX, + 18 42248 2 1 1 2 2 Failed Failed 42254 1 2 3 2 2 47, XX, + 13 47, XX, + 13 42261 2 4 2 2 1 None 46, XY 42268 2 1 1 2 2 2 None Failed 42289 2 1 2 2 2 None Failed 42294 1 2 1 3 1 1 None 46, XX 42336 1 3 1 3 3 1 47, XX, + 13 Failed 42401 1 2 3 1 1 46, XX, t(6:11)(p21.1;p15.5) de novo 46, XX, t(6:11 )(p21.1 ;p15.5) de novo 42414 1 2 3 0 1 47, XX,+ 18 CVS 47, XX, + 18 42427 1 1 12 3 2 1 46, XX 46, XX 42431 2 2 1 3 2 1 47, XX,+ 18 None 42436 1 2 3 0 3 47, XY, + 21 47, XY, + 21 42444 2 1 3 1 23 46, XX None 42473 1 4 3 1 1 46, XX None 4247S 2 1 1 1 1 46, XY None 42481 4 1 2 3 1 1 None Failed 4249C 1 3 3 3 1 None 46, XX 42545 1 2 3 2 1 None 45, X 42603 2 2 1 2 1 47, XX, + 18 None 42604 2 4 1 2 1 46, XY 46, XY 42605 1 1 3 2 1 None 47, XX, + 18 42608 2 1 2 3 1 1 None 46, XX 42611 3 4 1 1 1 None None (Formaline) 42612 1 2 2 3 2 1 None Failed 42634 1 2 1 3 2 2 45, X None 42642 2 1 1 2 1 None 46, XX 42671 2 1 2 2 1 None 46, XX 42684 1 2 3 3 2 Not Known at TA 69, XXY 42691 1 1 8 3 2 1 47, XX+ 21 47, XX, + 21 42804 1 1 3 1 2 46, XX 46, XX 4281C 1 1 3 2 2 None 46, XY 4282C 1 1 3 3 1 47, XY,+ 21 CVS 47, XY, + 21 42826 1 2 3 1 1 46, XY 46, XY 42843 1 1 3 1 1 46, XX 46, XX 42845 4 3 1 3 1 1 47, XY, + 21 CVS 47, XY, + 21 42862 2 1 1 2 2 1 46, XY 46, XY 42884 2 1 21 11 22 46, XX & 46, XX None 43036 1 1 3 1 1 46, XX, t(14q;21q) CVS 46, XX, -14,+t(14q;21q) 43056 2 1 1 2 2 46, XY 46, XY 43068 2 1 1 1 1 2 None 46, XY 43069 2 1 1 2 1 1 None 46, XY 43080 1 2 3 1 1 47, XX, + 21 47, XX, + 21 43096 3 4 2 1 1 1 47, XX, + 21 Failed 43099 1 1 2 1 1 2 Normal Normal 43228 1 1 1 3 1 1 47, XXY None 43241 1 1 10 1 2 1 47, XX, +21 47, XX, + 21 43247 1 1 1 3 2 2 46, XY 46, XY 43253 2 1 1 1 1 1 None 46, XX 43261 1 1 8 3 2 1 Failed 47, XX, + 18 43276 2 1 2 33 11 21 46, XX / 46, XX twins None 43299 1 1 3 3 3 None 46, XX 43404 1 3 1 3 1 1 None 46, XY 43445 1 1 9 3 1 2 2 47, XY, +18 47, XY, + 18 43447 1 1 10 1 3 1 1 47, XX, + 21 47, XX, + 21 43450 1 1 12 1 3 1 1 47, XY, + 21 47, XY, + 21 43465 1 1 1 3 1 1 46, XY 46, XY 43467 1 1 10 3 1 1 46, XX None 43468 1 1 8 1 3 2 1 45, X CVS 45, X 43474 2 1 1 1 1 None 46, XY 43480 1 1 12 3 3 1 None Failed 43488 1 1 8 33 23 11 None 46, XY both twins 4348S 1 1 11 1 3 2 1 47, XY, +13 47, XY, + 13 43493 1 1 11 1 3 1 2 None 46, XY 43494 2 1 2 2 1 1 46, XY / 47, XY + Marker 46, XY / 47, XY + Marker 43496 1 4 3 3 3 2 46, XX 46, XX 43619 2 4 1 1 2 None 46, XX 45, XX, -18, +der(22), t(18;22)(q11;p11) 43622 1 1 3 1 1 45, XX, der <22),t(18;22) de novo Appendix IV Evaluation at Autopsy 202 Case Method Site Cervical Preterm CNS Heart Kidney Fetal Karyotype -Prenatal Fetal Karyotype - Postnatal No: of T/A of T/A Dilators Demise Exam Exam Exam 43627 2 1 2 1 1 46, XX 46, XX 43635 4 1 3 2 3 47, XX,+ 18 CVS 47, XX,+ 18 43648 1 1 10 1 3 1 1 47, XX, + 21 47, XX,+21 43656 1 3 1 1 46, XX None 43659 1 6 3 3 1 47, XY, +18 47, XY + 18 43673 1 12 1 . 2 1 47, XY, +21 47, XY, + 21 43695 1 12 3 1 1 47, XY, + 21 47, XY, + 21 4383C 1 9 3 2 2 None 45, X 43834 1 2 3 1 1 46, XX Failed 43835 1 12 3 3 3 2 None 46, XY 43838 1 1 1 1 1 None 46, XY 43843 1 1 6 3 2 1 47, XX, + 21 47, XX,+21 43851 1 1 6 3 1 1 None 47, XX, + 21 43868 1 9 1 2 1 47, XX, + 13 47, XX, + 13 43882 1 9 3 1 2 None 46, XY 43897 1 1 2 3 2 3 None 46, XY 44001 1 1 5 3 1 1 None 46, XX and 46, XX 44028 2 1 7 2 3 1 1 None 46, XY 44031 2 1 2 2 2 None 46, XY 44091 2 1 1 1 2 None 46, XY 44092 4 2 3 1 1 46, XY CVS Failed 44180 1 1 12 3 1 2 46, XX 46, XX 44209 2 1 2 3 2 2 None 46, XY 44211 2 1 1 1 1 1 47, XY,+ invdup(15) 47, XY, + invdup (15)(q12) 44216 1 1 6 1 3 2 1 None 45, X 44223 2 1 2 1 1 47, XXX 47, XXX 44230 1 1 9 1 3 1 1 46, XY / 47, XY, + 21 46, XY / 47, XY, + 21 44247 2 1 1 1 1 2 46, XY 46, XY 44252 1 1 11 2 1 1 None 46, XX 44255 1 1 9 1 2 1 47, XX,+ 18 47, XX, + 18 44264 2 1 1 1 1 23 46, XX, del (4p) 46, XX, del (4p) 45, XX,-18,+der18 44271 1 ! 9 3 1 1 45, XX, - 18, +der(18), t(18;21) t(18;21)(p11.2;q11.2), -21 44289 1 1 10 3 2 23 46, XY 46, XY 44294 1 1 9 1 2 1 47, XX, + 21 47, XX, + 21 44400 1 1 1 1 2 1 None 45, X 44405 1 1 4 3 1 1 None 46, XY 44413 1 3 1 1 47, XXY 47, XXY 44427 1 . 3 2 1 47, XY, + 21 47, XY, + 21 44452 2 1 1 2 1 47, XX, +21 47, XX, + 21 44474 2 1 1 1 1 47, XY, + 21 47, XY, + 21 44479 1 1 1 3 2 2 Not Known at TA 45, X 44486 1 1 1 2 1 1 None 46, XY 44488 1 1 1 2 2 None 45, X 44489 1 3 1 1 47, XX,+ 21 47, XX, + 21 44495 1 1 2 1 1 None 46, XY 44499 1 1 2 1 1 None 46, XY 44606 2 1 3 1 2 None 46, XX 44622 1 1 3 3 2 47, XX, + 13 CVS 47, XX, + 13 44635 4 2 3 3 3 None 47, XX,+ 18 44638 2 1 1 1 1 1 None 46, XX 44642 3 1 2 1 2 1 None 46, XY 44660 2 1 1 1 1 23 None 46, XY 44662 1 1 12 3 1 1 46, XY None 44665 1 1 4 3 2 2 Not Known at TA 47, XX,+ 18 44688 2 1 23 13 13 None 46, XY twin A / 46, XX twin B 44801 1 1 1 3 1 1 None 46, XX .44802 1 1 12 1 3 1 1 None 47, XX, + 21 44835 2 1 1 2 1 47, XX, + 18 47, XX,+ 18 44838 2 1 1 1 2 46, XX 46, XX 44848 1 1 2 1 2 None 46, XX 44855 2 1 1 2 1 Not Known at TA 45, X 44856 2 1 2 1 2 69, XXX None 44859 2 1 3 1 1 46, XY 46, XY 44863 2 1 3 2 1 Not Known at TA 47, XY,+ 21 amnio 44870 2 1 1 2 2 46, XX,-14, + t(13:14) 46, XX,-14, + t(13:14) 44887 1 1 3 2 1 46, XY Cordo 46, XY 44895 2 2 1 1 1 46, XX 46, XX 45005 1 1 1 3 1 1 45, X / 46, X + Marker CVS 45, X / 46, X, dic(Y)(qter - p11 - qter) 45011 1 1 14 1 3 3 3 None 46, XY 45028 1 3 2 1 None 47, XX, + 18 45035 2 1 2 1 1 None 46, XX 45054 1 1 3 1 1 1 1 47, XX,+ 21 47, XX, + 21 45059 1 1 7 1 3 1 1 46, XX None 45060 1 1 7 1 2 1 1 None 46, XY Appendix IV Evaluation at Autopsy 203 Case Method Site Cervical Preterm CNS Heart Kidney Fetal Karyotype -Prenatal Fetal Karyotype - Postnatal No: of T/A of T/A Dilators Demise Exam Exam Exam 45075 1 4 3 3 1 47, XX, + 21 47, XX, + 21 45084 1 1 10 1 2 1 1 None 46, XY 45210 2 1 2 1 2 46, XX None 45215 2 1 2 1 2 None 46, XX 45224 1 2 3 1 23 46, XY 46, XY 45247 1 1 3 1 1 47, XY, + 21 / 48, XY, +7, +21 CVS 47, XY, + 21 45248 1 1 11 3 1 2 None 46, XY 3892902 2 1 2 2 2 None 46, XY 4284502 2 1 2 2 2 47, XX, + 18 47, XX, + 18 204 Appendix V Coding Indication for Medical Genetics Referral: 1 = Ultrasound Abnormality 4 = Advanced Maternal Age 2 = CVS Abnormality 5 = Family History 3 = Amniocentesis Abnormality 6 = Increased MSAFP Indication for Ultrasound Examination 1 = Ultrasound Abnormality 4 = Advanced Maternal Age 2 - CVS Abnormality 5 = Family History 3 = Amniocentesis Abnormality 6 = Increased MSAFP Amniotic Fluid Volume 1 = Normal 5 = Mild Polyhydramnios 2 = Mild Oligohydramnios 6 = Moderate Polyhydramnios 3 = Moderate Oligohydramnios? : Severe Polyhydramnios 4 = Severe Oligohydramnios Termination Site 1 = B.C.'s Women's Hospital 3 = Lions Gate Hospital 2 = Vancouver General Hospital 4 = Other Termination Method 1 = Dilatation and Evacuation 4 = Dilatation and Curettage 2 = Labour Induction 4 = Cesarean Section 3 = Stillbirth Pretermination Fetal Demise 1 = No pretermination Demise 3 = KC1 induced intrauterine demise 2 = Intrauterine demise Tissues Examined at Autopsy: 1 = Normal 2 = Abnormal Ultrasound Findings: Comment Code: 0 = Narrow BPA Code 5 = Normal 1 = Not Seen/Identified6 = Anomaly/Abnormality 2 = Poorly Seen/Identified 7 = Size Is Equal To Dates 3 = Increased echogenecity 8 = Possible Diagnosis 4 = Decreased echogenecity Broad Code: The first three digits of the code corresponding to the abnormality from the British Paediatric Association Classification of Diseases (BPACD). Narrow Code: The entire code from the BPACD. Autopsy Findings: Broad Code: The first three digits of the code corresponding to the abnormality from the British Paediatric Association Classification of Diseases (BPACD). Narrow Code: The entire code from the BPACD. 205 Appendix VI Multiple Logistic Regression Formulae The following statistically significant multiple logistic regression formulas can be used to predict the probability of a response variable based upon information about the explanatory variables: logit(prob. of surgical TA) = 6.1397 + 0.777 (if abnormal chrom.) - 0.3326 (per week of gest.); logit(prob. of CNS exam) = -6.4291 + 0.9758 (if normal chrom.) + 0.228 (per week of gest); logit(prob. of heart exam) - -1.8588 + 1.0618 (if normal chrom.) + 0.1744 (per week of gest); logit(prob. of kidney exam) = -2.3813 + 0.3029 (per week of gest).