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Dr. Meena Thesis Reg. No. 20101554

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Dr. Meena Thesis Reg. No. 20101554 A Dissertation on FETAL NUCHAL TRANSLUCENCY BY ULTRA SOUND - A SCREENING TOOL FOR FETAL ABNORMALITIES Dissertation submitted to THE TAMIL NADU Dr. M. G. R. MEDICAL UNIVERSITY CHENNAI. with partial fulfillment of the regulations for the Award of the degree of M.D., (Obstetrics & Gynaecology) Branch – II STANLEY MEDICAL COLLEGE CHENNAI - 600 001. APRIL 2012 BONAFIDE CERTIFICATE Certified that this dissertation is the bonafide work of Dr. M.MEENA on “FETAL NUCHAL TRANSLUCENCY BY ULTRASOUND - A SCREENING TOOL FOR FETAL ABNORMALITIES” during her M.D., (Obstetrics & Gynaecology) course from April 2010 to April 2012 at the Stanley Medical College and Raja Sir Ramasamy Mudaliar Lying-in Hospital, Chennai. Prof.Dr.N.Hephzibah kirubamani, Prof.Dr.P.Vasanthamani,M.D.,D.G.O., M.D., D.G.O.,MICOG., Ph.D, Professor & Head of the Department Professor & Chief of the Department Dept. of Obstetrics & Gynaecology, Dept. of Obstetrics & Gynaecology, Stanley Medical College & Stanley Medical College & RSRM Lying In Hospital, RSRM Lying In Hospital, Chennai –600 013. Chennai –600 013. Prof. Dr. S. GEETHA LAKSHMI, M.D., Ph.D DEAN, Stanley Medical College & Hospital, Chennai – 600 001. DECLARATION I solemnly declare that the dissertation titled “FETAL NUCHAL TRANSLUCENCY BY ULTRASOUND - A SCREENING TOOL FOR FETAL ABNORMALITIES” is done by me at RSRM Lying in Hospital, Stanley Medical College and Hospital, Chennai during November 2010 to October 2011 under the guidance and supervision of Prof. Dr.P. Vasanthamani, M.D., D.G.O., Professor and Chief of the Department of Obstetrics and Gynaecology, Stanley Medical College & RSRM Lying in Hospital, Chennai-13. This dissertation is submitted to the Tamilnadu Dr. M.G.R Medical University towards the partial fulfillment of requirements for the award of M.D. Degree (Branch II) in Obstetrics and Gynaecology. Place : Chennai Date : 21-12-2011 Dr.M.Meena ACKNOWLEDGEMENT At the outset, I would like to place on record my deep sense of gratitude to the Dean, Stanley Medical College, Chennai Prof. Dr. S. Geetha Laksmi, M.D., Ph.D, for her kind permission to use the hospital resources for this study. I would like to express my sincere gratitude to my beloved Professor and Head of the Department of Obstetrics and Gynaecology Prof.Dr.N.Hephzibah kirubamani, M.D., D.GO., MICOG., Ph.D, RSRM Lying-in Hospital, for allowing me to undertake this study on “FETAL NUCHAL TRANSLUCENCY BY ULTRASOUND - A SCREENING TOOL FOR FETAL ABNORMALITIES” with much avidity. In keeping with the maxim, “All is well that ends well”, I was able to carry out my study to my fullest satisfaction, thanks to guidance, encouragement, motivation and constant supervision extended to me, by my beloved Chief Prof. Dr.P.Vasanthamani M.D., D.G.O., Professor and Chief of Unit I. Hence my profuse thanks are due for her. I would like to place my sincere thanks to Prof.Dr.K.Ruckmani M.D., D.G.O., and all the Unit chiefs for their moral support. I would be failing in my duty if I don’t place on record my sincere thanks to those patients who were the subjects of my study. I am bound by ties of gratitude to my respected Assistant Professors Dr.S.Lavanya, Dr.J.Arumaikannu, Dr.A.Shanthi , and all the Assistant Professors in general, for placing, guiding and goading me on the right track from the very beginning of my career in Obstetrics and Gynaecology and till this day. I am fortunate to have my colleague postgraduates of RSRM Lying in hospital for their invaluable suggestions, relentless help for shouldering my responsibilities. Simply words cannot express its depth for their unseen contributions. I am also thankful to my parents, sister and lastly, my lovable thanks to my husband and my sons and all the family members for their moral support. I thank the Almighty for his immense blessings and support throughout my life. CONTENTS Page No. 1 INTRODUCTION 1 2 AIMS AND OBJECTIVES 4 3 REVIEW OF LITERATURE 5 4 MATERIALS AND METHODS 38 5 RESULTS AND ANALYSIS 42 6 DISCUSSION 57 7 SUMMARY 61 8 CONCLUSION 63 9 BIBLIOGRAPHY 10 ANNEXURES PROFORMA MASTER CHART KEY TO MASTER CHART ABBREVIATIONS ASD - Atrial septal defect β –HCG - β Human chorionic gonadotrophin CHD - Congenital heart disease CVS - Chorionic villous sampling GDM - Gestational Diabetes Mellitus LSCS - Lower segment caesarean section MA - Maternal age MAS - Meconium Aspiration Syndrome MSAFP - Maternal serum α fetoprotein NB - Nasal bone NT - Nuchal translucency PAPP-A - Pregnancy associated plasma protein- A PROM - Premature rupture of membranes VSD - Ventricular septal defect Introduction INTRODUCTION Prenatal diagnosis of fetal structural malformations during either the first or the second trimester has helped to reduce perinatal morbidity and mortality and also helped in early termination of an anomalous fetus. Although many major fetal defects are diagnosable in the first trimester, the diagnostic accuracy is significantly higher in the mid-second trimester owing to the larger size and more advanced development of the fetus. Mid second trimester screening method is not an ideal tool and search is on for early markers. A great deal of interest has been directed towards shifting prenatal screening for chromosomal abnormalities and fetal structural abnormalities to the first trimester (11-14 weeks of gestation) using the sonographic measurement of the fetal Nuchal Translucency (NT) alone or in combination with serum markers [Pregnancy associated plasma protein A (PAPP-A) + free β human chorionic gonadotrophin ( β-HCG)] 1,9 . History of NT measurement Sonographic screening of aneuploidy became a reality in 1985 when Beryl Benacerraf demonstrated thickened nuchal fold in a Downs syndrome fetus 2. Dr. Langdon Down (it is after his name that Downs syndrome has been named) 100 years back, reported that skin of affected fetus at the back of the neck was too large and swollen. This excess skin thickness can be easily studied by ultrasound as Nuchal Translucency (at 11-14 weeks of gestation) 3. Fetal Nuchal translucency thickness at 11-14 weeks scan has been combined with maternal age to provide an effective method of assessing the risk for chromosomal anomalies. In addition increased nuchal translucency identifies a higher proportion of major cardiac defects, skeletal defects and a wide range of genetic syndromes 4. For example, Nicolaides (2004) reported approximately 90% sensitivity for trisomies 18 and 13 with a 1% false positive rate 5. There is also strong association between increasing nuchal translucency and fetal cardiac anomalies. (Atzei and colleagues 2005; Simpson and colleagues 2007) 6,7 . Moreover, results may be abnormal in the setting of a number of structural fetal anomalies (Souka and colleagues 2001) 8. It is widely accepted that the measurement of NT to screen fetal abnormalities should be combined with a search for detectable malformations. The American college of Obstetricians and Gynecologists (2007b) recommends that when the nuchal translucency measurement is 3.5 mm or greater with a normal fetal karyotype, then targeted sonographic examination, fetal echocardiography, or both should be considered 9. Visualization of normal fetal anatomy in the first trimester provides reassurance to the patient and reduces anxiety. Early detection of fetal structural malformations allows timely referral to a tertiary centre. For an invasive testing rate of 5% about 75% of trisomic pregnancies can be identified. Assessment of risk for chromosomal defects in the first trimester rather than the second trimester provides the option for earlier invasive diagnostic testing and consequently results in fewer traumas for those couples choosing termination of an affected pregnancy. NT as a screening tool for fetal aneuploidy are less sensitive in younger women because of lower prevalence rates. Gestational age also affects the accuracy of Downs syndrome detection. Testing sensitivity is approximately 5 percent lower if performed at 13 weeks instead of 11 weeks 10 . A study group of the Royal College of Obstetricians and Gynaecologists has recommended that there is now sufficient evidence to support routine first-trimester nuchal translucency screening with appropriately trained sonographers using high resolution equipments, provided that the results should be subjected to an external agency for regular audit 11 . Aims & Objectives AIMS AND OBJECTIVES 1. To assess fetal Nuchal translucency (NT) in an unselected population of pregnant women with viable singleton pregnancies. 2. To assess usefulness of increased NT in identifying abnormal fetuses. Review of Literature REVIEW OF LITERATURE NUCHAL TRANSLUCENCY 1. DEFINITION The Nuchal translucency is defined as the maximum thickness of the subcutaneous translucency between the skin and soft tissues overlying the cervical spine of the fetus and is typically observed in the first trimester (11 to 14 weeks) 4 ULTRA SOUND PICTURES OF FETAL NUCHAL TRANSLUCENCY First trimester Fetus Midsagittal view for measuring NT by ultrasound Normal NT Abnormal NT 2. NORMAL NT MEASUREMENTS Fetal nuchal translucency thickness increases with crown – rump length (CRL) and, therefore, it is essential to take gestation into account when determining whether a given translucency thickness is increased 12-14 . CRL vs Gestational age (weeks) Nuchal Translucency normally increases with gestation (CRL) The 50 th percentile values for NT thickness are 1.2 mm and 1.9 mm for a CRL of 45mm (11 th week) and 85 mm (13 weeks+6 days) respectively, and the 95 th percentile values are 2 mm and 2.8 mm respectively. 15 Currently the more accepted method is to base the cut off on a progressive rise, using the 95 th percentile as the threshold for an abnormal measurement resulting in a more sensitive and specific indicator for the detection of an anomalous fetus. Centile chart for NT 3. RISK FOR TRISOMY BASED ON NT Less than 2.5 mm: risk is 5 times lesser for that age More than 2.5 mm: 12 fold increased risk.
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