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Invasive Prenatal Diagnosis: Amniocentesis 1Mariana Theodora, 2Panos Antsaklis, 3Aris Antsaklis

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Invasive Prenatal Diagnosis: Amniocentesis 1Mariana Theodora, 2Panos Antsaklis, 3Aris Antsaklis DSJUOG Invasive10.5005/jp-journals-10009-1417 Prenatal Diagnosis: Amniocentesis REVIEW ARTICLE Invasive Prenatal Diagnosis: Amniocentesis 1Mariana Theodora, 2Panos Antsaklis, 3Aris Antsaklis ABSTRACT Amniocentesis was used for diagnostic reasons In this article, we will review the history and the evolution of in the ‘50s, as a method for sex determination by the the technique of amniocentesis and the indications of the identification of Barr bodies in the noncultured amnio- most common invasive diagnostic and therapeutic procedure. cytes.5 About 10 years later, Steele and Breg reported in Moreover, the most common complications of amniocentesis their paper in Lancet that the karyotype of the embryo will be presented. Finally, we will try to establish if the use of 6 con current ultrasound had any effect on the prevalence on was determined through an amniotic fluid cell culture. these complications. During the same year Thiede et al published similar Keywords: Amniocentesis, Invasive prenatal diagnosis. findings later. The first case of prenatal diagnosis of Trisomy 21 (Down syndrome) was reported in 1968 How to cite this article: Theodora M, Antsaklis P, Antsaklis A. Invasive Prenatal Diagnosis: Amniocentesis. Donald School J by Nadler. In 1970, Nadler and Gerbie published the Ultra sound Obstet Gynecol 2015;9(3):307-313. ‘Role of amniocentesis in the intrauterine diagnosis of Source of support: Nil genetic defects’ in the New England Journal of Medicine. This article was an innovation concerning genetic Conflict of interest: None amniocentesis and diagnosis and since then genetic laboratories for analysis of amniotic fluid had become HISTORY OF THE PROCEDURE prevalent and indications for genetic amniocentesis Amniocentesis is the first invasive procedure used in included the detection of chromosomal abnormalities, fetal medicine for both prenatal diagnosis and therapy. gene disorders, X-linked conditions, inborn errors of Although amniotic fluid withdrawal has been practiced metabolism, and the neural tube defects. for more than 150 years, the first reported cases of Amniocentesis has been established as a basic inva- transabdominal evacuative amniocentesis were those of sive method for the prenatal diagnosis of various preg- 1 Prochownick et al in 1877, Schatz in 1882 and Hinkel in nancy related conditions, such as fetal karyotyping, 1919 describing release of amniotic fluid from a patients diag nosis of metabolic or enzymatic diseases, assessment with polyhydramnios. Menees et al2 reported removal of the severity hemolytic disease, establishment of lung of amniotic fluid by transabdominal needling using a maturity, diagnosis of fetal infections. Additionally, radio-opaque contrast to outline the fetus and placenta. amniocentesis is used for the infusion of various drugs At the beginning of the 1950s3, it was used to into the amniotic cavity, determination of the composition determine the amniotic composition in cases of Rhesus of the amniotic fluid and finally for evacuation of isoimmunization and to correlate it with the severity of hydramnion. the condition of the newborn. Later on, Liley4 published the well-known correlation between the deviation of the spectral absorption curve of amniotic fluid resulting from EVOLUTION OF THE TECHNIQUE bilirubin and the severity of rhesus isoimmunization. During the 30s removal of amniotic was done by trans- Since Liley’s studies, the practice of amniocentesis in abdominal needling following injection of a radio-opaque pregnancies complicated by Rhesus disease was the contrast in order to outline the fetus and placenta. standard procedure in obstetric practice until Mary (Menees et al reported in 1930). Later on amniocenteses described the use of middle cerebral artery (MCA) peak were performed ‘blindly’ and the puncture site located velocity in predicting fetal anemia and the need for merely by external palpation of the uterus in the in-utero blood transfusion in a noninvasive way. abdomen. In 1967, Hofmann and Hollander in Germany stated the importance of placental localization using ultrasound before amniocentesis. Amniocentesis under 1-31st Department of Obstetrics and Gynecology, Department of Fetal Maternal Medicine, Alexandra Maternity Hospital ultrasound guidance was started to be implemented in University of Athens, Athens, Greece 1972, with reports from Bang and Northeved from Hans Corresponding Author: Marianna Theodora, 1st Department of Hendrik Holm at the Gentofe Hospital in Copenhagen. In Obstetrics and Gynecology, Department of Fetal Maternal Medicine the mid 1970s to mid 80s, amniocentesis was performed Alexandra Maternity Hospital, University of Athens, Vas Sofias 80 with the assistance of a static or realtime B-scan. A scan Athens 11527, Greece, e-mail: [email protected] was first performed to locate a feasible pocket of amniotic Donald School Journal of Ultrasound in Obstetrics and Gynecology, July-September 2015;9(3):307-313 307 Mariana Theodora et al fluid before a tap, the skin on top of that area was marked Table 1: Indications for amniocentesis and the puncture was done without actually seeing the Chromosome analysis needle tip going into the fluid pocket. 1. Advanced maternal age Improvement of ultrasound real time scanners in the 2. Abnormal biochemical screening in 1st or 2nd trimester late 1970s, a small number of centers started to perform 3. Ultrasound findings (major and minor markers) amniocentesis with the simultaneous visualization of 4. Family or personal history of chromosomal abnormalities in the puncture needle tip on the scanner monitor. One previous preganancies such pioneer was the Birnholz group at Harvard who 5. Abnormal parental karyotype used an early phased array for the purpose. Needle- 6. Maternal anxiety guide adapters soon became available from ultrasound DNA analysis 1. Genetic testing manufacturers which could be coupled to the linear array 2. Endocrine disorders or phased array sector probes where the needle passed Suspected fetal anemia through a fixed path either parallel or at an angle to the 1. Rhesus sensitization ultrasonic beam. These were difficult to use, however, 2. Fetal hydrops particularly in a busy setting. They also had serious Fetal Infection (PCR for CMV, Parvovirus, problem of keeping the equipment sterile. The adapters Toxoplasma Gondii etc.) may also increase the risk of traumatization as it did not Lung maturity allow for the ‘desired’ and sensitive placement of needles. Chorioamnionitis (diagnosis of possible infection) Many centers started to do a freehand technique Biochemistry with an assistant holding onto the transducer probe that Obstetric cholestasis Fetal therapy was commonly wrapped in a sterile adhesive drape. In 1984, Holzgreve in Basel, Switzerland described a large injury. Also aseptic technique and the use of anti-D series of over 3000 ‘freehand’ amniocenteses with low immuno globulin has eliminated the risk of maternal complication rate. Similar experience was also reported sepsis and rhesus sensitization. by Platt in Los Angeles, who emphasized on the need Fetal complications, though, are the main concern. for the transducer probe to be manipulated by the same They include fetal loss, placental abruption, preterm labor operator which resulted in better hand-eye co-ordination. and preterm rupture of membranes. Needle puncture 7 In the following year, Romero formally described the injuries of the fetus and injury due to with drawal of single operator two-hands technique in amniocentesis amnio tic fluid (e.g. amniotic bands) were rare especially and the reduction in the number of multiple taps and since amniocentesis is being performed under ultrasound bloody taps associated with the procedure. Most centers guidance. Amniocentesis may also cause intra-amniotic soon adopted the single operator technique, which infections through the introduction of microorganisms had become popular because of its convenience and into the amniotic cavity via the needle. In order to effectiveness. Newer needles were marketed with special eliminate the possibility of an infectious complication, external coating and echoluminance to enhance needle rules of asepsic procedures which apply in all surgical placement. Complication rates were reportedly lower procedures must be applied during amniocentesis, such with each successive improvement in technique. as the aseptic cleaning of the skin and using sterilized medical gloves and needles. However, endometrial INDICATIONS infections are not always related to amniocentesis, but may exist before the prenatal intervention.9,10 Amniocentesis is used for both prenatal diagnosis and fetal therapy. In Table 1, we summarize the main FETAL LOSS indications for amniocentesis. Fetal loss is the ultimate risk of genetic amniocentesis. When amniocentesis was first introduced in the clinical COMPLICATIONS OF AMNIOCENTESIS practice the risk of miscarriage due to the procedure could During amniocentesis, the fetomaternal unit is injured, not be estimated accurately because there was lack of and thus a number of complications may occur. Maternal ultrasound guidance and lack of determination of fetal complications are rare. They include perforation of the viability before the procedure. intra-abdominal viscera with subsequent intra-abdominal Since fetal miscarriage does not occur only in asso- infection, sepsis, bleeding, blood group sensitization and ciation with amniocentesis, the background loss rate uterine contractions.8 The use of ultrasound guidance which is associated with
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