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pubmed:otherAbstract |
PIP: Amniocentesis is used for detection of genetic abnormalities. One difficult problem to resolve is the consequence of finding 1 abnormal and 1 normal fetus in cases of twin pregnancies. A review of the literature reveals 5 cases of 1 abnormal and 1 normal fetus in twin pregnancies. A most aggressive approach to this problem is selective termination of the abnormal fetus by intracardiac puncture and exsanguination. This report describes a case of twin pregnancy with discordancy for trisomy 21. Amniocentesis was performed on a 40-year-old nullipara who was 17 weeks pregnant. Advanced maternal age was the indication for the procedure. An ultrasound scan and chromosomal studies revealed twin fetuses, twin A with a normal karyotype (46, XY), and twin B with indicated trisomy 21 (46, XY + 21). After an extensive counseling session, the mother decided to undergo selective termination of the abnormal fetus. At 20 weeks' gestation, the procedure was carried out under real-time ultrasound guidance as described. At 40 weeks gestation, the patient delivered a 2980 g living male infant and a 120 g small, fibrosed, and infarcted fetus papyraceus (twin B). Both mother and surviving infant continue to do well. The risks of performing selective termination of abnormal fetuses, and technical considerations in this type of procedure are discussed.
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