Genetic counseling in perinatal medicine.

The obstetrician/perinatologist should be well informed about recent advances in human genetics that directly impact patient care. New indications for molecular analyses, specific limitations in their usage, and the need for interpretation of complex laboratory results emphasize the increasingly necessary clinical genetics consultation. The advent of DNA-based presymptomatic or predictive testing introduces dilemmas for patients and their families, and raises medical, legal, and ethical issues in genetic counseling.

Results and benefits of a maternal serum alpha-fetoprotein screening program.

Maternal serum alpha-fetoprotein (MSAFP) screening was offered in a private suburban practice to 21,000 nondiabetic and 442 diabetic women with apparently normal pregnancies. Using 2.5 or greater multiples of the median as the normal upper limit, 249 (1.2%) had a raised MSAFP level. There were 25 neural tube defects (NTDs) (1.2/1,000 births); 18 were detected by screening and two by ultrasound scanning. Three had closed spina bifida lesions. Two had anencephaly with normal MSAFP levels, but were studied at more than 24 weeks' gestation. An additional 13 with raised MSAFP levels had other congenital defects. One in 400 women screened had a recommended amniocentesis; 26.4% of them had a fetus with an NTD or major malformation. Our detection efficiency before 24 weeks' gestation for anencephaly was 85.7% (12/14), 62.5% (5/8) for open and closed spina bifida, and 1/1 for encephalocele. A raised MSAFP level occurred in ten (2.3%) of the 442 diabetic women, four (0.9%) of whom had a fetus with an open NTS. A screening program should be established only where there is linked excellent interdisciplinary support among obstetrician, laboratory, clinical geneticist, ultrasonographer, and an identified program coordinator.

KIE: Maternal serum alpha-fetoprotein (MSAFP) screening was offered in a private practice to 21,000 nondiabetic and 442 diabetic women with apparently normal pregnancies. The study identified a group of women at high risk (13%) for having offspring with fetal anomalies, including neural tube defects, or for other adverse pregnancy outcomes. The investigators concluded that MSAFP screening is medically appropriate for diabetic women and as a voluntary option in normal pregnancy. They strongly caution, however, against use of MSAFP screening outside of an established program coordinating the expertise of the obstetrician, clinical geneticist, ultrasonographer, and experienced laboratory staff.

Policy analysis for prenatal genetic diagnosis.

Consideration of the analytic difficulties faced in estimating the benefits and costs of prenatal genetic diagnosis, coupled with a brief review of existing benefit-cost studies, leads to the conclusion that public subsidy of prenatal testing can yield benefits substantially in excess of costs. The practical obstacles to such programs include the attitudes of prospective parents, a lack of knowledge, monetary barriers, inadequately organized medical resources, and the political issue of abortion. Policy analysis can now nevertheless formulate principles and guide immediate actions to improve present utilization of prenatal testing and to facilitate possible future expansion of these diagnostic techniques.