Role of Amniocentesis in the Intrauterine Detection of Genetic Disorders

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Abstract
One hundred and sixty-two transabdominal amniocenteses were performed between the thirteenth and eighteenth weeks of fetal gestation as part of the management of 155 "high-risk" pregnancies. Successful cultivation of amniotic-fluid cells led to the intrauterine detection of Down's syndrome (10 cases), Pompe's disease (one case), lysosomal acid phosphatase deficiency (one case) and metachromatic leukodystrophy (one case). The risk of this procedure is low since neither fetal nor maternal complications were demonstrated in this series of patients. Cultivation of amniotic-fluid cells obtained by transabdominal amniocentesis early in the second trimester of pregnancy provides a method that enables parents at "high risk" for having offspring with certain serious genetic disorders to have children without risk of such a defect.