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Prenatal Diagnosis of Chromosomal Abnormalities: Analysis of 1000 Consecutive Amniotic Fluids

Cytogenetic studies have been performed on 1,000 amniotic fluid specimens referred for prenatal diagnosis. Two‐thirds of the patients had strong clinical indications for prenatal chromosome studies and the remaining one‐third were referred because of maternal anxiety or a family history of neural tube defect. A total of 18 affected fetuses were detected in this series (1.8%) and these included 3 male fetuses in patients with a history of sex‐linked disorder and 15 fetuses with chromosome abnormalities. The overall culture success rate was 97.4% and the average time taken to obtain sufficient material for initial chromosome analysis was 13 days. Fetal loss within 4 weeks of the amniocentesis was 1.2%.