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%.
D000026:Abortion, Habitual; D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology*; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D003582:Cytogenetics; D004314:Down Syndrome / Q000175:diagnosis; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis; D006801:Humans; D008423:Maternal Age; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D018566:Pregnancy, High-Risk; D011296:Prenatal Diagnosis