Prenatal genetic diagnosis in 350 amniocenteses.
Three hundred and fifty second trimester amniocenteses performed for prenatal diagnosis of genetic disorders are reported. One hundred and ninety-three of these were performed because maternal age was greater than 35 years, and 6 fetuses with unbalanced chromosomal abnormalities (3%) were identified. Thirteen procedures were performed because a previous child had had a neural tube defect; 1 anencephalic fetus was identified. Ninety-six percent of the initial taps were cultured successfully; we failed to obtain amniotic fluid in 3% of patients. The risk of a spontaneous abortion occurring at some time after the amniocentesis was 0.85%, and no cases of fetal injury were identified.
D000328:Adult; D000649:Amniocentesis; D002490:Central Nervous System / Q000002:abnormalities; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D000013:Congenital Abnormalities / Q000175:diagnosis*; D004314:Down Syndrome / Q000175:diagnosis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D007713:Klinefelter Syndrome / Q000175:diagnosis; D008297:Male; D008423:Maternal Age; D009030:Mosaicism; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D012729:Sex Chromosome Aberrations / Q000175:diagnosis; D014314:Trisomy