A clinical service for prenatal diagnosis.
A centralised clinical prenatal diagnostic service has been established and the results of amniocentesis in 174 patients are discussed. Termination of pregnancy was performed in 3 patients on the basis of cytogenetic abnormalities (47,XXY, 47,XXX, 47,XY 21+): in 2 patients with anencephalic fetuses on the basis of alpha-fetoprotein and ultrasound investigations, and 1 patient with fetal Hurler's syndrome. One mother, aged 45, refused amniocentesis and gave birth to a child with Down syndrome. Amniocentesis was followed by fetal death and abortion in 3 patients, all of whom had repeat amniocentesis. Cytogenetic results were not obtained from cell-culture in 9 out of 155 patients, but it was possible to explain all but 2 of the failures. An unexplained error in fetal sex determination occurred once.
D000022:Abortion, Spontaneous / Q000453:epidemiology; D000032:Abortion, Therapeutic; D000328:Adult; D000649:Amniocentesis; D000757:Anencephaly / Q000175:diagnosis; D002869:Chromosome Aberrations; D004314:Down Syndrome / Q000175:diagnosis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D005500:Follow-Up Studies; D005865:Gestational Age; D006801:Humans; D008297:Male; D008423:Maternal Age; D008875:Middle Aged; D008059:Mucopolysaccharidosis I / Q000175:diagnosis; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography; D000509:alpha-Fetoproteins / Q000032:analysis
D000509:alpha-Fetoproteins