title: [Prenatal diagnosis of genetic defects from the amniotic fluid. Report of experiences].
abstract: 42 pregnancies were monitored by transabdominal amniocentesis followed by karyotyping. Biochemical assays of cultured amniotic fluid cells, 50 analysis of alpha1-fetoprotein and estimations of the number of y-bodies in the amniotic fluid cells was also made. One chromosomal aberration (47, XY, + 18) was found in 13 pregnancies tested because of advanced maternal age. In 6 pregnancies with a recurrence risk of Down's Syndrom, one fetus with abnormal karyotype (46, XY, 5p-) was detected.
mesh_terms: D000032:Abortion, Therapeutic; D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology*; D002869:Chromosome Aberrations; D000013:Congenital Abnormalities / Q000175:diagnosis*; D046508:Culture Techniques; D004314:Down Syndrome / Q000175:diagnosis; D005260:Female; D006801:Humans; D007621:Karyotyping; D008423:Maternal Age; D008661:Metabolism, Inborn Errors / Q000150:complications; D008875:Middle Aged; D006831:Polyhydramnios / Q000150:complications; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012730:Sex Chromosomes; D000509:alpha-Fetoproteins / Q000032:analysis
chemical_list: D000509:alpha-Fetoproteins
vernacular_title: Pränatale Diagnostik genetischer Defekte aus dem Fruchtwasser - Erfahrungsbericht.