[Problems, methodology and 1st results in the prenatal cytogenic diagnosis of genetic defects].
24 patients were admitted for the prenatal diagnostics of genetic defects. In 20 patients a culture of amniotic fluid cells was necessary; Indicators for a culture of amniotic fluid cells were: state after the birth of a child with mongolism (12), D/G-translocation in the mother (1), familial burden of mongolism (2), sex determination for X-chromosomally inherited progressive muscular dystrophy and haemophilia (4), and the influence of exogenic noxae (1). For sex diagnostics only a smear preparation was obtained in one case. 3 women had an abortion before admission to the hospital and amniocentesis. No indication for cultivation of amniotic fluid cells exists in 4 cases. Therefore a culture of amniotic fluid cells was performed in 16 patients. In one patient the culture of amniotic fluid cells was unsuccessful. Problems and indications are considered in detail.
D000649:Amniocentesis; D000653:Amniotic Fluid / Q000032:analysis; D002869:Chromosome Aberrations; D003582:Cytogenetics; D004314:Down Syndrome / Q000235:genetics; D005260:Female; D006467:Hemophilia A / Q000235:genetics; D006801:Humans; D009136:Muscular Dystrophies / Q000235:genetics; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic
Probleme, Methodik und erste Ergebnisse in der pränatalen zytogenetischen Diagnostik genetischer Defekte