[Amniocentesis in a woman with trisomy 21 and a fetus with normal karyotype but with abnormalities].
The limitation of amniocentesis is emphasised by a mother with trisomy 21 who had a baby with a normal karyotype but with malformations. The question is posed whether half the infants of women with trisomy 21 are normal and half have a trisomy. With more observations it may become apparent that there are an excess of children without the trisomy.
D000328:Adult; D000649:Amniocentesis; D000013:Congenital Abnormalities / Q000175:diagnosis*; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D011247:Pregnancy; D011248:Pregnancy Complications; D014314:Trisomy
Amniocentèse chez une trisomique 21 avec foetus à caryotype normal mais porteur de malformations.