title: Prenatal detection of fetal Down's syndrome from maternal plasma.
abstract: Fetal DNA is present in maternal plasma, and a proportion of such DNA is seen in intact fetal cells. We investigated the use of fluorescence in-situ hybridisation (FISH) techniques on maternal plasma samples. In plasma samples obtained from three women carrying fetuses affected by trisomy 21 (Down's syndrome), we identified fetal cells with three chromosome-21 signals. These results show the feasibility of non-invasive detection of fetal chromosomal aneuploidy by maternal plasma analysis.
authors: L L
authors: LL
authors: Poon
authors: T N
authors: TN
authors: Leung
authors: T K
authors: TK
authors: Lau
authors: Y M
authors: YM
authors: Lo
mesh_terms: D004314:Down Syndrome / Q000175:diagnosis* / Q000196:embryology; D005240:Feasibility Studies; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis