Prenatal detection of fetal Down's syndrome from maternal plasma.
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.
Poon
L L
LL
Leung
T N
TN
Lau
T K
TK
Lo
Y M
YM
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