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Lancet. 2000 Nov 25;356(9244):1819-20.

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.

PMID:
11117917
DOI:
10.1016/s0140-6736(00)03237-2
[Indexed for MEDLINE]

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