Noninvasive fetal genome sequencing: a primer
نویسندگان
چکیده
منابع مشابه
Noninvasive fetal genome sequencing: a primer.
We recently demonstrated whole genome sequencing of a human fetus using only parental DNA samples and plasma from the pregnant mother. This proof-of-concept study demonstrated how samples obtained noninvasively in the first or second trimester can be analyzed to yield a highly accurate and substantially complete genetic profile of the fetus, including both inherited and de novo variation. Here,...
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The discovery of cell-free fetal DNA in maternal plasma in 1997 has catalyzed the development of noninvasive prenatal diagnosis (1 ). Fetal DNA represents on average approximately 15% of the total circulating DNA in maternal plasma. The advent of massively parallel sequencing has made possible the analysis of circulating fetal DNA with unprecedented precision. In 2010, Lo et al. demonstrated th...
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Analysis of cell-free fetal DNA in maternal plasma holds promise for the development of noninvasive prenatal genetic diagnostics. Previous studies have been restricted to detection of fetal trisomies, to specific paternally inherited mutations, or to genotyping common polymorphisms using material obtained invasively, for example, through chorionic villus sampling. Here, we combine genome sequen...
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ژورنال
عنوان ژورنال: Prenatal Diagnosis
سال: 2013
ISSN: 0197-3851
DOI: 10.1002/pd.4097