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Noninvasive Prenatal Molecular Karyotyping from Maternal Plasma

17 Apr 2013

Abstract excerpt

Fetal DNA is present in the plasma of pregnant women. Massively parallel sequencing of maternal plasma DNA has been used to detect fetal trisomies 21, 18, 13 and selected sex chromosomal aneuploidies noninvasively. Case reports describing the detection of fetal microdeletions from maternal plasma using massively parallel sequencing have been reported. However, these previous reports were either...

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PMID: 23613765
DOI: 10.1371/journal.pone.0060968

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