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Noninvasive Prenatal Diagnosis of a Case of Down Syndrome due to Robertsonian Translocation by Massively Parallel Sequencing of Maternal Plasma DNA

5 Mar 2011

Abstract excerpt

To the Editor: There has been much recent interest in the use of massively parallel sequencing of maternal plasma DNA for the detection of fetal Down syndrome, or trisomy 21 (1–4). DNA fragments in maternal plasma were sequenced at random to determine if an additional dose of chromosome 21 (chr21)1 sequences was contributed by the fetus. This approach has been shown to be highly robust in distinguishing trisomic...

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PMID: 21378172
DOI: 10.1373/clinchem.2011.161844

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