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Non-invasive prenatal diagnosis: progress and potential

30 Apr 2014

Abstract excerpt

Non-invasive prenatal diagnosis and testing by analysis of cell-free DNA in the maternal circulation is a rapidly evolving field. Current clinical applications include fetal sex determination, fetal rhesus D determination, the diagnosis of some single gene disorders, and a highly accurate screening test for aneuploidies. In the future it is likely to be used for the diagnosis of an increasing range of monogenic...

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PMID: 24786470
DOI: 10.1136/archdischild-2013-304828

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