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Noninvasive prenatal diagnosis for single gene disorders

15 Feb 2017

Abstract excerpt

PURPOSE OF REVIEW: Noninvasive prenatal diagnosis for single gene disorders is coming to fruition in its clinical utility. The presence of cell-free DNA in maternal plasma has been recognized for many years, and a number of applications have developed from this. Noninvasive prenatal diagnosis for single gene disorders has lagged behind due to complexities of technology development, lack of investment and the need...

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PMID: 28134670
DOI: 10.1097/gco.0000000000000347

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