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Article

Next-generation sequencing and the impact on prenatal diagnosis

2 Jul 2018

Abstract excerpt

INTRODUCTION: The advent of affordable and rapid next-generation sequencing has been transformative for prenatal diagnosis. Sequencing of cell-free DNA in maternal plasma has enabled the development of not only a highly sensitive screening test for fetal aneuploidies, but now definitive noninvasive prenatal diagnosis for monogenic disorders at an early gestation. Sequencing of fetal exomes offers broad diagnostic...

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PMID: 29962246
DOI: 10.1080/14737159.2018.1493924

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