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Judith M. E. Walsh and James D. Goldberg Fetal aneuploidy detection by maternal plasma DNA sequencing: a technology assessment Prenatal Diagnosis 33

Version of Record online: 17 MAY 2013 | DOI: 10.1002/pd.4109

What's already known about this topic?

  • Noninvasive prenatal testing by analysis of cell-free DNA has the potential to accurately diagnose common fetal aneuploidies, although how best to use this test in the context of other available prenatal tests has not yet been determined.

What does this study add?

  • This study critically assesses the published literature on the use of maternal plasma DNA sequencing for fetal aneuploidy detection and compares it with the established alternatives. Finally, it provides guidelines for evidence-based use of maternal plasma DNA sequencing for the detection of fetal aneuploidy

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