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Elles M. J. Boon and Brigitte H. W. Faas Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies Prenatal Diagnosis 33

Version of Record online: 17 MAY 2013 | DOI: 10.1002/pd.4111

What's already known about this topic?

  • Since the discovery of cell-free fetal DNA in maternal plasma, large progress has been made in the development of noninvasive prenatal tests.
  • The first applications in noninvasive prenatal diagnosis were single polymerase chain reaction-based.
  • Since 2008, a new era in the development of noninvasive aneuploidy testing was opened by the first successful application of massively parallel sequencing for this purpose.

What does this study add?

  • For fetal aneuploidy testing, whole genome massively parallel sequencing is still rather expensive and to reduce costs, targeted sequencing approaches are being developed.
  • This review highlights benefits and limitations of both whole genome and targeted approaches for noninvasive prenatal testing for fetal aneuploidy detection for now and the near future as a shift in the most cost effective approach is anticipated in the near future.

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