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Recent Advances in the Noninvasive Prenatal Testing for Chromosomal Abnormalities Using Maternal Plasma DNA

Abstract

No single invention in the past has created such a rapid and massive impact on clinical obstetric practice as the introduction of noninvasive prenatal screening (NIPS) for chromosomal abnormalities using cell-free DNA in maternal plasma. However, the technology of NIPS which has also been called noninvasive prenatal testing (NIPT) is rapidly evolving. Most clinicians may not be able to fully understand this new technology to enable good clinical practice. This review will be focused on issues that have important clinical implications. NIPT/S is only a screening test and all positive cases must be confirmed by invasive diagnostic techniques. Although NIPT/S is being expanded rapidly to cover other chromosomes and large chromosomal structural abnormalities, the detection rate is still uncertain, and the positive predictive value is expected to be lower. Pregnant women who are at risk of chromosomal abnormalities other than common trisomies should be offered a diagnostic test instead of NIPT/S. The use of NIPT/S as a primary Down syndrome screening test should not replace the 11–13 weeks scan.

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Correspondence to Kwong Wai Choy.

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Lau, T.K., Zhu, X., Kwok, Y.K.Y. et al. Recent Advances in the Noninvasive Prenatal Testing for Chromosomal Abnormalities Using Maternal Plasma DNA. J. Fetal Med. 7, 17–23 (2020). https://doi.org/10.1007/s40556-019-00229-3

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  • DOI: https://doi.org/10.1007/s40556-019-00229-3

Keywords

  • Noninvasive prenatal screening
  • NIPS
  • NIPT
  • Cell-free DNA
  • Maternal plasma
  • Aneuploidy