Hum Genet. 2019 Sep 25. doi: 10.1007/s00439-019-02061-1. [Epub ahead of print]
Noninvasive prenatal testing: from aneuploidy to single genes.
Guseh SH1.
Author information
- 1
- Division of Maternal-Fetal Medicine, Obstetrics and Gynecology, Harvard Medical School, Brigham and Women's Hospital, 75 Francis St, Boston, MA, USA. sguseh@bwh.harvard.edu.
Abstract
Noninvasive prenatal testing has undergone rapid advances in the last few years. Although researchers have long known about circulating pregnancy-based cell-free fragments of DNA in maternal plasma, it was the introduction of massively parallel sequencing that allowed noninvasive prenatal testing to become a widely used clinical test. This review will begin with an in-depth analysis of the use of noninvasive prenatal testing for aneuploidy, including common causes for inaccurate and/or discordant results. It will also review the ongoing expansion of noninvasive prenatal testing to include copy number variants and select single-gene disorders. Finally, integrated throughout the review is a comparison of noninvasive prenatal testing to more traditional screening methods along with some medical and ethical implications of the widespread use of this new technology.
- PMID:
- 31555907
- DOI:
- 10.1007/s00439-019-02061-1
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