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Updated: Dec 25, 2025
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Benefits and limitations of noninvasive prenatal aneuploidy screening
1In the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine at the University of California San Francisco-Fresno Branch, in Fresno, Calif., David Eric Abel is an attending perinatologist and Amy Alagh is a resident. The authors have disclosed no potential conflicts of interest, financial or otherwise.
Abstract:
The introduction of noninvasive prenatal screening (NIPS) using cell-free DNA (cfDNA) is the newest option for aneuploidy screening during pregnancy. Compared with other aneuploidy screening options, NIPS offers a higher detection rate for trisomy 21 with a low false-positive rate. However, pretest and post-test patient counseling is essential and should include a discussion of the benefits and limitations, the screening rather than diagnostic nature of the test, and the association of a test failure with an increased risk of aneuploidy. Refer patients for genetic counseling when appropriate, particularly if test failure occurs due to a low fetal fraction or if maternal mosaicism or malignancy is suspected.
