Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2016 May;89(5):523-30.
doi: 10.1111/cge.12598. Epub 2015 May 4.

Clinical implementation of NIPT - technical and biological challenges

P Brady  1 , N Brison  1 , K Van Den Bogaert  1 , T de Ravel  1 , H Peeters  1 , H Van Esch  1 , K Devriendt  1 , E Legius  1 , J R Vermeesch  1
Affiliations
Review

Clinical implementation of NIPT - technical and biological challenges

P Brady et al. Clin Genet. 2016 May.

Abstract

Non-invasive prenatal testing (NIPT) for fetal aneuploidy detection is increasingly being offered in the clinical setting. Whereas the majority of tests only report fetal trisomies 21, 18 and 13, genome-wide analyses have the potential to detect other fetal, as well as maternal, aneuploidies. In this review, we discuss the technical and clinical advantages and challenges associated with genome-wide cell-free fetal DNA profiling.

Keywords: cell-free DNA, (cfDNA); cell-free fetal DNA, (cffDNA); copy number variation, (CNV); genome sequencing; mosaicism; non-invasive prenatal testing, (NIPT); prenatal diagnosis.

PubMed Disclaimer

LinkOut - more resources