Clinical implementation of NIPT – technical and biological challenges. Issue 5 (4th May 2015)

• Record Type: Journal Article
• Authors: Brady, P.; Brison, N.; Van Den Bogaert, K.; de Ravel, T.; Peeters, H.; Van Esch, H.; Devriendt, K.; Legius, E.; Vermeesch, J.R.
• Is Part Of: Clinical genetics. Volume 89:Issue 5(2016)
• Page Start: 523
• Page End: 530
• Publication Date: 2015-05-04
• Subjects: cell‐free DNA, (cfDNA) -- cell‐free fetal DNA, (cffDNA) -- copy number variation, (CNV) -- genome sequencing -- mosaicism -- non‐invasive prenatal testing, (NIPT) -- prenatal diagnosis; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12598
• Languages: English
• ISSNs: 0009-9163

Abstract

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. Abstract :