Social and medical need for whole genome high resolution NIPT

ConclusionSince the frequency of syndromic disorders caused by microdeletions/microduplications is substantial and current routine NIPT and ultrasound investigations are not able to detect them, we suggest that a noninvasive test with resolution comparable to microarrays should be developed, which will also meet patient's needs.

Source: Molecular Genetics & Genomic Medicine - November 30, 2019 Category: Genetics & Stem Cells Authors: Malgorzata I. Srebniak, Maarten F. C. M. Knapen, Lutgarde C. P. Govaerts, Marike Polak, Marieke Joosten, Karin E. M. Diderich, Laura J. C. M. van Zutven, Krista A. K. E. Prinsen, Sam Riedijk, Attie T. J. I. Go, Robert ‐Jan H. Galjaard, Lies H Tags: ORIGINAL ARTICLE Source Type: research