Social and medical need for whole genome high resolution NIPT.
Malgorzata Ilona SrebniakMaarten F C M KnapenLutgarde C P GovaertsMarike PolakMarieke JoostenKarin E M DiderichLaura J C M van ZutvenKrista A K E PrinsenSam RiedijkAttie T J I GoRobert-Jan H GaljaardLies H HoefslootDiane Van OpstalPublished in: Molecular genetics & genomic medicine (2019)
Since 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.