Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations.
Nicola Jane FlowersTrent BurgessOlivia GiouzepposGrace ShiClare Jane LoveClare Elizabeth HuntKatrina Louise ScarffAlison Dalton ArchibaldMark Domenic PertilePublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
We demonstrate that gw-NIPS is a potential option for a majority of reciprocal translocation carriers. Further confirmation of this methodology could lead to adoption of this noninvasive alternative.