Prenatal exome sequencing in fetuses with callosal anomalies.

Ting-Ying LeiQin SheFang FuLi ZhenRu LiQiu-Xia YuDan WangYing-Si LiKen ChengHang ZhouXin YangMin PanDong-Zhi LiCan Liao

Published in: Prenatal diagnosis (2022)

Our study used ES prenatally for CA and showed that ES can be used diagnostically to define the molecular defects that underlie unexplained CA. Most subjects with isolated CA with negative results for genetic causes will have a favorable prognosis in early childhood.

Keyphrases

protein kinase
copy number
pregnant women
genome wide
single cell
single molecule
gestational age