Noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: Test performance analysis and feasibility exploration.

Yuan RenJia ZhaoRuibing LiYifan XieShufang JiangHonghui ZhouHongtai LiuYanqin YouFang ChenWei WangYa GaoYuanguang MengYanping Lu

Published in: Prenatal diagnosis (2018)

Our method had a favorable performance for noninvasively detecting fetal FGFR3 mutations in maternal plasma, highlighting its promising value in developing a noninvasive prenatal test for de novo and paternally inherited disorders.

Keyphrases

pregnant women
copy number
gene expression
birth weight
dna methylation
body mass index
data analysis
preterm birth
circulating tumor