Deletions and duplications within the 15q11q13 chromosomal region are associated with Prader-Willi syndrome, Angelman syndrome, and 15q11q13 duplication syndrome. However, prenatal ultrasound findings were unremarkable in the majority of affected fetuses. The aim of this study was to evaluate the efficacy of non-in...
Di-Yu Chen, Liang Hu, Hong-Yan Niu et al.· Frontiers in Genetics· 0 citations
Abstract Objectives Knowledge of copy number variants (CNVs) is relevant to maternal and fetal health and can be obtained from noninvasive prenatal screening (NIPS) of pregnancy. However, genome-wide analysis of maternal CNVs using NIPS data has not been conducted in large populations. Methods For CNV analysis, the hum...
OBJECTIVE
To evaluate the performance of low-depth non-invasive prenatal testing (NIPT) using cell-free DNA enrichment for detecting fetal copy number variations (CNVs) and to assess its clinical utility.
METHODS
A retrospective analysis was conducted on 86,012 pregnant women who underwent NIPT with size-selective ce...
Xiao-Yi Liu, Xian-Zhen Cao, Liang Hu et al.· Prenatal Diagnosis· 0 citations
OBJECTIVE
To compare noninvasive prenatal testing (NIPT) performance between pregnancies conceived with assisted reproductive technology (ART) and spontaneously conceived pregnancies, and explore NIPT application characteristics in the ART population.
METHOD
A single-center retrospective study enrolled 193,376 pregna...
