Author

Xian-Zhen Cao

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Open access Sep 2026

Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women

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...

Liang Hu, Xian-Zhen Cao, Shu-Xian Zeng et al. · Annals medicus · 0 citations

Oct 2026

Clinical Performance Evaluation of Size-Selective Placental Cell-Free DNA Enrichment for Non-Invasive Prenatal Testing of Fetal Copy Number Variants.

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

Sep 2026

Comparative Screening Performance of Noninvasive Prenatal Testing in Assisted Reproduction and Spontaneous Pregnancies.

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...

Liang Hu, Xian-Zhen Cao, Shu-Xian Zeng et al. · Prenatal Diagnosis · 0 citations