Author

Jie Wang

2 papers indexed here

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Aug 2026

Rare Autosomal Trisomies Detected by Noninvasive Prenatal Testing: Performance, Outcomes, and Exploratory Analysis of the Theoretical Mosaicism Ratio.

OBJECTIVE To characterize rare autosomal trisomies (RATs) detected by genome-wide noninvasive prenatal testing (GW-NIPT), evaluate their clinical significance, and explore whether sequencing-derived parameters are associated with adverse pregnancy outcomes. METHODS This single-center retrospective cohort study includ...

YaXian Liu, Jie Wang, G. Wang et al. · Prenatal Diagnosis · 0 citations

Review Open access Jan 2026

A Novel Pathogenic Variant in PAX2‐Related Renal Coloboma Syndrome Identified by Prenatal Diagnosis: A Case Report and Literature Review

The present case identified a previously unreported pathogenic variant in the PAX2 gene, thereby expanding the mutational spectrum of PAX2‐related RCS, and underscores the phenotypic heterogeneity of this disorder, even among members of the same family.

G. Wang, Jie Wang, Lichun Zhang et al. · Case Reports in Obstetrics a... · 0 citations