Evidence map›Paper›PMID 41863018›Full record

ArticleHuman genomics2026

Genetic diagnosis in fetal hydronephrosis: assessment using chromosomal microarray analysis and whole-genome sequencing.

Jing Wang, Jingyu Zhao, Wei Wang, Xinmei Zhu, Bin Zhang, Bin Yu

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Article in Human genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Jing Wang *Department of Medical Genetics, Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, 16th Ding Xiang Road, Changzhou, 213023, Jiangsu, China.
Jingyu Zhao *Clin Lab, BGI Genomics, Nanjing, 210019, Jiangsu, China.
Wei WangDepartment of Medical Genetics, Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, 16th Ding Xiang Road, Changzhou, 213023, Jiangsu, China.
Xinmei ZhuDepartment of Medical Genetics, Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, 16th Ding Xiang Road, Changzhou, 213023, Jiangsu, China.
Bin ZhangDepartment of Medical Genetics, Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, 16th Ding Xiang Road, Changzhou, 213023, Jiangsu, China. binzhang@njmu.edu.cn.
Bin YuDepartment of Medical Genetics, Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, 16th Ding Xiang Road, Changzhou, 213023, Jiangsu, China. binyu@njmu.edu.cn.

Funding

Major Science and Technology Project of Changzhou Municipal Health Commission ZD202418Medical Technology Research Project of Changzhou Maternal and Child Health Care Hospital YJ202413Medical Technology Research Project of Changzhou Maternal and Child Health Care Hospital YJ202512Nanjing Medical University Changzhou Medical Center Project CMCC202421the Top Talent of Changzhou "The 14th Five‑Year Plan" High‑Level Health Talents Training Project 2022CZBJ089
6 · The paper itself

Abstract

backgroundAntenatal hydronephrosis (AHN) is a common urological abnormality identified during prenatal ultrasound examination, with heterogeneous underlying causes. This study aimed to investigate the genetic etiologies of AHN using chromosomal microarray analysis (CMA) and whole-genome sequencing (WGS), and to identify the relationship between changes in AHN severity and genetic abnormalities.

methodsFetuses with AHN underwent CMA, followed by retrospective WGS. Detection rates of chromosomal abnormalities and monogenic variants were compared among different AHN types and between fetuses with downgraded versus persistent or upgraded hydronephrosis. A variant of uncertain significance (VUS) affecting a splice site was functionally validated using a minigene-splicing assay, leading to reclassification.

resultsChromosomal abnormalities were detected in five of 54 fetuses (9.26%) using CMA, while WGS identified monogenic variants and chromosomal abnormalities in 10 of 54 (18.52%). The detection rate was significantly higher in AHN with extrarenal system malformations than in isolated AHN or AHN with renal tract malformations (p < 0.05). Fetuses with downgraded AHN had a lower detection rate (6.25%) than those with persistent or upgraded hydronephrosis (23.68%, p = 0.249). A novel GREB1L splice-site variant (c.2557G > A) caused aberrant splicing and was reclassified as likely pathogenic.

conclusionsWGS demonstrates higher diagnostic efficiency over CMA for AHN. Persistent or worsening AHN warrants timely genetic testing, and functional assays are critical for resolving VUS in prenatal diagnosis.

Indexed as

HydronephrosisChromosome AberrationsFemaleFetusGenetic TestingHumansMicroarray AnalysisOligonucleotide Array Sequence AnalysisPregnancyPrenatal DiagnosisWhole Genome SequencingAntenatal hydronephrosis (AHN)Chromosomal microarray analysis (CMA)Copy number variants (CNVs)Monogenic variantsWhole-genome sequencing (WGS)

Identifiers

PMID41863018
PMCPMC13126830

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