Evidence map›Paper›PMID 41267400›Full record

ArticleHGG advances2026

Clinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis.

Ying Hao, Qian Geng, Xingping Li, Jingxin Yang, Yang Liu, Qingfa Huang, Yong Xu, Peining Li, Jiansheng Xie, Weiqing Wu and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in HGG advances, 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

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

12 authors.

Ying HaoMedical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, China.
Qian GengMedical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, China.
Xingping LiMedical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, China.
Jingxin YangMedical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, China.
Yang LiuMedical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, China.
Qingfa HuangMedical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, China.
Yong XuMedical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, China.
Peining LiDepartment of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Jiansheng XieMedical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, China; Reproductive Medicine and Prenatal Diagnosis Center, Division of Prenatal Diagnosis, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.
Weiqing WuMedical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, China.
Bo WuMedical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, China; Shenzhen Key Laboratory of Maternal and Child Health and Diseases, Shenzhen, China. Electronic address: wubo@szmch.net.cn.
Wenlan LiuMedical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, China; Shenzhen Key Laboratory of Maternal and Child Health and Diseases, Shenzhen, China. Electronic address: lwl@szmch.net.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Chromosomal microarray analysis (CMA) detects pathogenic copy-number variants (pCNVs) and regions of homozygosity (ROHs) in prenatal genetic analysis. This study evaluates the clinical significance of ROH detection in prenatal settings. We reviewed 178 fetuses with ROH detected by CMA among 20,546 fetuses from 2015 to 2023. Clinical and laboratory results, including ultrasound anomalies, cell-free DNA (cfDNA) screening, karyotyping, exome sequencing (ES), and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA), were analyzed. These 178 fetuses with ROH accounted for 0.87% of prenatal cases. Among them, 24.2% had positive cfDNA screening results, and 52.8% underwent follow-up ES, trio CMA, and MS-MLPA. Follow-up studies detected pathogenic homozygous variants within ROH in two fetuses and uniparental disomy (UPD)-related diseases in five fetuses. Our results and findings from the other five large prenatal case series from literature indicated that ROH detection in prenatal CMA has a baseline positive predictive value of 2.7% for autosomal-recessive disorders, 9.6% for UPD-related diseases, and 0.04% overall additive diagnostic yield. These findings support the use of ES and MS-MLPA for follow-up testing and provide guidance for genetic counseling in fetuses with ROH.

Indexed as

HomozygoteMicroarray AnalysisPrenatal DiagnosisAdultClinical RelevanceDNA Copy Number VariationsExome SequencingFemaleGenetic TestingHumansPregnancyUniparental Disomychromosome microarray analysiscopy-number variantexome sequencingprenatal diagnosisregions of homozygosityuniparental disomy

Identifiers

PMID41267400
PMCPMC12903083

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.