Evidence map›Paper›PMID 40684108›Full record

ArticleBMC pregnancy and childbirth2025

Prenatal diagnosis and genetic assessment of fetuses with single umbilical artery using chromosomal microarray analysis: a seven-year single-center retrospective study.

Jianlong Zhuang, Nan Huang, Yu'e Chen, Jialing Wu, Xiaofang Ye, Chunnuan Chen

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Article in BMC pregnancy and childbirth, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Jianlong ZhuangPrenatal Diagnosis Center, Women's and Children's Affiliated Hospital of Huaqiao University, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian Province, 362000, China. 415913261@qq.com.
Nan HuangThe teaching and research office of clinical laboratory medicine, Quanzhou Medical College, Quanzhou, 362000, China.
Yu'e ChenDepartment of Ultrasound, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, China.
Jialing WuPrenatal Diagnosis Center, Women's and Children's Affiliated Hospital of Huaqiao University, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian Province, 362000, China.
Xiaofang YeDepartment of Neurology, Rare Disease Medical Center, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian Province, 362000, China.
Chunnuan ChenDepartment of Neurology, Rare Disease Medical Center, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian Province, 362000, China. chenchunnuan1983@aliyun.com.

Funding

Huaqiao University Joint of Hospital and University Innovation Project 2023YX001Natural Science Foundation of Fujian Province 2023J01104Quanzhou Science and Technology Program of China 2023NS068Science and Technology Innovation Joint Fund project of Fujian Province 2023Y9255Science and Technology Innovation Joint Fund project of Fujian Province 2024Y9459
6 · The paper itself

Abstract

backgroundThe inherited causes behind fetuses with a single umbilical artery (SUA) are still poorly understood, largely because published studies are scarce. In the present research, efforts were made to uncover the genetic factors at play and to assess how SUA influences pregnancy outcome.

methodsA retrospective review was performed on 5,014 pregnant individuals who underwent prenatal diagnostic testing between September 2017 and April 2023. Of these, 123 fetuses were found to have SUA. Amniocentesis was carried out in all affected cases, with samples analyzed via conventional karyotyping and chromosomal microarray analysis (CMA) to detect any chromosomal abnormalities.

resultsIn the present study, four cases of chromosome aneuploid and two cases of chromosomal structural abnormalities were identified through karyotype analysis, with the chromosomal aberration detection rate being 4.88% (6/123). CMA confirmed every abnormality detected by conventional karyotyping and additionally identified 11 pathogenic copy number variants that had been missed. These novel findings included clinically significant conditions such as Wolf-Hirschhorn syndrome, Xq28 duplication syndrome, 16p13.3 duplication syndrome, 16p11.2 deletion syndrome, and 22q11.21 deletion syndrome. Overall, CMA provided an incremental diagnostic yield of 8.94% (11/123) beyond what karyotyping alone achieved (P = 0.001).

conclusionCMA markedly improved the identification of clinically relevant genetic alterations in fetuses presenting with a single umbilical artery, especially when the anomaly occurred in isolation. These findings highlight the value of CMA for uncovering the genetic contributors to SUA and advance the characterization of genotype-phenotype relationships in these cases.

Indexed as

Chromosome DisordersMicroarray AnalysisPrenatal DiagnosisSingle Umbilical ArteryAdultAmniocentesisChromosome AberrationsFemaleGenetic TestingHumansKaryotypingPregnancyRetrospective StudiesChromosomal microarray analysisCopy number variantsKaryotype analysisPrenatal diagnosisSingle umbilical artery

Identifiers

PMID40684108
PMCPMC12275279

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