Evidence map›Paper›PMID 42271033›Full record

ArticleArchives of gynecology and obstetrics2026

Identification of chromosomal abnormalities in miscarriages using single-nucleotide polymorphism arrays.

Wantong Zhao, Haiwei Wang, Bin Liang, Hailong Huang, Na Lin, Liangpu Xu

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Article in Archives of gynecology and obstetrics, 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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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

6 authors.

Wantong Zhao *Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Fujian Medical University, Fuzhou, 350001, Fujian, China.
Haiwei Wang *Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Fujian Medical University, Fuzhou, 350001, Fujian, China. hwwang@sibs.ac.cn.
Bin Liang *Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Fujian Medical University, Fuzhou, 350001, Fujian, China.
Hailong HuangMedical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Fujian Medical University, Fuzhou, 350001, Fujian, China.
Na LinMedical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Fujian Medical University, Fuzhou, 350001, Fujian, China. linna1088@fjmu.edu.cn.
Liangpu XuMedical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Fujian Medical University, Fuzhou, 350001, Fujian, China. xiliangpu@fjmu.edu.cn.

Funding

Joint Funds for the innovation of science and Technology, Fujian province 2023Y9360
6 · The paper itself

Abstract

purposeChromosome abnormalities are a known cause of miscarriage. A detailed chromosomal study in miscarriages is delineated using high-throughput technologies.

methods564 miscarriages were collected, and the chromosomal abnormalities, including triploidy, trisomy, monosomy, uniparental disomy, and chromosomal deletions/duplications in miscarriages, were detected by high-throughput single-nucleotide polymorphism (SNP) array.

resultsThere were 336 (59.6%) miscarriages with chromosomal abnormalities, including 325 (57.6%) miscarriages with pathogenic variants and 11 (2%) miscarriages with variations of unknown significance (VOUS). The remaining 228 (40.4%) miscarriages had no clinically relevant chromosomal variants. Among the 325 miscarriages with pathogenic variants, 23 miscarriages had triploidy and two miscarriages showed genome-wide uniparental disomy. Trisomy was found in 225 miscarriages and involved nearly every chromosome. Monosomy X was found in 39 miscarriages. Also, 32 miscarriages were with partial chromosomal deletions/duplications, particularly in 8p23 and Xp22 regions.

conclusionsOur results confirmed that trisomy and monosomy X are potentially the most common causes of miscarriage. We also showed that chromosomal pathogenic deletions/duplications are involved with miscarriage. However, still nearly 40% of miscarriages had no chromosomal variants detected by SNP array. This may be attributed to a single gene mutation that requires high-throughput sequencing.

Indexed as

Abortion, SpontaneousChromosome AberrationsChromosome DisordersPolymorphism, Single NucleotideAdultFemaleHumansPregnancyTrisomyUniparental DisomyChromosomal abnormalityMiscarriagePathogenic copy number variationSNP arrayTrisomy

Identifiers

PMID42271033
PMCPMC13478020

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