ArticleBMC medical genomics2024
Experience of copy number variation sequencing applied in spontaneous abortion.
Article in BMC medical genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- The genetic etiology of spontaneous abortion: insights from chromosomal microarray analysis and whole-exome sequencing.Scientific reports · 2026Article
- Anaysis of the association between chromosomal abnormalities in early missed abortion embryos and maternal age and AMH levels based on CNV-Seq.BMC pregnancy and childbirth · 2025Article
- The relationship between fetal tissue chromosomal karyotype and clinical characteristics in patients with spontaneous abortion: a retrospective study.BMC pregnancy and childbirth · 2025Article
- Association between spontaneous abortion and chromosomal abnormalities of products of conception from spontaneous and ART-conceived pregnancies.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2025Article
- The value of quantitative fluorescence polymerase chain reaction for the products of conception in the era of copy number variation sequencing.Frontiers in genetics · 2025Article
- Chromosome Abnormality Detection Rates of QF-PCR in Early Pregnancy Loss.Current health sciences journalArticle
Corrections and comments
- Erratum issued
Authors and funding
8 authors.
Funding
Abstract
purposeWe evaluated the value of copy number variation sequencing (CNV-seq) and quantitative fluorescence (QF)-PCR for analyzing chromosomal abnormalities (CA) in spontaneous abortion specimens.
methodsA total of 650 products of conception (POCs) were collected from spontaneous abortion between April 2018 and May 2020. CNV-seq and QF-PCR were performed to determine the characteristics and frequencies of copy number variants (CNVs) with clinical significance. The clinical features of the patients were recorded.
resultsClinically significant chromosomal abnormalities were identified in 355 (54.6%) POCs, of which 217 (33.4%) were autosomal trisomies, 42(6.5%) were chromosomal monosomies and 40 (6.2%) were pathogenic CNVs (pCNVs). Chromosomal trisomy occurs mainly on chromosomes 15, 16, 18, 21and 22. Monosomy X was not associated with the maternal or gestational age. The frequency of chromosomal abnormalities in miscarriages from women with a normal live birth history was 55.3%; it was 54.4% from women without a normal live birth history (P > 0.05). There were no significant differences among women without, with 1, and with ≥ 2 previous miscarriages regarding the rate of chromosomal abnormalities (P > 0.05); CNVs were less frequently detected in women with advanced maternal age than in women aged ≤ 29 and 30-34 years (P < 0.05).
conclusionChromosomal abnormalities are the most common cause of pregnancy loss, and maternal and gestational ages are strongly associated with fetal autosomal trisomy aberrations. Embryo chromosomal examination is recommended regardless of the gestational age, modes of conception or previous abortion status.
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