Submicroscopic chromosomal imbalances contribute to early abortion

Li, Haibo; Liu, Minjuan; Xie, Min; Zhang, Qin; Xiang, Jingjing; Duan, Chengying; Ding, Yang; Liu, Yinghua; Mao, Jun; Wang, Ting; Li, Hong

doi:10.1186/s13039-018-0386-0

Cited by 7 publications

(5 citation statements)

References 34 publications

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“…Several studies have found that numerical chromosomal abnormalities on chromosomes 1 and 19 were associated with some diseases and miscarriage. [46][47][48] The incidence of chromosomal abnormalities and numerical chromosomal abnormalities increased with an increasing age of the pregnant women, with the lowest incidence being in individuals < 30 years old. This result is in line with a previous study.…”

Section: Comparison Of Cnv Results Of Fetuses According To Different Age Of Pregnant Women and Gestational Weekmentioning

confidence: 99%

Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next‐generation sequencing analysis

Zhang

Huang

et al. 2021

The Journal of Gene Medicine

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Background: The present study aimed to explore the etiological relationship between miscarriage and stillbirth and copy number variations (CNVs), as well as provide useful genetic guidance for high-risk pregnancy.Methods: In total, 659 fetal samples were recruited and subjected to DNA extraction and CNV sequencing (CNV-seq), relevant medical records were collected.Results: There were 322 cases (48.86%) with chromosomal abnormalities, including 230 with numerical abnormalities and 92 with structural abnormalities. Chromosomal monosomy variations mainly occurred on sex chromosomes and trisomy variations mainly occurred on chromosomes 16, 22, 21, 18, 13 and 15. In total, 41 pathogenic CNVs (23 microdeletions and 18 microduplications) were detected in 27 fetal tissues.The rates of numerical chromosomal abnormalities were 29.30% (109/372), 32.39% (57/176) and 57.66% (64/111) in < 30-year-old, 30-34-year-old and ≥ 35-year-old age pregnant women, respectively, and increased with an increasing age (p < 0.001).There was statistically significant difference (χ 2 = 7.595, p = 0.022) in the rates of structural chromosomal abnormalities in these groups (13.71%, 18.75% and 7.21%, respectively). The rates of numerical chromosomal abnormalities were 45.44% (219/482), 7.80% (11/141) and 0% (0/36) in the ≤ 13 gestational weeks, 14-27 weeks and ≥ 28 weeks groups, respectively, and decreased with respect to the increasing gestational age of the fetuses (p < 0.001). Conclusions:The present study has obtained useful and accurate genetic etiology information that will provide useful genetic guidance for high-risk pregnancies.

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Section: Comparison Of Cnv Results Of Fetuses According To Different Age Of Pregnant Women and Gestational Weekmentioning

confidence: 99%

Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next‐generation sequencing analysis

Zhang

Huang

et al. 2021

The Journal of Gene Medicine

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“…We also found that no abnormal chromosome number was detected in Chr1, Chr17, and Chr19, which might result from the insufficient sample size. The incidence of miscarriages caused by T1, T17, and T19 was relatively low, although several studies found numerical abnormalities of Chr1 and Chr19 in abortion tissues [ 25 , 26 ]. There were 21 mosaicisms detected in this study, and three were low-level mosaicism: 47,XNN[15%]/46,XN[85%]; 45,X[10%]/46,XN[90%]; 47,XN, + 4[10%]/46,XN[90%].…”

Section: Discussionmentioning

confidence: 99%

Identification of chromosomal abnormalities in miscarriages by CNV-Seq

Shao,

Yang,

Cheng

et al. 2024

Mol Cytogenet

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Objective The primary object of this study is to analyze chromosomal abnormalities in miscarriages detected by copy number variants sequencing (CNV-Seq), establish potential pathways or genes related to miscarriages, and provide guidance for birth health in the following pregnancies. Methods This study enrolled 580 miscarriage cases with paired clinical information and chromosomal detection results analyzed by CNV-Seq. Further bioinformatic analyses were performed on validated pathogenic CNVs (pCNVs). Results Of 580 miscarriage cases, three were excluded as maternal cell contamination, 357 cases showed abnormal chromosomal results, and the remaining 220 were normal, with a positive detection rate of 61.87% (357/577). In the 357 miscarriage cases, 470 variants were discovered, of which 65.32% (307/470) were pathogenic. Among all variants detected, 251 were numerical chromosomal abnormalities, and 219 were structural abnormalities. With advanced maternal age, the proportion of numerical abnormalities increased, but the proportion of structural abnormalities decreased. Kyoto Encyclopedia of Genes and Genomes pathway and gene ontology analysis revealed that eleven pathways and 636 biological processes were enriched in pCNVs region genes. Protein–protein interaction analysis of 226 dosage-sensitive genes showed that TP53, CTNNB1, UBE3A, EP300, SOX2, ATM, and MECP2 might be significant in the development of miscarriages. Conclusion Our study provides evidence that chromosomal abnormalities contribute to miscarriages, and emphasizes the significance of microdeletions or duplications in causing miscarriages apart from numerical abnormalities. Essential genes found in pCNVs regions may account for miscarriages which need further validation.

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“…Previous studies revealed that submicroscopic CNVs could be one of genetic causes in pregnancy losses [14–19]. In this study, 23 CNVs were identified in 326 POC samples using SNP-array, of which 11 CNVs were interpreted as pathogenic for these CNVs were cytogenetically visible alterations (>3-5 Mb) without well-established cytogenetic heteromorphisms, and 7 CNVs were classified as VOUS because whether these CNVs cause spontaneous abortions is still an open question (Table 1).…”

Section: Discussionmentioning

confidence: 99%

Genetic analysis of products of conception using a HLPA/SNP-array strategy

Mao

Wang

Li³

et al. 2019

Mol Cytogenet

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BackgroundFetal chromosomal abnormalities was the most frequent cause of miscarriage, and the traditional testing method G-banded karyotyping has limitations. Then high-throughput ligation-dependent probe amplification (HLPA) and single nucleotide polymorphism array (SNP-array) were introduced for genetic analysis on products of conception (POC).MethodsHLPA and SNP-array analysis were combined. POC samples were initially tested using HLPA, followed by SNP-array analysis on samples that were found to be normal by HLPA.ResultsOf the 326 POC samples tested, the overall abnormality rate was 54.6% (178/326), including 44.8% (146/326) chromosomal abnormalities identified by HLPA and 9.8% (32/326) additional chromosomal abnormalities further detected by SNP-array.ConclusionsThe combination of HLPA and SNP-array analysis is an efficient and cost-effective strategy for genetic analysis of POC.

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Submicroscopic chromosomal imbalances contribute to early abortion

Cited by 7 publications

References 34 publications

Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next‐generation sequencing analysis

Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next‐generation sequencing analysis

Identification of chromosomal abnormalities in miscarriages by CNV-Seq

Genetic analysis of products of conception using a HLPA/SNP-array strategy

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