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

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...

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Bibliographic Details
Published in:The journal of gene medicine 2021-12, Vol.23 (12), p.e3383-n/a
Main Authors: Zhang, Xia, Huang, Qingyan, Yu, Zhikang, Wu, Heming
Format: Article
Language:English
Subjects:
Abortion, Spontaneous - genetics
Adult
Chromosome aberrations
Chromosomes
Copy number
copy number variation sequencing
DNA Copy Number Variations
DNA sequencing
Etiology
Female
Fetuses
Gene therapy
Gestational age
High-Throughput Nucleotide Sequencing
Humans
Medical records
microdeletion
microduplication
Miscarriage
miscarriage and stillbirth fetus
Monosomy
Pregnancy
Prenatal Diagnosis - methods
Sequence analysis
Sex chromosomes
Statistical analysis
Stillbirth
Stillbirth - epidemiology
Stillbirth - genetics
Trisomy
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Summary: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
ISSN:1099-498X
1521-2254
DOI:10.1002/jgm.3383