Detection of chromosomal abnormalities in spontaneous miscarriage by low‑coverage next‑generation sequencing

Autor: Mei‑Juan Xie, Shou‑Fang Qu, Xue-Xi Yang, Long Wu, Zhi‑Kun Liang, Fen‑Xia Li, Dan He, Fang Yang, Ying‑Song Wu
Rok vydání: 2020
Předmět:
Adult
0301 basic medicine
congenital
hereditary
and neonatal diseases and abnormalities
Cancer Research
Adolescent
DNA Copy Number Variations
Chromosome Disorders
Single-nucleotide polymorphism
Computational biology
Biology
Biochemistry
DNA sequencing
Young Adult
03 medical and health sciences
0302 clinical medicine
Pregnancy
Genetics
Humans
Clinical significance
Prospective Studies
Copy-number variation
Molecular Biology
Retrospective Studies
Chromosome Aberrations
spontaneous miscarriage
Comparative Genomic Hybridization
semiconductor sequencing
High-Throughput Nucleotide Sequencing
Articles
Ion semiconductor sequencing
Middle Aged
Abortion
Spontaneous
chromosomal abnormalities
030104 developmental biology
Oncology
Case-Control Studies
030220 oncology & carcinogenesis
Molecular Medicine
Microsatellite
Female
DNA microarray
copy number variants
Comparative genomic hybridization
Zdroj: Molecular Medicine Reports
ISSN: 1791-3004
1791-2997
DOI: 10.3892/mmr.2020.11208
Popis: Chromosomal abnormalities (CAs) can cause spontaneous miscarriage and increase the incidence of subsequent pregnancy loss and other complications. Presently, CAs are detected mainly by array comparative genomic hybridization (CGH) and single nucleotide polymorphism microarrays. The present study developed a low-coverage next-generation sequencing method to detect CAs in spontaneous miscarriage and assess its clinical performance. In total, 1,401 patients who had experienced an abortion were enrolled in the present study and divided into two groups. In group I, 437 samples that had been previously validated by array CGH were used to establish a method to detect CAs using a semiconductor sequencing platform. In group II, 964 samples, which were not verified, were assessed using established methods with respect to clinical significance. Copy number variant (CNV)-positive and euploidy samples were verified by array CGH and short tandem repeat profiling, respectively, based on quantitative fluorescent PCR. The low-coverage sequencing method detected CNVs >1 Mb in length and a total of 3.5 million unique reads. Similar results to array CGH were obtained in group I, except for six CNVs 1 Mb, with advantages of requiring less input DNA and lower cost.
Databáze: OpenAIRE
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