High-throughput sequencing based on copy number variation (CNV-seq) is commonly used to detect chromosomal abnormalities. This study identifies chromosomal abnormalities in aborted embryos/fetuses in early and middle pregnancy and explores the application value of CNV-seq in determining the causes of pregnancy termination. High-throughput sequencing was used to detect chromosome copy number variations (CNVs) in 116 aborted embryos in early and middle pregnancy. The detection data were compared with the Database of Genomic Variants (DGV), the Database of Chromosomal Imbalance and Phenotype in Humans using Ensemble Resources (DECIPHER), and the Online Mendelian Inheritance in Man (OMIM) database to determine the CNV type and the clinical significance. High-throughput sequencing results were successfully obtained in 109 out of 116 specimens, with a detection success rate of 93.97%. In brief, there were 64 cases with abnormal chromosome numbers and 23 cases with CNVs, in which 10 were pathogenic mutations and 13 were variants of uncertain significance. An abnormal chromosome number is the most important reason for embryo termination in early and middle pregnancy, followed by pathogenic chromosome CNVs. CNV-seq can quickly and accurately detect chromosome abnormalities and identify microdeletion and microduplication CNVs that cannot be detected by conventional chromosome analysis, which is convenient and efficient for genetic etiology diagnosis in miscarriage.
Cytogenet Genome Res

中文翻译：

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拷贝数变异测序在早孕中流产遗传分析中的应用

基于拷贝数变异（CNV-seq）的高通量测序通常用于检测染色体异常。这项研究鉴定了早孕和中期妊娠中流产的胚胎/胎儿的染色体异常，并探讨了CNV-seq在确定终止妊娠原因中的应用价值。高通量测序用于检测妊娠早期和中期的116个流产胚胎的染色体拷贝数变异（CNV）。将检测数据与基因组变异数据库（DGV），使用整合资源的人类染色体失衡和表型数据库（DECIPHER）以及人在线孟德尔遗传（OMIM）数据库进行比较，以确定CNV类型和临床意义。在116个样本中的109个中成功获得了高通量测序结果，检测成功率为93.97％。简而言之，染色体数目异常的64例和CNV的23例，其中10个是致病性突变，而13个是不确定意义的变异。染色体数目异常是妊娠早期和中期终止胚胎的最重要原因，其次是致病性染色体CNV。CNV-seq可以快速，准确地检测染色体异常，并识别常规染色体分析无法检测到的微缺失和微复制CNV，这对于流产的遗传病因学诊断是方便而有效的。染色体数目异常是妊娠早期和中期终止胚胎的最重要原因，其次是致病性染色体CNV。CNV-seq可以快速，准确地检测染色体异常，并识别常规染色体分析无法检测到的微缺失和微复制CNV，这对于流产的遗传病因学诊断是方便而有效的。染色体数目异常是妊娠早期和中期终止胚胎的最重要原因，其次是致病性染色体CNV。CNV-seq可以快速，准确地检测染色体异常，并识别常规染色体分析无法检测到的微缺失和微复制CNV，这对于流产的遗传病因学诊断是方便而有效的。
细胞遗传学基因组研究