Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, China.
Liuzhou Institute of Reproduction and Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, China.
Cytogenet Genome Res. 2020;160(11-12):634-642. doi: 10.1159/000512801. Epub 2021 Mar 23.
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.
基于拷贝数变异（CNV-seq）的高通量测序常用于检测染色体异常。本研究旨在识别早中期流产胚胎/胎儿的染色体异常，并探讨 CNV-seq 在确定妊娠终止原因中的应用价值。本研究采用高通量测序技术对 116 例早中期流产胚胎进行染色体拷贝数变异（CNVs）检测。将检测数据与基因组变异数据库（DGV）、使用综合资源的人类染色体不平衡和表型数据库（DECIPHER）和在线孟德尔遗传数据库（OMIM）进行比较，以确定 CNV 类型和临床意义。116 个标本中有 109 个标本成功获得高通量测序结果，检测成功率为 93.97%。简而言之，有 64 例染色体数目异常，23 例 CNVs，其中 10 例为致病性突变，13 例为意义不明的变异。异常染色体数目是早中期胚胎终止的最重要原因，其次是致病性染色体 CNVs。CNV-seq 可快速准确地检测染色体异常，并可识别常规染色体分析无法检测到的微缺失和微重复 CNVs，为流产的遗传病因诊断提供了便捷高效的方法。
