标题：拷贝数变异测序在稽留流产遗传学检测中的应用

      作者：覃颖 1，毛锦江 1，钟文富 2    贵港市人民医院产科 1、检验科 2，广西 贵港 537100

      卷次： 2023年34卷8期

      【摘要】 目的 探讨拷贝数变异测序(CNV-seq)技术在研究早期稽留流产原因中的应用价值。方法 选取2020年1月至2021年12月在贵港市人民医院就诊的220例稽留流产患者，对其绒毛/胎儿组织进行拷贝数变异测序(CNV-Seq)，分析稽留流产与染色体异常的相关性。结果 220例稽留流产标本中，成功检测 215例，成功率为97.73%。结果检出染色体异常 140例(65.28%)，染色体正常 75 例(34.72%)。染色体异常中，数目异常型 113例(80.71%)，最为常见，其中三体型 82例(58.57%)，X单体型 13例 (9.29%)，三倍体 18例 (12.86%)。嵌合体 13例(6.05%)，染色体片段缺失/重复14例(6.51%)。孕妇年龄≥35岁组发生染色体异常率为72.58%，略高于孕妇年龄<35岁组的62.09%，但差异无统计学意义(P>0.05)。结论 CNV-seq对流产物的遗传学诊断具有明确的应用价值，染色体数目异常是导致早期流产最常见的原因之一，对再生育指导具有重要意义。
      【关键词】 稽留流产；绒毛；核型；拷贝数变异测序；下一代测序
      【中图分类号】 R714.21 【文献标识码】 A 【文章编号】 1003—6350（2023）08—1148—04

Application of copy number variation sequencing in genetic detection of missed abortion.
QIN Ying 1, MAOJing-jiang 1, ZHONG Wen-fu 2. Department of Obstetrics 1, Department of Clinical Laboratory 2, Guigang People's Hospital,Guigang 537100, Guangxi, CHINA
【Abstract】 Objective To explore the application value of copy number variation sequencing (CNV-seq)technology in studying the causes of early missed abortion. Methods A total of 220 patients of missed abortion ad-mitted to Guigang People's Hospital from January 2020 to December 2021 were selected. CNV-Seq was performed onthe villus/fetal tissue of the patients to analyze the correlation between missed abortion and chromosomal abnormali-ties. Results Among the 220 patients, 215 were detected successfully, with a success detection rate of 97.73%, including140 cases (65.28%) of chromosomal abnormalities and 75 cases (34.72%) of normal chromosomes. Among the 140 casesof chromosomal abnormalities, 113 (80.71%) were of numeral abnormalities of chromosome, including 82 (58.57%) of tri-somy, 13 (9.29%) of X haplotype, and 18 (12.86%) of triploidy. There were 13 cases (6.05%) of mosaicism and 14 cases(6.51%) of chromosomal segment deletion/duplication. The chromosomal abnormality rate of pregnant women aged≥35 years was 72.58%, slightly higher than 62.09% in pregnant women<35 years old (P>0.05). Conclusion CNV-seq is ofgreat value in the genetic diagnosis of aborted products. Chromosome number abnormality is one of the most commoncauses of early abortion, which is of great significance for the guidance of reproduction.
      【Key words】 Missed abortion; Villus; Karyotype; Copy number variation sequencing; Next generation se-quencing