CNV-seq技术对1953例自然流产物的染色体数目和拷贝数变异分析

Chromosome number and copy number variation analysis of 1953 tissues from spontaneous abortions were analyzed by CNV-seq technique

目的基于染色体拷贝数变异测序(copy number variation sequencing,CNV-seq)技术对1953例自然流产物进行遗传学检测,探讨流产组织染色体数目异常和拷贝数变异(copy number variation,CNV)在自然流产中的发生情况。方法回顾性统计分析2014年3月至2019年11月送检并行CNV-seq检测的1953例自然流产组织染色体变异分析结果。结果①1953例流产组织样本中,1013例存在染色体异常,异常率为51.87%,其中以染色体非整倍体最常见,共有870例,发生率为44.55%(870/1953),占异常核型的85.88%(870/1013),涉及除1号染色体外的所有染色体,以16-三体发生频率最高,其次为22-三体、X单体15-三体和21-三体。②本次研究发现孕妇年龄≥35岁组胚胎染色体异常率明显高于年龄<35岁组(56.57%vs.42.17%,P<0.05);早期自然流产(孕周<12周)的胚胎染色体异常率明显高于中晚期自然流产(58.76%vs.23.21%,P<0.01);而产妇既往流产次数与胚胎染色体的异常率无统计学意义(P>0.05)。结论胚胎染色体异常,尤其染色体非整倍体异常,是自然流产的主要原因,多发于孕早期,且随着孕妇年龄增长,胚胎染色体异常发生率显著升高。

Objective Based on copy number variation sequencing(CNV-seq)technology,we tested 1953 products of spontaneous abortion,to explore the occurrence of chromosomal abnormalities and copy number variation(CNV)in abortion tissues.Methods Retrospective statistical analysis was performed on the chromosome variation analysis results of 1953 cases of spontaneous abortion from March 2014 to November 2019 tested by CNV-seq.Results①Among the tissue samples of 1953 aborted cases,1013 had chromosome abnormalities,with an abnormal rate of 51.87%.And chromosome aneuploidy was the most common,with a total of 870 cases,with an incidence of 44.55%(870/1953),in accounts for 85.88%of chromosome abnormalities(870/1013).Involving all the chromosomes except chromosome 1,trisomy 16 had the highest occurrence frequency,followed by trisomy 22,monosomy X,trisomy 15 and trisomy 21.②In this study,it was found that the embryo chromosome abnormality rate in the pregnant women aged≥35 years old group was significantly higher than that in the pregnant women aged<35 years old group(56.57%vs.42.17%,P<0.05).The chromosome abnormality rate of early spontaneous abortion(gestational week<12weeks)was significantly higher than that of late spontaneous abortion(58.76%vs.23.21%,P<0.01).The number of previous miscarriages had little relationship with the abnormal rate of embryo chromosomes(P>0.05).Conclusions Chromosomal abnormalities,especially chromosomal aneuploidy,were the main causes of spontaneous abortion of fetus,which mostly occurred in the early stage of pregnancy.Moreover,the incidence of chromosomal abnormalities of fetus increased significantly with the age of pregnant women.