摘要目的 通过二代测序(next generation sequencing,NGS)技术对325例自然流产组织进行检测,探讨流产组织染色体数目畸变及基因拷贝数变异(copy number variation,CNV)在自然流产中的发生率.方法 回顾性统计分析2014年11月至2017年11月送检并行高通量基因测序分析的325例自然流产胚胎绒毛组织染色体异常的结果.结果 (1)325例流产组织绒毛样本中,检出染色体异常标本171例(52.62％),以染色体三体型最多见(71.35％),除了1号、11号和19号染色体外,其余染色体均有检出,其中16-三体最多见(22.22％),其次为22-三体(14.04％)和15-三体(9.94％);检出双重三体7例(4.09％);45,X单体20例(11.70％),其中有4例合并三体;XNN三倍体4例(2.34％),其中有1例合并三体;检出Chr21号染色体单体3例(1.75％);检出嵌合体5例(2.92％);CNV≥5 Mb的重复或缺失10例(5.85％),其中有2例合并三体.(2)本次研究可见孕妇年龄≥35岁组胚胎染色体异常率(68.75％)高于年龄＜ 35岁组(45.85％),差异有统计学意义(P＜0.01);早期自然流产(孕周＜12w)的胚胎染色体异常率明显高于中晚期自然流产(孕周≥12w),差异有统计学意义(P＜0.05);而产妇既往流产次数与胚胎绒毛染色体的异常率关系不大(P＞0.05);结论 胚胎染色体异常是早孕期自然流产的主要原因,高龄孕妇胚胎染色体异常率较高,高龄人群应更注重孕早期胎儿染色体检查.

abstractsObjective To detect 325 cases of spontaneous abortion tissues by next generation sequencing (NGS) technology,to investigate the incidence of chromosome number aberration and copy number variation (CNV) in spontaneous abortion.Method A retrospective analysis of the chromosomal abnormalities in chorionic villi collected from 325 patients with spontaneous abortion from November 2014 to November 2017 was performed.Results (1) In 325 cases of abortion tissue,171 cases of chromosomal abnormalities were detected (171/325,52.62％).Among 171 cases of chromosomal abnormalities,trisomy was the most common (71.35％).The other chromosomes were detected except for 1,11,and 19-trisomy,16-trisomy showed the highest rate (22.22％,38/171),followed by 22-trisomy (14.04％,24/171) and 15-trisomy (9.94％,17/171).7 cases of double trisomy were detected (4.09％).There were 20 cases (11.70％) of monosomy 45,X,of which 4 cases were combined with trisomy.There were 4 cases (2.34％) ofXNN triploid,of which 1 case was combined with trisomy.3 cases (1.75％) of monosomy Chr21 were detected.5 cases (2.92％) of chimerism were detected.10 cases (5.85％)had chromosome duplication or deficiency with CNV ≥ 5 Mb,of which 2 cases were combined with trisomy.(2) The rate of chromosome abnormalities in pregnant women over 35 years old was higher than that in pregnant women ＜35 years old (68.75％ vs.45.85％,P＜0.01),the rate of chromosome abnormalities in pregnant women with early spontaneous abortion (gestational age ＜12 weeks) was higher than that in pregnant women with late spontaneous abortion (gestational age ≥ 12 weeks) (P＜0.05),the rate of chromosome abnormalities was not significantly related to the times of past abortion (P＞0.05).Conclusion Fetal chromosomal abnormality is the main cause of spontaneous abortion in early pregnancy.The rate of chromosomal abnormalities in older pregnant women is relatively high.The older pregnant women should pay more attention to fetal chromosome examination in early pregnancy.