NGS技术检测复发性流产组织染色体异常的临床意义

Clinical significance of NGS technique in detecting chromosomal abnormalities in recurrent miscarriage

目的运用高通量测序技术(NGS)检测流产胚胎或绒毛组织染色体数目及结构异常,深入探讨复发性流产遗传学病因及NGS临床诊断价值及意义。方法整群抽样选择2016年1月-2016年10月的甘肃及青海两所省级医院的99例初次自然流产患者及165例复发性流产患者的胚胎或绒毛组织进行NGS技术检测,分析胚胎染色体数目和结构变异结果,探讨复发性流产与自然流产组织因病情、流产次数、年龄、孕周等因素造成的染色体异常差异。结果与初次自然流产患者相比,复发性流产患者胚胎染色体数目异常率(36.4%versus 44.4%)及结构异常率(6.8%versus 10.2%)均低,但差异无统计学意义(P>0.05)。初次自然流产与复发性流产患者流产组织三倍体发生均以22、16号染色体多见,单倍体以X染色体单体多见,但两者染色体非整倍体发生顺位有差异。两种流产方式在染色体结构异常发生率方面,均以染色体结构缺失为主,染色体结构重复次之。孕妇年龄越大,流产次数越少,胚胎染色体异常发生率越高,差异有统计学意义(P<0.05)。结论 NGS技术对遗传因素造成的高龄流产及复发性流产查因均适用,可作为流产组织常规染色体核型分析的补充检测。

Objective：To explore recurrent miscarriage genetic etiology and high-throughput sequencing technologies（NGS）diagnostic value by using NGS detection. Methods：NGS technology were detected in abortion tissue between 99 patients with primary spontaneous abortion and 165 patients with recurrent miscarriage in Gansu and Qinghai provincial hospitals on January 2016 to October 2016. The difference of abnormal embryo chromosome number and structure were analyzed with difference factors,such as natural abortion number,age,gestational age. Results：The aneuploidy rate（36.4% vs. 44.4%）and the structural abnormalities rate（6.8% vs. 10.2%）in embryo chromosome with recurrent miscarriage patients were lower than primary spontaneous abortion patients,though there was no statistically significant difference（P 〉0.05）. 22,16,X chromosome number were happened in all spontaneous abortion patients though there were differences in the sequence. The chromosome structure missing was majority in the chromosomal structure abnormality,the chromosome structure repeat was take second place. The higher the incidence of fetal chromosome abnormality with the higher age of pregnant women,the fewer the number of miscarriages. The difference was statistically significant（P〈 0.05）. Conclusion：NGS detection can be used as an reliable technology for the conventional karyotype analysis of the abortion diagnosis.