285例自然流产患者胚胎染色体核型分析

Embryonic chromosome karyotype analysis in 285 patients with spontaneous abortion

目的探究早期自然流产患者胚胎染色体异常的发生率,并对引发胚胎染色体异常的相关因素进行分析。方法回顾性分析2017年1月至2020年12月期间就诊于山东中医药大学附属医院生殖与遗传中心的285例早期自然流产后成功进行流产物组织细胞培养并进行高通量DNA测序分析的患者的临床资料,计算胚胎染色体异常的发生率,并分析孕妇年龄、体重指数(BMI)与胚胎染色体异常的相关性。结果285例早期自然流产患者中,胚胎染色体异常者177例(62.11%),其中染色体数目异常占比最高(83.05%),其次为拷贝数变异(CNVs)(16.95%)。年龄>35岁自然流产患者胚胎染色体异常发生率明显高于年龄≤35岁患者,差异具有统计学意义(P<0.01)。BMI<18.5kg/m 2或>24.9kg/m 2的自然流产患者胚胎染色异常占比显著高于BMI为18.5~24.9kg/m 2的患者,差异具有统计学意义(P<0.05)。结论胚胎染色体异常是发生早期自然流产的主要原因,高龄和BMI异常是引发胚胎染色体异常的危险因素;胚胎染色体检测对明确自然流产病因有重要临床意义,并可为再次妊娠提供科学指导。

Objective To explore the incidence of abnormal embryonic chromosomes in early spontaneous abortion,and analyze the related factors of abnormal embryonic chromosomes.Methods A retrospective analysis of the clinical data of 285 patients from the Reproductive and Genetic Center of Affiliated Hospital of Shandong University of Traditional Chinese Medicine,who underwent tissue cell culture and high-throughput DNA sequencing analysis successfully after spontaneous abortion from January 2017 to December 2020,to summarize the incidence of abnormal embryonic chromosomes and analyze the correlation between maternal age,body mass index(BMI)and abnormal embryonic chromosomes.Results Among 285 patients with early spontaneous abortion,177(62.11%)had chromosomal abnormalities,among which chromosomal number abnormalities accounted for the highest proportion(83.05%),followed by copy number variants(CNVs)(16.95%).The incidence of chromosomal abnormalities in spontaneous abortion patients aged>35 years was significantly higher than that in patients aged≤35 years(P<0.01).The proportion of chromosomal abnormalities in spontaneous abortion patients with BMI<18.5kg/m 2 or>24.9kg/m 2 was significantly higher than that in patients with BMI 18.5-24.9kg/m 2,and the difference was statistically significant(P<0.05).Conclusions Embryonic chromosome abnormality is the main cause of early spontaneous abortion.Old age and BMI abnormalities are risk factors for abnormal embryonic chromosomes.Embryonic chromosomes detection has important clinical significance for identifying the causes of spontaneous abortion and can provide scientific guidance for repregnancy.