基于辅助生殖人群的复发性流产夫妇染色体核型回顾性分析

目的 分析实施辅助生殖技术夫妇的外周血染色体核型,为临床诊疗和遗传咨询提供理论依据.方法 回顾性分析2015年1月至2018年12月山东大学附属生殖医院实施辅助生殖的1438例(719对)复发性流产(RSA)患者及3292例(1646对)自然流产1次患者的外周血染色体核型,比较染色体变异的种类、发生率及其在男性和女性中...

A retrospective analysis of chromosome karyotypes in RSA couples from assisted reproductive population

Objective To analyze the peripheral blood chromosome karyotypes of patients assisted with reproductive technology, so as to provide reference for the clinical diagnosis and treatment and genetic counseling. Methods From Jan. 2015 to Dec. 2018, 1 438(719 couples)patients with recurrent spontaneous abortion(RSA)and 3 292(1 646 couples)patients with one-time spontaneous abortion undergoing assisted reproduction were selected for chromosome karyotype analysis. The types, incidences and ratios of chromosome variations between males and females were compared. Relationship between the number of spontaneous abortions and chromosome karyotypes was analyzed. Results Of the 1 438(719 couples)RSA patients, 320 chromosome abnormalities were detected, among which 165 were male cases and 155 were female cases. Chromosomal structural aberrations accounted for 57.58% of chromosomal abnormalities. The ratio of mutual translocations was the highest. For the number of abortions, significant differences were detected in chromosome reciprocal translocation and Robertsonian translocation between one-time spontaneous abortion group and RSA group(P<0.01), but no significant difference in chromosome inversion was observed(male P=0.21, female P=0.83). As the number of abortions increased, the trends of male and female chromosome aberration were statistically significant(P<0.01). Conclusion The rate of chromosomal abnormality in patients with one-time spontaneous abortion is lower than that in RSA patients. The most common chromosomal abnormality in RSA patients is chromosomal translocation, and the rate of chromosomal abnormality is not related to the number of abortions.