4520例生殖异常夫妇外周血染色体核型分析

Analysis of chromosome karyotypes in 4520 couples with reproductive abnormalities

目的探讨生殖异常夫妇的外周血染色体异常核型及其临床表现。方法回顾性分析2011年7月~2019年12月到河北省邯郸市中心医院检验科行外周血染色体核型分析的4520例生殖异常夫妇的外周血染色体G显带核型及其临床表现。结果4520例行外周血染色体检查的生殖异常夫妇按临床表现分为不孕不育、流产死胎、异常儿生育史以及辅助生殖前检查四组,共检出染色体异常152例(152/4520,3.36%),包括性反转8例,均为不孕不育;染色体数目异常及其嵌合57例,以不孕不育最常见;染色体结构异常87例(包括染色体相互易位39例,罗氏易位16例,倒位27例,缺失2例,等臂染色体3例),以流产死胎最常见。不孕不育、流产死胎、异常儿生育史以及辅助生殖前检查组染色体异常检出率分别为4.09%、3.29%、2.38%、2.46%。结论染色体异常是导致夫妇生殖异常的重要原因之一。生殖异常包括欲行辅助生殖夫妇,建议其行外周血染色体核型分析和遗传咨询,有助于明确病因并及时选取合理的治疗措施。

Objective:To investigate the abnormal chromosome karyotypes and their clinical manifestations in reproductive abnormal couples.Methods:The karyotypes and phenotypes of 4520 patients with abnormal reproduction were analyzed retrospectively from July 2011 to December 2019 in HanDan Central Hospital of Hebei province.Results:4520 couples with abnormal reproductive history were divided into four groups according to different clinical manifestations:infertility,abortion/stillbirth,abnormal birth history and pre-assisted reproductive examination.There were 152 cases with abnormal chromosomal karyotypes,the abnormal percentage was 3.36%.It included with 8 cases of sex reverse syndrome with infertility.57 cases of chromosomal numerical abnormality and mosaic and 87 cases of chromosomal structure abnormality.Patients with chromosomal structure abnormality included 39 cases of reciprocal translocation,16 cases of Robertsonian translocation,27 cases of inversion,2 cases of deletion,3 cases of isochromosome.Infertility was the most common in patients with chromosomal numerical abnormality,and abortion/stillbirth were the most common in patients with chromosomal structure abnormality.The detection rates of infertility,abortion/stillbirth,abnormal birth history and pre-assisted reproduction examination were 4.09%,3.29%,2.38%and 2.46%,respectively.Conclusion:Chromosome abnormality was one of the important causes of reproductive abnormality.For couples with reproductive abnormalities,including those who were performed assisted reproduction,it was suggested to conduct chromosome karyotype analysis and genetic counseling,which was helpful to identify the causes and select reasonable treatment measures.