173对生育异常夫妇的外周血染色体核型分析  

Analysis of chromosome karyotype in peripheral blood of 173 couples with abnormal fertility

作　　者：王艳丽 位婷婷 张超楠 刘新新 郝戈芳 李乐瑶 郭文文 Wang Yanli;Wei Tingting;Zhang Chaonan;Liu Xinain;Hao Gefang;Li Leyao;Guo Wenwen(Henan Institute of Re productive Health Science and Technology,National Health Commission Key Laboratory of Birth Defects Prevention,Henan Key Laboratory of Population Defects Prevention,Zhengzhou 450002,Henan,China)

机构地区：[1]河南省生殖健康科学技术研究院、国家卫生健康委出生缺陷预防重点实验室、河南省人口缺陷干预技术研究重点实验室,河南郑州450002

出　　处：《中国产前诊断杂志（电子版）》2021年第3期24-28,48,共6页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：河南省属科研院所基本科研业务费专项资金项目(JBKY2017201)。

摘　　要：目的 探讨外周血染色体核型异常和染色体多态性对生育异常(不孕不育、不良孕产史)的影响。方法 对2016年9月至2019年3月期间来本院遗传咨询的173对夫妇,通过培养其外周血,制备染色体标本,G显带处理,进行染色体核型分析。结果 173对夫妇即346例患者中检出15对夫妇核型异常,总异常检出率为8.6%(15/173)(指至少有一方核型异常的夫妇占所有夫妇的比例);检出22对夫妇染色体核型多态性,检出率为12.7%(22/173)(指至少有一方染色体核型多态性的夫妇占所有夫妇的比例);173对夫妇中因不良孕产史就诊的有124对(异常核型检出率为5.7%,染色体多态性检出率为8%),因不孕症/不育症就诊的有49对(异常核型检出率为2.9%,染色体多态性检出率为4.6%)。结论 夫妻双方染色体核型异常和染色体多态性是生育异常的重要因素之一,因此,有必要对生育异常的夫妇进行染色体检查,为临床治疗提供参考依据。ObjectiveTo explore the influence of chromosomal karyotype abnormalities and chromosomepolymorphism on fertility abnormality(infertility or negative reproductive history).Methods Selecting172 couples who came to our hospital from September 2016 to March 2019.Through the cultivation oftheir peripheral blood,prepared chromosome specimens to analysis karyotype by G banding treatment.Results Among the 173 couples,15 couples had abnormal karyotypes,and the total abnormalitydetection rate was 8.6%(15/173)(referring to at least one karyotype abnormality accounts for theproportion of all couples).22couples had chromosome polymorphism,the detection rate was 12.7%(22/173)(referring to at least one Chromosome polymorphism accounts for the proportion of all couples).There were 124 pairs of 173 couples who had a history of adverse pregnancy(abnormal detection rate was5.7%,chromosome polymorphism detection rate was 8%),and 49 pairs of infertility treatments(abnormal detection rate was 2.9%,chromosome polymorphism detection rate was 4.6%).ConclusionsChromosomal karyotype abnormalities and chromosomal polymorphisms in couples are important factors offertility abnormalities,therefore,it is necessary to carry out chromosome examination for couples withfertility abnormalities,to provide reference for clinical treatment.

关 键 词：生育异常 染色体核型异常 染色体多态性 

分 类 号：R446[医药卫生—诊断学]