探讨不良孕产史夫妇染色体异常核型检出率及其分布，以及染色体异常核型与不良孕产史的关系，为优生优育及遗传咨询提供理论依据。

选取2016年1月1日至2017年12月31日，于济南艾迪康医学检验中心进行染色体核型检测的10 330对(20 660例)不良孕产史育龄夫妇为研究对象。采集每例受试者肘静脉血3 mL，肝素钠抗凝，取0.3 mL进行血细胞培养、标本制备，采用常规G显带技术进行染色体核型分析。对于染色体异常核型检出率、不同类型染色体异常核型占染色体异常核型总例数的比例等计数资料，采用率(%)表示。本研究遵循的程序符合2013年修订的《世界医学协会赫尔辛基宣言》要求。

①本组10 330对(20 660例)不良孕产史育龄夫妇中，共计检出染色体异常核型为1 119例(不含染色体多态性)，染色体异常核型检出率为5.42%(1 119/20 660)。其中，常染色体异常者为658例，占染色体异常核型的58.80%(658/1 119)，包括354例染色体平衡易位、205例染色体倒位、83例染色体罗伯逊易位、11例染色体插入、5例染色体重复，分别占染色体异常核型的31.64%、18.32%、7.41%、0.98%、0.45%。染色体倒位者中，以9号染色体倒位居多，偶见于1、4、7、11、12号染色体，并且多合并自然流产。性染色体异常者为440例，占染色体异常核型的39.32%(440/1 119)，包括365例性染色体数目异常(占染色体异常核型的32.62%)。其中，男性多表现为无精子症，以47，XXY染色体异常核型居多(144例)，女性多表现为原发性不孕，以45，X染色体异常核型居多(103例); 61例为性染色体结构异常、14例为性别反转，分别占染色体异常核型的5.45%、1.25%。其他罕见染色体异常核型者为21例，占染色体异常核型的1.88%(21/1 119)，如环状染色体、mar染色体等。②本组10 330对(20 660例)不良孕产史育龄夫妇中，11例为常染色体插入，5例为常染色体重复，54例为性染色体缺失，其主要临床表现为原发性不孕不育、胚胎停止发育、无精子症或重度少精子症。

染色体异常核型是导致育龄期夫妇不良孕产史的重要原因之一。对于不良孕产史夫妇，建议进行染色体核型分析和遗传咨询。临床为这类患者进行优生优育指导，可提高出生人口质量。

To analyze the detection rate of abnormal chromosome karyotypes and distribution of abnormal karyotypes of couples with poor fertility history, and to explore the relationship between abnormal chromosomal karyotypes and infertility, and to provide theoretical basis for genetic problems in eugenics.

A total of 10 330 pairs (20 660 cases) of childbearing couples with poor fertility history who received detection of chromosome karyotypes at Jinan Adicon Clinical Laboratories from January 1, 2016 to December 31, 2017 were selected as research subjects. And 3 mL elbow venous blood of each subject was collected and anticoagulated with heparin sodium. Then, 0.3 mL venous blood was selected for cell culture and specimen preparation. Routine G-band technique was used for chromosomal karyotype analysis. For the detection rate of abnormal chromosome karyotypes, and the proportion of different types of abnormal chromosome karyotypes in total abnormal chromosome karyotypes, etc. were expressed by rate (%). The procedures followed in this study were in line with the requirement of World Medical Association Declaration of Helsinki revised in 2013.

①Among the 10 330 pairs (20 660 cases) of childbearing couples with poor fertility history, 1 119 cases of abnormal chromosome karyotypes were detected (excluding chromosome polymorphism), and the detection rate was 5.42% (1 119/20 660). There were 658 cases of autosomal abnormalities, accounting for 58.80% (658/1 119) of total abnormal karyotypes, which included 354 cases of chromosome balance translocations, 205 cases of chromosome inversions, 83 cases of chromosome Robertsonian translocations, 11 cases of chromosome insertions, and 5 cases of chromosome duplication, respectively, accounting for 31.64%, 18.32%, 7.41%, 0.98% and 0.45% of total abnormal karyotypes, respectively. Most of the subjects with chromosome inversions were characterized by spontaneous abortions, and most of the inversional chromosomes were inverted on chromosome 9, and occasionally on chromosomes 1, 4, 7, 11, and 12. There were 440 cases of sex chromosome abnormalities, accounting for 39.32% (440/1 119) of total abnormal karyotypes. Among them, number of abnormal sex chromosomes occurred in 365 cases (accounting for 32.62% of total abnormal karyotypes), of which males were mostly characterized by azoospermia and 47, XXY abnormality, and most of the females were characterized by primary infertility and 45, X abnormality. There were 61 cases of sex chromosome structural abnormalities (accounting for 5.45% of total abnormal karyotypes), 14 cases of sexual reversal (accounting for 1.25% of total abnormal karyotypes). There were 21 cases of other rare abnormal chromosome karyotypes, accounting for 1.88% (21/1 119) of total abnormal karyotypes, such as circular chromosomes and mar chromosomes. ②Among the 10 330 pairs (20 660 cases) of childbearing couples with abnormal fertility history, there were 11 cases of autosomal insertion abnormal karyotypes, 5 cases of autosomal duplication abnormal karyotypes, 54 cases of sex chromosome deletion, and their main clinical manifestations were primary infertility, embryonic losses, azoospermia or severe oligozoospermia.

Abnormal chromosome karyotypes are one of the most important causes of poor fertility of childbearing couples. For childbearing couples with poor fertility history, karyotype analysis and genetic counseling are recommended. Clinically, the guidance of prenatal and postnatal care for such patients can improve the quality of birth population.