200对不良孕产史夫妇的细胞遗传学分析

Cytogenetical analysis on 200 couples with adverse pregnancy history

目的:探讨染色体异常和不良孕产史的关系。方法:对200对有不良孕产史的夫妇(研究组)及100对已正常生育子女的夫妇(对照组)进行外周血染色体分析。结果:在有不良孕产史的夫妇中异常发生率为7.0%,显著高于对照组(P<0.01),在28例异常核型中男性18例占64.3%,女性10例占35.7%。异常核型中性染色体数目异常2例占7.1%,常染色体结构异常15例占53.5%,染色体多态性11例占39.3%。结论:染色体异常是导致不良孕产史的重要遗传学原因,对其进行染色体检查有助于病因的分析与诊断,并为生育指导提供重要的依据。

Objective： To explore the relationship between chromosomal abnormality and adverse pregnancy history. Methods： Chromosomal analysis of peripheral blood was performed in 200 couples with adverse pregnancy history （study group） and 100 normal fertile couples with normal children （control group） . Results： The incidence of chromosomal abnormality in study group was 7. 0%, which was statistically significantly higher than that in control group （ P 〈 0. 01 ） . Among 28 patients with abnormal karyotypes, the proportions of male patients and female patients were 64. 3% （18 patients） and 35.7% （ 10 patients）, respectively. Among the patients with abnormal karyotypes, 2 patients were found with numerical abnormality of sex chromosome, accounting for 7.1% ; 15 patients were found with structural abnormality of autosome, accounting for 53. 5% ; 11 patients were found with chromosomal polymorphism, accounting for 39. 3%. Conclusion： Chromosomal abnormality is an important genetical reason inducing adverse pregnancy history, chromosomal examination is helpful to etiological analysis and diagnosis, which can provide important reference for birth guidance.