滇西地区1512例不明原因不良孕产女性患者染色体分析

Chromosomal analysis of 1512 cases of female patients with unexplained adverse pregnancy in West Yunnan

目的探讨原因不明的不良孕产女性患者与异常染色体核型的关系,为进一步寻求临床治疗提供理论依据。方法回顾性比较分析大理大学第一附属医院自2013年8月至2016年10月接受检查的1 512例不良孕产女性患者的检查染色体核型,采用外周血淋巴细胞培养,常规制片及G显带,对每个受检者计数50个核型,分析5个G显带核型。异常者分析核型10个以上。必要时行C和R显带分析。结果 1 512例女性患者染色体检查,染色体异常62例,占4%,其中染色体结构异常57例,占91.94%(57/62),成为了异常染色体的主要部分;其分布为性染色体结构异常3例,占4.84%(3/62),常染色体结构异常54例,占87.10%(54/62)。数目异常5例,占8.06%(5/62),其中性染色体1例,占1.61%,常染色体4例,占6.45%。结论原因不明的不良孕产女性患者染色体核型分析能有效地检出异常染色体核型,对于诊断病因、干预以及靶向治疗有着十分重要的作用。

Objective To explore the relationship between female patients with unexplained adverse pregnancy and abnormal chromosomal karyotypes, and to provide the theoretical basis for further clinical treatment. Methods Chromosome karyotype of 1 512 cases of female patients with adverse pregnancy who received examination in the First Affiliated Hospital of Dali University from August 2013 to October 2016 were retrospectively and comparatively analyzed. Peripheral blood lymphocyte was used for culture, and chromosome preparation and G-banding were performed.Fifty karyotypes were counted for each subject, and five G-banded karyotypes were analyzed. For patients with abnormalities, more than 10 karyotypes were analyzed. C-banded and R-banded karyotypes analysis were performed if necessary. Results Sixty-two cases of chromosome abnormalities were detected in 1 512 female patients, accounting for4%. Among them, chromosomal structural abnormality were detected in 57 cases, accounting for 91.94%（57/62）,which became a major part of the abnormal chromosome, including 3 cases of sex chromosome structural abnormality（4.84%, 3/62） and 54 cases of autosomal structural abnormalities（87.10%, 54/62）. Five cases of numerical abnormalities of chromosomes were found in 62 cases, accounting for 8.06%（5/62）, including 1 case in sex chromosome（1.61%） and 4 cases in autosomes（6.45%）. Conclusion Chromosomal karyotype analysis of female patients with unexplained adverse pregnancy can effectively detect abnormal chromosome karyotype, which plays an important role in the diagnosis of etiology, intervention and targeted therapy.