反复早期自然流产的遗传因素分析及咨询指导

发布时间：2018-05-25 14:36

本文选题：复发性流产 + 绒毛　；参考：《中国现代医学杂志》2017年05期

【摘要】：目的探讨反复早期自然流产(RSA)与染色体异常的相关性,提供遗传咨询意见。方法对248对(496例)有RSA史的夫妇进行外周血淋巴细胞的染色体核型分析,对其中58例RSA患者取无菌绒毛进行细胞培养、染色体制备及核型分析。结果 248对RSA夫妇中,共检出染色体异常核型19例,总异常检出率为3.83%,其中,男性11例,女性8例。平衡易位是最主要的异常类型,共5例,9号臂间倒位5例,罗氏易位4例,染色体多态性3例,短臂增加、长臂缺失各1例。58例流产绒毛培养成功44例,其中染色体异常25例(56.82%),异常核型以三体症最多(20/25,80%),其次为三倍体(3/25,12%),单体(2/25,8%)。结论染色体异常尤其是绒毛染色体数目异常、外周血染色体易位是RSA的常见遗传学原因,对RSA夫妇和流产绒毛进行细胞遗传学分析对明确病因、提供遗传咨询指导再次成功妊娠有着重要的临床意义。
[Abstract]:Objective to investigate the relationship between recurrent early spontaneous abortion (RSAs) and chromosomal abnormalities and provide genetic advice. Methods chromosome karyotypes of peripheral blood lymphocytes were analyzed in 248 couples with RSA history. Among them, 58 patients with RSA were collected from aseptic villi for cell culture, chromosome preparation and karyotype analysis. Results among the 248 RSA couples, 19 cases were found to have abnormal karyotype, and the total abnormal rate was 3.83%, of which 11 cases were males and 8 cases were females. Balanced translocation was the most important abnormal type, including 5 cases, 5 cases of interarm inversion, 4 cases of Roche translocation, 3 cases of chromosome polymorphism, 1 case of short arm increase and 1 case of loss of long arm. 44 cases were successfully cultured in abortive villi. Among them, there were 25 cases with chromosomal abnormalities (56.82%). The most abnormal karyotype was trisomy (20 / 25), followed by triploid (3 / 25 / 2512), single chromosome (2 / 25 / 25). Conclusion chromosomal abnormalities, especially in the number of villi, and chromosomal translocation in peripheral blood are the common genetic causes of RSA. Cytogenetic analysis of RSA couples and abortive villi is helpful to identify the etiology. It is of great clinical significance to provide genetic counseling for successful pregnancy.
【作者单位】：南京医科大学附属无锡妇幼保健院产前诊断中心;南京医科大学附属无锡妇幼保健院计划生育部;
【分类号】：R714.21

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