反复早期自然流产的遗传因素分析及咨询指导

Exploration on genetic etiology in recurrent spontaneous abortion and gentetic counseling

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。

Objective To explore the relationship between early recurrent spontaneous abortion and chromosome abnormality, and to provide proper genetic counseling. Methods Lymphocytes in peripheral blood of 248 couples （496 cases） with early recurrent spontaneous abortion were collected, then chromosomal karyotyping was performed. Fetal chorionic villus samples were collected from 58 cases of women diagnosed with recurrent spontaneous abortion before 14 weeks gestation. All villi specimens were cell cultured and karyotyped to confirm the fetal chromosomal status. Results Among 248 couples of recurrent spontaneous abortion, 19 cases with abnormal karyotypes were detected, the total abnormal rate was 3.83% （19/496）. Among those samples, 11 men and 8 women with abnormal karyotypes, including 5 cases of balanced translocation, 5 cases of inversion in chromosome 9, 4 cases of Roche translocation, 3 cases of chromosomal polymorphism, and 2 cases of chromosomal deletion or addition. Among 44 successfully cultured and karyotyped samples, the chromosomal abnormality rate was 56.82%. The results of karyotyping yielded 18 autosomal trisomies （20/25, 80%）, 3 cases of triploidy （3/25, 12%）, and 2 cases of monosomy X （2/25, 8%）. Conclusions Embryo chromosomal abnormality and translocation karyotype are two of the main important contributors to early recurrent spontaneous abortion. Chromosome examination among the couples of recurrent spontaneous abortion and chorionic villous samples has important influence on identification of etiology and genetic counseling in routine prepotent work.