Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian 16150, Malaysia.
Singapore Med J. 2009 Oct;50(10):1008-12.
This study was done to determine the prevalence of chromosomal abnormalities and the subsequent reproductive outcome in couples who had two or more miscarriages.
56 couples with a history of at least two previous miscarriages were evaluated for prevalence and types of chromosomal abnormalities from their karyotype records. The study was a retrospective one, and subsequent reproductive outcome after a period of 12-24 months from the time of karyotyping was obtained by telephone interviews and scrutiny of the case records. The comparison of reproductive outcome was done by chi-square statistics.
Five couples (8.9 percent) had a chromosomal abnormality in one partner. Three cases of reciprocal translocations t(5;11), t(9;14), dup(9q); one Robertsonian D/D translocation 13/14; and one mosaic Down syndrome male karyotype were found. Among the 32 couples available for follow-up, there was a lower incidence of subsequent live healthy births among chromosomally-normal couples (35.7 percent) compared to chromosomally-abnormal ones (25 percent). However, the difference was not statistically significant (p-value is 1.0). There was a lower incidence of subsequent abortions in chromosomally-normal couples (42.8 percent) compared to chromosomally-abnormal ones (50 percent), but the difference was also not statistically significant (p-value is 1.0).
Chromosomal abnormalities were seen in 8.9 percent of the couples, and translocations were the commonest abnormality found. The frequencies of subsequent live healthy births and subsequent abortions showed no significant difference between couples having normal karyotypes and those having chromosomal abnormality in one partner.
本研究旨在确定有两次或更多次流产史的夫妇中染色体异常的发生率及其后续生殖结局。
对 56 对至少有两次既往流产史的夫妇进行了评估,以确定其核型记录中染色体异常的流行率和类型。这是一项回顾性研究,通过电话访谈和仔细检查病历,获得了核型分析后 12-24 个月的后续生殖结局。采用卡方检验比较生殖结局。
五对夫妇(8.9%)的一方存在染色体异常。发现三例相互易位 t(5;11)、t(9;14)、dup(9q);一例罗伯逊易位 13/14;一例嵌合型唐氏综合征男性核型。在 32 对可进行随访的夫妇中,染色体正常的夫妇(35.7%)后续活产健康婴儿的发生率低于染色体异常的夫妇(25%),但差异无统计学意义(p 值为 1.0)。染色体正常的夫妇(42.8%)后续流产的发生率低于染色体异常的夫妇(50%),但差异也无统计学意义(p 值为 1.0)。
8.9%的夫妇存在染色体异常,易位是最常见的异常。染色体正常和一方染色体异常的夫妇的后续活产健康婴儿和后续流产的发生率无显著差异。