Mierla D, Malageanu M, Tulin R, Albu D
Department of Genetics, Life Memorial Hospital, Bucharest, Romania.
Department of Genetics, Life Memorial Hospital, Bucharest, Romania; Department of Gynecology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
Balkan J Med Genet. 2015 Dec 30;18(1):23-30. doi: 10.1515/bjmg-2015-0002. eCollection 2015 Jun.
The purpose of this study was to establish a correlation between the presence of chromosomal abnormalities in one of the partners and infertility. This retrospective study was performed at the Department of Reproductive Medicine, Life Memorial Hospital, Bucharest, Romania, between August 2007 to December 2011. Two thousand, one hundred and ninety-five patients with reproductive problems were investigated, and the frequency of chromosomal abnormalities was calculated. The control group consisting of 87 fertile persons who had two or more children, was investigated in this retrospective study. All the patients of this study were investigated by cytogenetic techniques and the results of the two groups were compared by a two-tailed Fisher's exact test. In this study, 94.99% patients had a normal karyotype and 5.01% had chromosomal abnormalities (numerical and structural chromosomal abnormalities). In the study group, numerical chromosomal abnormalities were detected in 1.14% of infertile men and 0.62% of infertile women, and structural chromosomal abnormalities were detected in 1.38% of infertile men and 1.87% of infertile women, respectively. The correlation between the incidence of chromosomal anomalies in the two sexes in couple with reproductive problems was not statistically significant. Recently, a possible association between infertility and chromosomal abnormalities with a significant statistical association has been reported. Our study shows that there is no association between chromosomal abnormalities and infertility, but this study needs to be confirmed with further investigations and a larger control group to establish the role of chromosomal abnormalities in the etiology of infertility.
本研究的目的是确定夫妻一方染色体异常与不孕不育之间的相关性。这项回顾性研究于2007年8月至2011年12月在罗马尼亚布加勒斯特生命纪念医院生殖医学科进行。对2195例有生殖问题的患者进行了调查，并计算了染色体异常的发生率。在这项回顾性研究中，对由87名育有两个或更多子女的可育者组成的对照组进行了调查。本研究的所有患者均采用细胞遗传学技术进行调查，两组结果采用双侧Fisher精确检验进行比较。在本研究中，94.99%的患者核型正常，5.01%的患者有染色体异常（染色体数目和结构异常）。在研究组中，分别在1.14%的不育男性和0.62%的不育女性中检测到染色体数目异常，在1.38%的不育男性和1.87%的不育女性中检测到染色体结构异常。有生殖问题夫妻中两性染色体异常发生率之间的相关性无统计学意义。最近，有报道称不孕不育与染色体异常之间存在可能的关联，且具有显著的统计学关联。我们的研究表明染色体异常与不孕不育之间没有关联，但本研究需要通过进一步调查和更大的对照组来证实，以确定染色体异常在不孕不育病因中的作用。
