Prevalence of Chromosomal Abnormalities in Infertile Couples in Romania

Abstract

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.

Reproductive success of assisted reproductive technology in couples with chromosomal abnormalities

“…In this study, as part of the routine evaluation of the infertile couple, karyotype allowed the identification of chromosome abnormalities in 233 couples, which accounts for 7.80% (233/2990) of our population. This is consistent with recent studies [11][12][13] that reported a similar prevalence of chromosomal anomalies in the infertile population, a rate 2-3 times higher than the general population [14].…”

“…Mosaics were by far the most prevalent anomaly, accounting for 50.85% of affected individuals, and were mainly found in women, mosaic monosomy X being the most common. This represents an important cause of infertility, considering that primary amenorrhea and lack of pubertal development presents in 90% of women with 45,X or 45,X/46,XY, 45,X/46,XX or 45,X/ 47,XXX mosaicism [15], and is consistent with findings from similar studies [13]. Because it has been shown that the frequency of low-level X aneuploidy is correlated with age and gender but not with reproductive history [9], we conducted the same analysis performed in Table 4 for all couples but removing all the mosaic cases.…”

Chromosomal abnormalities in couples with recurrent spontaneous miscarriage: a 21-year retrospective study, a report of a novel insertion, and a literature review

“…The rate of chromosomal abnormalities in the general population is less than 1% [12]. Reciprocal translocation (RT) is one of the most frequent structural rearrangements observed in humans [13]. The individuals carrying this type of translocation are clinically normal, but they do have an increased risk of having children with unbalanced karyotypes.…”

“…Translocations involving both the homologues of chromosome 13 and the homologues of chromosome 21 were observed in three women. Translocation between chromosomes(13,22) and(15,21) was identified in one woman and one man respectively.…”

Correlation of genetic results with testicular histology, hormones and sperm retrieval in nonobstructive azoospermia patients with testis biopsy

“…Among the chromosomal alterations, polymorphic variants are known to occur in 2.7% of the general population. However, much higher frequencies (12.2%–38%) have been reported in infertile males (Kate et al., ; Mierla, Malageanu, Tulin, & Albu, ). We found that polymorphic chromosomal variants were the most common ones (11.5%) in our present study, higher than in some Western countries (0.8%–3.2%) (Akbari et al., ; Frouzandeh et al., ; Mohammed et al., ; Rao et al., ) and lower than in the India region (16.7%) (Kate et al., ).…”