Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection--prevalence, types, sex distribution and reproductive relevance

Abstract

Chromosomal abnormalities are thought to be a major contributor to the genetic risks of infertility treatment by intracytoplasmic sperm injection (ICSI). Apart from abnormalities arising de novo, abnormal karyotypes in pregnancies conceived through assisted reproductive technology may be directly derived from predisposing parental aberrations. In a prospective study we have analysed the chromosomes of 868 male and female patients prior to planned ICSI treatment. A total of 33 aberrant karyotypes was diagnosed, corresponding to an abnormality rate of 7.6% per couple or 3.8% per individual studied. Even though male factor infertility was twice as common as female factor infertility in this cohort, 24 of the chromosomal abnormalities were found among the women. Low-level mosaicism for numerical sex chromosome anomalies was diagnosed in 20 individuals, and one patient had the triple X karyotype. With respect to structural chromosomal anomalies, we found six reciprocal and three Robertsonian translocations, two paracentric inversions and one marker chromosome. Many of the aberrations that we diagnosed could be classified as carrying only a small to moderate reproductive risk. Given the high rate of abnormal karyotypes among the female subjects, we suggest that not only the males, but both partners should be routinely karyotyped prior to ICSI.

Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: Report and review

“…Evaluation of 15 similar studies from the literature including a total of 9374 cases showed 6.54% chromosomal anomaly rate (Table 3) [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19]. In our study 11.74% of all cases revealed chromosomal alteration including inv (9).…”

Cytogenetic abnormalities in 222 infertile men with azoospermia and oligospermia in Iran: Report and review

“…Comparison of our results with the review of the literature shows a higher incidence (4-fold) of gonosomal, in particular, numerical gonosomal, chromosomal anomalies. In Table 2, in studies with a large sample size but low incidence of total chromosomal abnormality,[101218] patients are mostly oligospermic rather than azoospermic, but in surveys with small sample size[25] or a sample size similar to our study,[23] which showed high incidence of total chromosomal abnormality, cases are totally azoospermic or have the same number with oligospermia cases. On the other hand, Morel et al .,[16] in their study in the review of the literature, reported that frequency of KS in azoospermia (10.17) is about 19-fold more frequent than in oligospermia (0.57).…”

Cytogenetic findings and reproductive outcome of infertile couples referred to an assisted reproduction program

“…This study assessed the prevalence of chromosomal abnormalities in a large cohort of non-selected infertile couples attending an ART program, and the pregnancy outcome of couples with abnormal karyotype who successfully underwent to ICSI. The frequency of karyotype anomalies in infertile subject has been reported in several studies to range from 1.97% to 18.0% [1][2][3][4][5][6][7][8][9][10]. Differences in sample size, patient demographics and criteria for patient inclusion may help to explain, at least in part, the differing frequencies.…”

“…Several studies have shown a higher prevalence, in comparison to the general population, of chromosomal abnormalities in both men and women with fertility problems [1][2][3][4][5][6][7][8][9][10]. Carriers of chromosomal anomalies are at increased risk to produce genetically unbalanced gametes and consequently, in addition to reproductive impairment, to have an increased risk of adverse pregnancy outcomes such as miscarriage, still birth, and malformed offspring [11].…”