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

Abstract

It is still undefined whether all the couples entering an assisted reproduction program should undergo to karyotype analysis. The present study was conducted to determine the prevalence of chromosomal abnormalities in a non-selected sample of 1,146 couples referred to assisted reproduction technologies (ART), and to analyze the outcome of pregnancies from couples in whom cytogenetic anomalies were detected. Irrespective of the infertility factor, fertilization was achieved by intracytoplasmic sperm injection (ICSI). A total number of 35 karyotype anomalies were diagnosed, corresponding to an abnormality frequency of 1.52% (1.83% for men and 1.22% for women). As could be expected, the majority of men presenting karyotype anomalies had a low sperm count. Among women, the majority of cytogenetic anomalies were detected in individual not presenting risk factors for aberrant karyotype. Around 41% of pregnancies achieved in couples presenting chromosomal anomalies ended in spontaneous abortion. Information on fetal karyotype was limited. No major malformations were observed among newborns from parents with abnormal karyotype. In consideration of the elevated frequency of pregnancy loss, it seems advisable to recommend that chromosomal analysis be performed in all couples undergoing ART. This with the aim of identifying patients that would possibly benefit from pre-implantation genetic diagnosis.

Chromosomal aberrations, Yq microdeletion, and sperm DNA fragmentation in infertile men opting for assisted reproduction

“…The relative frequency of normal or unbalanced gametes appears to depend largely on the chromosomes involved, the size of the region involved, the presence of heterochromatin, location of the breakpoints, and likelihood of recombination events taking place within the translocated segments (Tempest and Simpson, 2010). In agreement with the findings of a recent study (Antonelli et al, 2011) on infertile men with Y chromosome aberrations (microscopic chromosomal abnormalities with or without AZF deletions), we also emphasize that the translocations observed by us could have led to defects in the pairing and recombination of homologous chromosomes during meiotic prophase I. Tiboni et al (2011) reported that 4.5% of azoospermic and severe oligozoospermic men, 0.53% of mild oligozoospermic men, and 1.21% of normozoopsermic infertile men had chromosomal abnormalities. Consequently, it is important to screen infertile men for chromosomal abnormalities, although they represent a small fraction (∼2%) of infertile cases in our cohort of samples.…”

Genetic screening in Italian infertile couples undergoing intrauterine insemination andin vitrofertilization techniques: a multicentric study

“…Regarding karyotype analysis in IVF-ICSI population, we observed a prevalence of chromosomal anomalies of 1.53% and 1.82% in women and men, respectively. The prevalences were higher than those observed in general population but are lower than those reported in the literature [16][17][18][19][20].…”

Clinical Pregnancy After Assisted Hatching Rate in Young women undergoing Intra Cytoplasmic Sperm Injection

“…As with any technique in assisted reproduction, the long term consequences of ICSI remain an issue of concern. In particular, an increase in chromosome abnormalities (Tiboni et al, 2011;Woldringh et al, 2010) and an increase in imprinting disorders in ICSI-conceived newborns have been observed (Neelanjana and Sabaratnam, 2008). These findings might be due to the selected population undergoing fertility treatments or to the procedures themselves.…”