Chromosome Abnormalities and Yq Microdeletions in Infertile Italian Couples Referred for Assisted Reproductive Technique

Abstract

This study analyses the prevalence of karyotype aberrations and Yq microdeletions in infertile couples undergoing intracytoplasmic sperm injection (ICSI). Before undergoing ICSI, each partner of 470 infertile couples was screened for karyotype aberrations by QFQ-banding technique on peripheral blood lymphocytes; male partners were also screened for Yq microdeletions. In 2.55% of the couples karyotype aberrations were found including numerical and structural alterations of autosomes and sex chromosomes. The female group had a high prevalence of low-level sex chromosome mosaicism (1.28%) and 5 cases of structural autosomal abnormalities (1.06%). The male group had 7 structural abnormalities of the autosomes (1.49%), 2 supernumerary marker chromosomes (0.42%), one case of low level gonosomal mosaicism (0.21%), and 2 cases of Y chromosome inversion (0.42%). Eight cases of Yq microdeletions (1.70%) were also found. Screening for genetic factors, chromosomal abnormalities and Yq microdeletions is indicated for couples undergoing assisted reproductive techniques due to the higher prevalence of these factors in infertile couples compared to the population as a whole although different chromosome aberrations have been reported elsewhere.

Somatic chromosomal abnormalities in couples undergoing infertility treatment by intracytoplasmic sperm injection

“…In total, data from 10,726 men and 8390 women have been evaluated, yielding mean rates of abnormal karyotypes of 3.6% and 4.2%, respectively. In contrast, the frequency of aberrations in some recently published studies varies from 2.2%-5.2% for male and 0.9%-2.34% for female patients (Kayed et al 2006;Marchina et al 2007;Riccaboni et al 2008). In the present investigation, we found the same incidence of chromosomal abnormalities (3.3%, 14/430) for both sexes.…”

“…In the review by Mau-Holzmann (2005), only four comparable complex rearrangements have been reported: t(1;9;21), t(4;11;18), t(4;13;9) and t(8;13;16). In addition, Basaran et al (2004) detected a male with t(5;6;14) and Marchina et al (2007) a case with t(1;2;8). As stated by Chantot-Bastaraud et al (2008), the probability of finding chromosomally balanced spermatozoa for ICSI is very low in these cases.…”

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

“…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].…”

A rare case of lethal campomelic dysplasia

“…5 Spermatozoa selection for ICSI is typically based on motility and morphology attributes, without information about the chromosomal status. 6 In children born after standard in vitro fertilization (IVF) and ICSI, the rate of major congenital malformations is around 4%.…”