Could Sperm Aneuploidy Rate Determination Be Used as a Predictive Test Before Intracytoplasmic Sperm Injection?

Abstract

Chromosome abnormalities in embryos are a major cause of implantation and development failures. Some couples with normal karyotypes have repeated implantation failures after intracytoplasmic sperm injection (ICSI). In order to value patients at risk for genetic ICSI failures and the validity of sperm aneuploidy analysis, we have studied cytogenetic abnormalities in sperm from ICSI patients. Twenty-nine patients with normal karyotypes were included. Ten patients had at least 4 ICSI treatments without pregnancy (group A). Nine patients had a pregnancy after 1 to 3 ICSI treatments (group B). Ten fertile men with normal semen parameters were studied as controls (group C). Fluorescent in situ hybridization (FISH) was used for sperm nucleus cytogenetic analysis using chromosomes 8, 9, 13, 18, 21, X, and Y specific probes. Aneuploidy for each chromosome and diploidy rates were significantly higher in group A than in group B and in group B than in group C (P < .05). Considering each patient in groups A and B, aneuploidy rate for each chromosome was too variable to be considered as a significant test. We proposed analysis of the total sperm aneuploidy. Chromosomal sperm nuclei profile could be used as a predictive biological test before ICSI in order to improve genetic counseling for oligoasthenoteratozoospermia patients.

Gamete cytogenetic study in couples with implantation failure: aneuploidy rate is increased in both couple members

“…No difference was found between men with or without implantation failure (groups 2 and 3). This result differed from a previous study [19] reporting an increased spermatozoa aneuploidy rate for recurrent implantation failure patients compared with patients who received successful IVF for male indication. It should be noted that in the previous study, only ten patients were studied for each group and sperm characteristics differed, with a two fold decrease of sperm count and mobility.…”

“…Previous studies separately reported spermatozoa [19,20], polar body [4] or embryo aneuploidy rate evaluations [9,27,28]. This study is the first to deal with both spermatozoa and oocyte aneuploidy rates in couples with recurrent implantation failure.…”

“…In case of fetuses conceived after ICSI, increased aneuploidy rate has been reported [17], which particularly concerned gonosomes [18], probably due to increased sperm aneuploidy rate in infertile patients [19][20][21]. Spermatozoa morphological abnormalities, including macrocephalia [22,23], asthenospermia [24] and globozoospermia [25,26] are known to be associated with increased aneuploidy rate.…”

“…These abnormalities are regarded as a justification for preimplantation genetic screening in some countries [8,9]. Furthermore, spermatozoa aneuploidy rates were shown to be increased in recurrent implantation failure compared with controls or with patients with pregnancy obtained within three ICSI treatment attempts [19].…”

Comprehensive Genomic Study in Patients with Idiopathic Azoospermia and Oligoasthenoteratozoospermia

“…Different genomic anomalies are quite frequent in some types of infertility, leading to various spermatogenic abnormalities, and this increases the risk for the offspring and the outcome of infertility treatment (11,22). Diagnostics of the genomic and chromosome anomalies, especially microstructural aberrations, can diminuish the bad consequences, as well as the overwhelming financial and emotional costs of repeatedly unsuccessful iVF procedures (31).…”