Frequency of aneuploidy in sperm from patients with extremely severe male factor infertility

Gianaroli, Luca; Magli, Maria Cristina; Cavallini, Giorgio; Crippa, Andor; Nadalini, Marco; Bernardini, Luca; Fabris, G.; Voliani, S.; Ferraretti, Anna Pia

doi:10.1093/humrep/dei033

Cited by 99 publications

(60 citation statements)

References 42 publications

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“…Cryptozoospermia [30] and macrocephalia [31] have previously been associated with a high risk of spermatozoa aneuploidy. Since France does not allow preimplantation genetic screening of embryos for this indication, it is only possible to offer prenatal diagnosis to assess fetal aneuploidy.…”

Section: Discussionmentioning

confidence: 99%

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

Vialard

Hammoud

Molina-Gomès

et al. 2008

J Assist Reprod Genet

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Purpose Implantation failure is known to be associated with an increased risk of aneuploidy in embryos, a situation leading to a pre-implantation genetic screening, not allowed in different countries like France. Our aim was to evaluate the gamete aneuploidy incidence in this context, using first polar body and spermatozoa aneuploidy screening. Methods Three groups were considered: 11 couples with pregnancy obtained after IVF for female infertility (group 1); 20 couples with pregnancy obtained after IVF for male infertility (group 2); and 35 couples with implantation failure (group 3). In group 3, 28 couples treated by ICSI volunteered for first polar body analysis (PB1). Results Spermatozoa aneuploidy rate was increased in groups 2 (1.6%) and 3 (2.1%) in comparison to group 1 (0.6%). PB1 aneuploidy rate was 35.4% in group 3. Finally, eight couples (32%) had no particular chromosomal risk in gametes, 15/25 (60%) presented an increased spermatic (>2%) or oocyte (>1/3) aneuploidy rate, and 2/25 (8%) had both. Conclusion Those results confirm that implantation failure has a heterogeneous origin, that gamete chromosome abnormality rate is one of the major contributing factors, and that 1st Polar body and spermatozoa aneuploidy screening or pre-implantation genetics screening may be indicated for these couples.

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Section: Discussionmentioning

confidence: 99%

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

Vialard

Hammoud

Molina-Gomès

et al. 2008

J Assist Reprod Genet

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“…Patients with recurrent implantation failure, 63,64 severe male factor infertility, 65,66 and chromosomal translocations 67 have a higher incidence of aneuploidy and, therefore, could theoretically benefit from the use of PGS. Unfortunately, once again, data are either limited or controversial, and no general conclusions can be made about the use of PGS in these patients.…”

Section: Preimplantation Genetic Diagnosis and Screeningmentioning

confidence: 99%

Advances and Controversies in Assisted Reproductive Technology

Vela

Luna

Sandler

et al. 2009

Mount Sinai J Medicine

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As the incidence and awareness of infertility have increased in the last decades, reproductive endocrinologists and scientists have striven to improve the therapeutic options being offered to patients. One of the most advanced and efficient technologies currently being offered is assisted reproductive technology. Among the various techniques that are comprised by assisted reproductive technology, in vitro fertilization is the most widely studied and used, being responsible for approximately 1% of all live births in the United States. As this technology has evolved, many controversies have arisen, and it is the purpose of this article to review what in the authors' opinion are the most current and controversial aspects of the whole process of in vitro fertilization and its related techniques. Mt Sinai J Med 76:506‐520, 2009. © 2009 Mount Sinai School of Medicine

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“…Multicolour FISH was used in a twostep protocol to detect chromosomes X, Y, 13, 15, 16, 17, 18, 21 and 22 in each sperm cell as previously indicated. 15 The probe mixture used in the first round contained the probes specific for chromosomes 13, 16, 18, 21 and 22. A second round followed, with probes specific for chromosomes X, Y, 15 and 17 (Multivysion PB panel from Vysis; Vysis Inc., Downers Grove, IL, USA).…”

Section: Male Partner Variablesmentioning

confidence: 99%

“…The sperm were scored according to the three criteria previously described: (i) the sperm were diagnosed as abnormal if they presented two or more fluorescent signals with a size and intensity similar to the size and intensity of the same chromosome detected in normal nuclei; diploidy was defined by the presence of two signals for each of the chromosomes studied in the presence of the sperm tail and an oval head shape; the sperm were defined as nullisomic when no fluorescent signals appeared; (ii) all signals were separated from each other by at least a single domain; and (iii) overlapping spermatozoa or sperm heads without a well-defined boundary were not evaluated. 15 At present, the identification of a normal threshold or normal range of variation for the percentage of aneuploid sperm is regarded as impossible, because notable differences exist among laboratories. 13 Thus, data related to aneuploidy in all severe OAT patients included in the study were considered.…”

Section: Male Partner Variablesmentioning

confidence: 99%

Reduction in sperm aneuploidy levels in severe oligoasthenoteratospermic patients after medical therapy: a preliminary report

Cavallini¹,

Magli²,

Crippa³

et al. 2012

Asian J Androl

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The objective of this study was to investigate whether medical therapy can reduce sperm aneuploidy levels and improve the results of intracytoplasmic sperm injection (ICSI) in patients with severe idiopathic oligoasthenoteratospermia (OAT). Thirty-three infertile couples requiring ICSI because of severe idiopathic OAT after at least one unsuccessful ICSI cycle were considered. Semen parameters (concentration, motility and morphology), the percentage of aneuploid sperm and the results of ICSI (the number of oocytes fertilized, embryos transferred, biochemical pregnancies, clinical pregnancies and live births) were compared before and after a 3-month course of treatment with L-carnitine 1 g given twice per day1acetyl-L-carnitine 500 mg given twice per day1one 30-mg cinnoxicam tablet every 4 days. Aneuploidy was assessed using fluorescent in situ hybridisation (FISH) performed on chromosomes X, Y, 13, 15, 16, 17, 18, 21 and 22. The results showed that 22 of the 33 patients had a reduced frequency of aneuploid sperm and improved sperm morphology after treatment (group 1), and 11 showed no change (group 2). The numbers of biochemical pregnancies, clinical pregnancies and live births were significantly higher in group 1 than in group 2. No significant difference was found between the groups regarding the numbers of oocytes fertilized and embryos transferred. The side effects were negligible. The numbers of ICSI pregnancies and live births in severe idiopathic OAT patients improved with a course of L-carnitine, acetyl-L-carnitine and cinnoxicam.

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Frequency of aneuploidy in sperm from patients with extremely severe male factor infertility

Cited by 99 publications

References 42 publications

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

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

Advances and Controversies in Assisted Reproductive Technology

Reduction in sperm aneuploidy levels in severe oligoasthenoteratospermic patients after medical therapy: a preliminary report

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