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Tempest, Helen G.; Homa, Sheryl T.; Dalakiouridou, Maria; Christopikou, Dimitra; Wright, David B.; Zhai, Xiao-Ping; Griffin, Darren K.

doi:10.1186/1477-7827-2-82

Cited by 35 publications

(8 citation statements)

References 36 publications

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“…The emerging sperm aneuploidy picture from studying males with different types of infertility (e.g., oligo-, astheno-, terato-, zoospermia) is that they have on average of threefold increase with a two- to tenfold higher prevalence of numerical chromosome abnormalities compared to their fertile counterparts [ 44 , 46 ]. Patients with more severe morphological abnormalities in sperm (e.g., macrocephalic-multi-flagellated sperm, globozoospermia) manifest 10–30× and 8–10× increase in aneuploidy, respectively, compared to controls [ 38 , 47 , 48 ].…”

Section: Introductionmentioning

confidence: 99%

“…Patients with more severe morphological abnormalities in sperm (e.g., macrocephalic-multi-flagellated sperm, globozoospermia) manifest 10–30× and 8–10× increase in aneuploidy, respectively, compared to controls [ 38 , 47 , 48 ]. Patients with oligoasthenoteratozoospermia (OAT) have been studied extensively using FISH probes by many groups, and an increased level (up to 30-fold) of aneuploidies (disomy, diploidy, nullisomy) has been found for all investigated chromosomes compared to their fertile counterparts [ 42 , 46 , 47 , 49 – 56 ].…”

Section: Introductionmentioning

confidence: 99%

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Impact of sperm DNA chromatin in the clinic

Ioannou

Miller

Griffin

et al. 2015

J Assist Reprod Genet

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The paternal contribution to fertilization and embryogenesis is frequently overlooked as the spermatozoon is often considered to be a silent vessel whose only function is to safely deliver the paternal genome to the maternal oocyte. In this article, we hope to demonstrate that this perception is far from the truth. Typically, infertile men have been unable to conceive naturally (or through regular IVF), and therefore, a perturbation of the genetic integrity of sperm heads in infertile males has been under-considered. The advent of intracytoplasmic sperm injection (ICSI) however has led to very successful treatment of male factor infertility and subsequent widespread use in IVF clinics worldwide. Until recently, little concern has been raised about the genetic quality of sperm in ICSI patients or the impact genetic aberrations could have on fertility and embryogenesis. This review highlights the importance of chromatin packaging in the sperm nucleus as essential for the establishment and maintenance of a viable pregnancy.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Impact of sperm DNA chromatin in the clinic

Ioannou

Miller

Griffin

et al. 2015

J Assist Reprod Genet

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“…Whereas others reported an increase in sperm aneuploidy in teratozoospermic males (Gole et al 2001, Burrello et al 2004). However, a general consensus seems to exist regarding severe teratozoospermia with large-headed and multiple-tailed spermatozoa or abnormal flagella for a higher risk of sperm aneuploidy, diploidy, and polyploidy, as reported in several studies with small number of patients included, ranging from a case report to 30 infertile men (Hristova et al 2002, Tempest et al 2004, Mateu et al 2006, Brahem et al 2012.…”

Section: Sperm Contribution To Embryo Aneuploidiesmentioning

confidence: 99%

PREIMPLANTATION GENETIC TESTING: Chromosome abnormalities in human embryos

Rubio

Rodrigo²,

Simón

2020

Reproduction

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Aneuploidy is a frequent event in human embryos, and its incidence is higher in oocytes and embryos from women of advanced maternal age. Aneuploidy may also be a contributing factor in infertile populations, such as couples with recurrent miscarriages, repetitive implantation failure, or male infertility. For these reasons, preimplantation genetic testing for aneuploidy (PGT-A) has been proposed to prevent miscarriages and increase live birth rates in infertile couples undergoing in vitro fertilization. Next generation sequencing is currently being applied for the detection of aneuploidies in human embryos, including whole chromosome aneuploidies, segmental aneuploidies, uniform, and mosaic aneuploidies. More recently, this technology has been incorporated for the analysis of the cell-free DNA secreted by the embryo to the culture media. Chromosome abnormalities mostly originate in female meiosis. Recombination between homologous chromosomes is a critical event that occurs in the foetal ovary. The importance of altered recombination pertains to paternally as well as maternally derived trisomies, but as most aneuploidy arises during oogenesis, the female is at greater risk. For males, sperm concentration is associated with higher risk of aneuploid sperm and thus aneuploid embryos. Mitosis errors can occur at all stages of early embryo development that result in chromosomally distinct cell populations. The clinical impact of mosaicism depends on the mosaicism type, location, and number of aneuploid cells. Transfer of mosaic embryos has been proposed when no euploid embryos are available in the PGT-A cycle.

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“…The exact causes of this mis-segregation are unknown, but the meiotic recombination between X and Y may play a role [63], as well as other, unidentified causes that affect multiple chromosome segregations at the same time [64]. Indeed, the meiotic recombination-dependent mis-segregation of X and Y chromosomes is a known cause of male infertility in otherwise karyotipycally normal men [65]. More generally, sperm aneuploidy of the sex chromosomes affects fertile men as well, though without impairing their ability to procreate [66].…”

Section: Disomy Of the Ymentioning

confidence: 99%

The Role of Number of Copies, Structure, Behavior and Copy Number Variations (CNV) of the Y Chromosome in Male Infertility

Signore

Gulìa

Votino

et al. 2019

Genes

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The World Health Organization (WHO) defines infertility as the inability of a sexually active, non-contracepting couple to achieve spontaneous pregnancy within one year. Statistics show that the two sexes are equally at risk. Several causes may be responsible for male infertility; however, in 30-40% of cases a diagnosis of idiopathic male infertility is made in men with normal urogenital anatomy, no history of familial fertility-related diseases and a normal panel of values as for endocrine, genetic and biochemical markers. Idiopathic male infertility may be the result of gene/environment interactions, genetic and epigenetic abnormalities. Numerical and structural anomalies of the Y chromosome represent a minor yet significant proportion and are the topic discussed in this review. We searched the PubMed database and major search engines for reports about Y-linked male infertility. We present cases of Y-linked male infertility in terms of (i) anomalies of the Y chromosome structure/number; (ii) Y chromosome misbehavior in a normal genetic background; (iii) Y chromosome copy number variations (CNVs). We discuss possible explanations of male infertility caused by mutations, lower or higher number of copies of otherwise wild type, Y-linked sequences. Despite Y chromosome structural anomalies are not a major cause of male infertility, in case of negative results and of normal DNA sequencing of the ascertained genes causing infertility and mapping on this chromosome, we recommend an analysis of the karyotype integrity in all cases of idiopathic fertility impairment, with an emphasis on the structure and number of this chromosome.

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Cited by 35 publications

References 36 publications

Impact of sperm DNA chromatin in the clinic

Impact of sperm DNA chromatin in the clinic

PREIMPLANTATION GENETIC TESTING: Chromosome abnormalities in human embryos

The Role of Number of Copies, Structure, Behavior and Copy Number Variations (CNV) of the Y Chromosome in Male Infertility

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