Abstract:BackgroundApproximately 1% of the spermatozoa found in ejaculate of healthy men are aneuploid and this rate increases in the population of subfertile and infertile men. Moreover, fertilization with these aneuploid sperm can lead to impaired embryo development. Fluorescent In Situ Hybridization (FISH) is the common cytogenetic tool used for aneuploidy screening on sperm. However, it is a time-consuming technique and cytogenetic or in vitro fertilization laboratories cannot routinely use it and face the increasi… Show more
“…To date, we and others largely agree that automated systems can reliably assess sperm aneuploidy (Netten et al 1997, Baumgartner et al 2001, Perry et al 2007, 2011, Carrell & Emery 2008, Molina et al 2009, Tempest et al 2010, Martinez et al 2013, Branch et al 2017. Some studies have reported substantial reductions in analysis time (Branch et al 2017), but it is important to consider some challenges.…”
Section: The Advantages and Disadvantages Of Fish To Assess Sperm Anementioning
confidence: 99%
“…Due to the relatively low levels of sperm aneuploidy, thousands of sperm are required to be scored, which is labor intensive. This issue is readily solvable with the advent of various automated systems that have the capability to accurately and reliably assess sperm aneuploidy (Netten et al 1997, Baumgartner et al 2001, Perry et al 2007, 2011, Carrell & Emery 2008, Molina et al 2009, Tempest et al 2010, Martinez et al 2013, Branch et al 2017. In reality, we are unable to test the individual sperm that will be used in ART; thus, it can only provide a generalized overview of the levels of aneuploidy in a semen sample.…”
Section: Why Is Sperm Aneuploidy Screening Rarely Considered In Art?mentioning
Infertility is relatively common affecting approximately 1-in-6 couples. Although the genetic basis of infertility is increasingly being uncovered, the contribution of male infertility often remains unexplained. The leading cause of pregnancy loss and cognitive impairment in humans is chromosome aneuploidy. Sperm aneuploidy is routinely evaluated by fluorescence in situ hybridization. The majority of studies have reported similar findings, namely: (1) all men produce aneuploid sperm; (2) certain chromosomes are more prone to undergo chromosome nondisjunction; (3) infertile men typically have significantly higher levels of sperm aneuploidy compared to controls and (4) the level of aneuploidy is often correlated with the severity of the infertility. Despite this, sperm aneuploidy screening is rarely evaluated in the infertility clinic. Within recent years, there appears to be renewed interest in the clinical relevance of sperm aneuploidy. We shall examine the gender differences in meiosis between the sexes and explore why less emphasis is placed on the paternal contribution to aneuploidy. Increased sperm aneuploidy is often perceived to be modest and not clinically relevant, compared to the female contribution. However, even small increases in sperm aneuploidy may impact fertility and IVF cycle outcomes. Evidence demonstrating the clinical relevance of sperm aneuploidy will be discussed, as well as some of the challenges precluding widespread clinical implementation. Technological developments that may lead to widespread clinical implementation will be discussed. Recommendations will be suggested for specific patient groups that may benefit from sperm aneuploidy screening and whether preimplantation genetic testing for aneuploidy should be discussed with these patients.
“…To date, we and others largely agree that automated systems can reliably assess sperm aneuploidy (Netten et al 1997, Baumgartner et al 2001, Perry et al 2007, 2011, Carrell & Emery 2008, Molina et al 2009, Tempest et al 2010, Martinez et al 2013, Branch et al 2017. Some studies have reported substantial reductions in analysis time (Branch et al 2017), but it is important to consider some challenges.…”
Section: The Advantages and Disadvantages Of Fish To Assess Sperm Anementioning
confidence: 99%
“…Due to the relatively low levels of sperm aneuploidy, thousands of sperm are required to be scored, which is labor intensive. This issue is readily solvable with the advent of various automated systems that have the capability to accurately and reliably assess sperm aneuploidy (Netten et al 1997, Baumgartner et al 2001, Perry et al 2007, 2011, Carrell & Emery 2008, Molina et al 2009, Tempest et al 2010, Martinez et al 2013, Branch et al 2017. In reality, we are unable to test the individual sperm that will be used in ART; thus, it can only provide a generalized overview of the levels of aneuploidy in a semen sample.…”
Section: Why Is Sperm Aneuploidy Screening Rarely Considered In Art?mentioning
Infertility is relatively common affecting approximately 1-in-6 couples. Although the genetic basis of infertility is increasingly being uncovered, the contribution of male infertility often remains unexplained. The leading cause of pregnancy loss and cognitive impairment in humans is chromosome aneuploidy. Sperm aneuploidy is routinely evaluated by fluorescence in situ hybridization. The majority of studies have reported similar findings, namely: (1) all men produce aneuploid sperm; (2) certain chromosomes are more prone to undergo chromosome nondisjunction; (3) infertile men typically have significantly higher levels of sperm aneuploidy compared to controls and (4) the level of aneuploidy is often correlated with the severity of the infertility. Despite this, sperm aneuploidy screening is rarely evaluated in the infertility clinic. Within recent years, there appears to be renewed interest in the clinical relevance of sperm aneuploidy. We shall examine the gender differences in meiosis between the sexes and explore why less emphasis is placed on the paternal contribution to aneuploidy. Increased sperm aneuploidy is often perceived to be modest and not clinically relevant, compared to the female contribution. However, even small increases in sperm aneuploidy may impact fertility and IVF cycle outcomes. Evidence demonstrating the clinical relevance of sperm aneuploidy will be discussed, as well as some of the challenges precluding widespread clinical implementation. Technological developments that may lead to widespread clinical implementation will be discussed. Recommendations will be suggested for specific patient groups that may benefit from sperm aneuploidy screening and whether preimplantation genetic testing for aneuploidy should be discussed with these patients.
“…1 and 2 ), aneuploidy can be evaluated on the same slide, at a single cell level of resolution, together with other techniques and biomarkers such as IHC and Ki-67 for an optimal evidence based evaluation of malignancy, clonality, tissue of origin and replication rate of the lesion [ 129 – 131 ]. Progress in semiautomatic sperm scoring has advanced precision in determining sperm aneuploidy rates while saving on time and operator burden [ 132 , 133 ] and is making human biomarker assessment more feasible for both cancer biology and molecular epidemiology laboratories [ 134 ]. Fig.…”
Section: Techniques Available To Assess Aneuploidy In Precancerous Anmentioning
Aneuploidy, defined as structural and numerical aberrations of chromosomes, continues to draw attention as an informative effect biomarker for carcinogens and male reproductive toxicants. It has been well documented that aneuploidy is a hallmark of cancer. Aneuploidies in oocytes and spermatozoa contribute to infertility, pregnancy loss and a number of congenital abnormalities, and sperm aneuploidy is associated with testicular cancer. It is striking that several carcinogens induce aneuploidy in somatic cells, and also adversely affect the chromosome compliment of germ cells. In this paper we review 1) the contributions of aneuploidy to cancer, infertility, and developmental abnormalities; 2) techniques for assessing aneuploidy in precancerous and malignant lesions and in sperm; and 3) the utility of aneuploidy as a biomarker for integrated chemical assessments of carcinogenicity, and reproductive and developmental toxicity.
“…To our knowledge, eight previous studies have compared manual counting of FISH hybridized sperm to automated spot counting (15)(16)(17)(18)(19)(20)(21)(22). To our knowledge, eight previous studies have compared manual counting of FISH hybridized sperm to automated spot counting (15)(16)(17)(18)(19)(20)(21)(22).…”
Section: Introductionmentioning
confidence: 99%
“…Designing reliable methods capable of accurately determining aneuploidy is important for advancing aneuploidy detection, etiologic research, and ultimately clinical application. To our knowledge, eight previous studies have compared manual counting of FISH hybridized sperm to automated spot counting (15)(16)(17)(18)(19)(20)(21)(22). These studies used wide-field epifluorescence microscopy to validate counting software such as MetaSystems or Spot AX.…”
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