Elevated Sperm Chromosome Aneuploidy and Apoptosis in Patients With Unexplained Recurrent Pregnancy Loss

Carrell, Douglas T.; Wilcox, Aaron L.; Lowy, Leasa; Peterson, C. Matthew; Jones, Kirtly Parker; Erickson, Lisa; Campbell, Berry; Branch, D. Ware; Hatasaka, Harry H.

doi:10.1097/00006250-200306000-00016

Cited by 42 publications

(49 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Although errors of nondisjunction occur to a lesser extent in sperm than in oocytes, paternal errors are responsible for the majority of cases of the sex chromosome trisomies XXY and XYY (Chamley et al 1993;Hawley et al 1994 (Rubio et al 2001). A 2003 case control study that examined the presence of sperm chromosomal aneuploidy and apoptosis in couples with unexplained RPL also showed a significantly increased mean aneuploidy rate in this group compared with the control groups (Carrell et al 2003).…”

Section: Fetal Aneuploidy In Sporadic and Recurrent Pregnancy Lossmentioning

confidence: 94%

Genetic Considerations in Recurrent Pregnancy Loss

Hyde

Schust

2015

Cold Spring Harbor Perspectives in Medicine

119

View full text Add to dashboard Cite

Section: Fetal Aneuploidy In Sporadic and Recurrent Pregnancy Lossmentioning

confidence: 94%

Genetic Considerations in Recurrent Pregnancy Loss

Hyde

Schust

2015

Cold Spring Harbor Perspectives in Medicine

119

View full text Add to dashboard Cite

“…These include: (i) Klinefelter syndrome patients; (ii) patients with cytogenetically visible structural chromosome aberrations; (iii) NOA patients (should enough sperm be available for treatment and screening); (iv) oligoasthenoteratozoospermic patients; (v) patients with a history of unexplained recurrent pregnancy loss or repeated in vitro fertilization or intracytoplamic sperm injection failure; and (vi) patients with very high levels macrocephalic, multinucleated and multiflagellate sperm. 21,[80][81][82][83] Performing routine sperm aneuploidy screening in these patients will enable a more individualized risk assessment of aneuploid offspring. For example, the genetic counseling of a patient with low levels of sperm aneuploidy (comparable to fertile controls) will be very different to that of an individual with 40% aneuploid sperm.…”

Section: Issues Associated With Identifying Mutations In Human Meiotimentioning

confidence: 99%

Meiotic recombination and male infertility: from basic science to clinical reality?

Hann¹,

Lau²,

Tempest³

2011

Asian J Androl

View full text Add to dashboard Cite

Infertility is a common problem that affects approximately 15% of the population. Although many advances have been made in the treatment of infertility, the molecular and genetic causes of male infertility remain largely elusive. This review will present a summary of our current knowledge on the genetic origin of male infertility and the key events of male meiosis. It focuses on chromosome synapsis and meiotic recombination and the problems that arise when errors in these processes occur, specifically meiotic arrest and chromosome aneuploidy, the leading cause of pregnancy loss in humans. In addition, meiosis-specific candidate genes will be discussed, including a discussion on why we have been largely unsuccessful at identifying disease-causing mutations in infertile men. Finally clinical applications of sperm aneuploidy screening will be touched upon along with future prospective clinical tests to better characterize male infertility in a move towards personalized medicine.

show abstract

“…Because of its clinical benefit there has been an increase in the use of sperm DNA integrity tests in the evaluation of infertile men. Till date few studies have evaluated the role of sperm DFI in iRPL cases following spontaneous conception [3,11,21]. Analysis of DNA integrity in understanding the role of sperm factor in iRPL may reduce the number of cases diagnosed as idiopathic and aid in providing most adapted therapeutics to the couple.…”

Section: Introductionmentioning

confidence: 99%

Predictive value of DNA integrity analysis in idiopathic recurrent pregnancy loss following spontaneous conception

Kumar

Deka

Singh

et al. 2012

J Assist Reprod Genet

View full text Add to dashboard Cite

Purpose Standard semen parameters are poor predictors of fertility potential. To date, apart from, paternal karyotyping sperm factors are not evaluated in recurrent pregnancy loss (RPL), only recent studies have emphasized the role of sperm factors in early embryonic development as sperm transcribes genes critical for early embryonic development. Sperm DNA integrity is useful diagnostic and prognostic marker and has clinical implications in idiopathic recurrent pregnancy loss (iRPL) following spontaneous conception. The aim of this study was to assess DNA integrity in cases experiencing iRPL following spontaneous conception. Methods Semen samples from 45 patients and 20 controls were analyzed as per WHO 1999 guidelines and sperm chromatin structure assay (SCSA) was used to measure DNA fragmentation index (DFI). Results By applying receiver operating curve (ROC) analysis, sperm DFI of approximately 26 % was found in male partner of couples experiencing iRPL. Conclusions Our data indicate that sperm from men with a history of iRPL have a higher percentage of DNA damage as compared to control group, and this can explain pregnancy loss in these patients. Men with higher DFI are infertile whereas men with lower DFI (26 %) are able to conceive but experience recurrent pregnancy loss. Thus it is important to evaluate sperm DFI in couples experiencing iRPL to understand exact aetiology of RPL and determine prognosis and management.

show abstract

Elevated Sperm Chromosome Aneuploidy and Apoptosis in Patients With Unexplained Recurrent Pregnancy Loss

Cited by 42 publications

References 34 publications

Genetic Considerations in Recurrent Pregnancy Loss

Genetic Considerations in Recurrent Pregnancy Loss

Meiotic recombination and male infertility: from basic science to clinical reality?

Predictive value of DNA integrity analysis in idiopathic recurrent pregnancy loss following spontaneous conception

Contact Info

Product

Resources

About