The DOI matches its Crossref record; 17 of the 17 references it cites were found in a registry or an index.
Fluorescence in situ hybridization detects increased sperm aneuploidy in men with recurrent pregnancy loss
Open accessAbstract
Objective To investigate, in men presenting with recurrent pregnancy loss (RPL), the prevalence of sperm autosome and sex chromosome aneuploidy.Design Retrospective study.Setting Male infertility clinic.Patient(s) A total of 140 men with RPL provided semen samples, and five normozoospermic controls provided 140 semen samples for comparison. Recurrent pregnancy loss, documented in the female partners, was defined as a prior miscarriage and/or recurrent IVF/intracytoplasmic sperm injection failure.Intervention(s) Fluorescence in situ hybridization (FISH) was used to detect numerical abnormalities in sex chromosomes (X, Y) and autosomes (13, 18, 21) in ejaculated sperm.Main outcome measure(s) Sperm aneuploidy in men with RPL and normozoospermic controls.Result(s) Men with RPL had a greater percentage of sperm aneuploidy within the sex chromosomes and chromosomes 18 and 13/21 (1.04% vs. 0.38%; 0.18% vs. 0.03%; 0.26% vs. 0.08%). In total, 40% of men with normal sperm density and motility had abnormal sperm aneuploidy in all the chromosomes analyzed. Men with abnormal sperm density and motility had a higher proportion of sperm sex chromosome aneuploidy than men with normal density/motility (62% vs. 45%). Men with normal strict morphology (>4%) had lower rates of sex chromosome and sperm aneuploidy than men with abnormal strict morphology (28% vs. 57%). There was no association between sperm DNA fragmentation and sperm aneuploidy.Conclusion(s) Men with RPL have increased sperm aneuploidy compared with controls. A total of 40% of men with RPL and normal sperm density/motility had abnormal sperm aneuploidy. Men with oligoasthenozoospermia and abnormal strict morphology had a greater percentage of sperm aneuploidy compared with men with normal semen parameters.
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Citations
Cites
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Assisted reproductive technologies and the risk of birth defects—a systematic review
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“Offspring conceived by ICSI have been shown to be at increased risk for aneuploidies, in particular of the sex chromosomes (2-4).”
BackgroundMethodRimm, A. A., Katayama, A. C., Díaz, M., & Katayama, K. (2004) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-004-8760-8 · Cited by 275 · cited 2×
“Offspring conceived by ICSI have been shown to be at increased risk for aneuploidies, in particular of the sex chromosomes (2-4).”
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“Even though men with infertility have increased sperm aneuploidy (10, 11), most practical clinical genetic testing for men with infertility is currently limited to detection of chromosomal abnormalities using a karyotype and Y-chromosome microdeletion analysis (12).”
Chromosome studies in 496 infertile males with a sperm count below 10 million/ml
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“Several studies have demonstrated an increased frequency of genetic abnormalities in men with spermatogenic impairment (7-9).”
BackgroundSperm aneuploidy and meiotic sex chromosome configurations in an infertile XYY male
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“Even though men with infertility have increased sperm aneuploidy (10, 11), most practical clinical genetic testing for men with infertility is currently limited to detection of chromosomal abnormalities using a karyotype and Y-chromosome microdeletion analysis (12).”
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“Results can be standardized in our patient samples given that the proportion of aneuploidy in our control population is similar to that reported in the published literature on aneuploidy in the general population (6).”
ResultRyu, H., Lin, W. W., Lamb, D. J., Chuang, W. W., Lipshultz, L. I., & Bischoff, F. Z. (2001) · Fertility and Sterility · doi:10.1016/s0015-0282(01)02827-8 · Cited by 68 · cited 2×
“It is important to realize that sperm aneuploidy rates can be high even in men with normal sperm morphology (13).”
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Vivó, L. R. (2020) · Springer eBooks · doi:10.1007/978-3-030-37972-8_20
The fertility evaluation of the male partner
Almajed, W., & Zini, A. S. (2023) · Elsevier eBooks · doi:10.1016/b978-0-323-85687-4.00028-2
Gunes, S. O., & Garrido, N. (2024) · Springer eBooks · doi:10.1007/978-3-031-55337-0_11
Chromosomal Analysis of the Sperm
Rodrigo, L., & Campos‐Galindo, I. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-21477-6.00275-3
Guidelines on the Diagnosis and Management of Sporadic Miscarriage
Oliver, A., & Overton, C. E. (2025) · Cambridge University Press eBooks · doi:10.1017/9781009532549.015
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Chen, Y., Guo, J., Wang, J., Cai, B., Xu, Y., Zeng, Y., Gao, J., Wang, Q., Mai, Q., & Xu, Y. (2026) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-026-03804-6
Salvio, G., Zohdy, W., & Singh, K. (2026) · Cambridge University Press eBooks · doi:10.1017/9781009476072.005
Metadata
- Authors
- Ramasamy, R., Scovell, J. M., Kovac, J. R., Cook, P. J., Lamb, D. J., & Lipshultz, L. I.
- Affiliations
- Baylor College of Medicine (US)
- Corresponding author
- Lipshultz, Larry I.
- Venue
- Fertility and Sterility
- Publisher
- Elsevier BV
- Published
- 2015-04
- Volume
- 103
- Issue
- 4
- Pages
- 906-909.e1
- ISSN
- 0015-0282 (ISSN-L)
- PMC
- PMC4385482
- OpenAlex
- W1994443118
- Cited by
- 108
- References
- 16
- Citations by year
- 2026: 3 · 2025: 5 · 2024: 4 · 2023: 13 · 2022: 9 · 2021: 14 · 2020: 16 · 2019: 10 · 2018: 11 · 2017: 9 · 2016: 9 · 2015: 4
- FWCI
- 12.54
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Fertility and Sterility (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Child Health and Human Development (HD073917-01)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (K12HD073917)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Health Sciences › Medicine › Reproductive Medicine › Reproductive Health and Technologies
- Keywords
- recurrent pregnancy loss, sperm aneuploidy, male infertility, sex chromosome aneuploidy, autosomal aneuploidy, oligoasthenozoospermia, sperm morphology, sperm DNA fragmentation, IVF failure
- MeSH terms
- Abortion, Habitual, Adult, Aneuploidy, Female, Humans, Infertility, Male, Male, Pregnancy, Retrospective Studies, Spermatozoa, Case-Control Studies, In Situ Hybridization, Fluorescence, Embryo Loss, DNA Fragmentation, Semen Analysis, Young Adult
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