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Cited by 65Prenatal Screening and DiagnosticsReproductive Health and TechnologiesSperm and Testicular Function

Genetic counseling for men with recurrent pregnancy loss or recurrent implantation failure due to abnormal sperm chromosomal aneuploidy

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Kohn, Taylor P., Kohn, Jaden R., Darilek, Sandra, Ramasamy, Ranjith, Lipshultz, Larry·2016·Journal of Assisted Reproduction and Genetics
DOI 10.1007/s10815-016-0702-8PMC PMC4870448
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Abstract

Purpose The purpose of this study is to review recurrent pregnancy loss (RPL) due to sperm chromosomal abnormalities and discuss the genetic counseling that is required for men with sperm chromosomal abnormalities. Method The literature was reviewed, and a genetic counselor lends her expertise as to how couples with RPL and sperm chromosomal abnormalities ought to be counseled. The review of the literature was performed using MEDLINE. Results Sperm fluorescence in situ hybridization (FISH) can be used to determine if disomy or unbalanced chromosomal translocations are present. In men with aneuploidy in sperm or who carry a chromosomal translocation, pre-implantation genetic screening (PGS) combined with in vitro fertilization (IVF) and intra-cytoplasmic sperm injection (ICSI) can increase chances of live birth. In men with abnormal sperm FISH results, the degree of increased risk of abnormal pregnancy remains unclear. Genetic counselors can provide information to couples about the risk for potential trisomies and sex chromosome aneuploidies and discuss their reproductive and testing options such as PGS, use of donor sperm, and adoption. The provision of genetic counseling also allows a couple to be educated about recommended prenatal testing since pregnancies conceived with a partner who has had abnormal sperm FISH are considered to be at increased risk for aneuploidy. Conclusion We review the literature and discuss genetic counseling for couples with RPL or recurrent implantation failure due to increased sperm aneuploidy.

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Cited by

Sorted by citations

Authors
Kohn, T. P., Kohn, J. R., Darilek, S., Ramasamy, R., & Lipshultz, L.
Affiliations
  • Baylor College of Medicine (US)
  • University of Miami (US)
Corresponding author
Lipshultz, Larry
ORCID
Venue
Journal of Assisted Reproduction and Genetics
Publisher
Springer Science and Business Media LLC
Published
2016-03-28
Volume
33
Issue
5
Pages
571-576
ISSN
  • 0740-7769 (ISSN-L)
  • 1058-0468
  • 1573-7330
DOI
10.1007/s10815-016-0702-8
PMC
PMC4870448
OpenAlex
W2327776534
Cited by
65
References
1
Citations by year
2026: 1 · 2024: 5 · 2023: 6 · 2022: 1 · 2021: 6 · 2020: 5 · 2019: 2 · 2018: 38 · 2017: 1
FWCI
2.04
Type
journal article
Language
en
Open access
Licence
www.springer.com/tdm (tdm)
Locations
  • Journal of Assisted Reproduction and Genetics (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Funders
None
Topics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
  • Health Sciences › Medicine › Reproductive Medicine › Reproductive Health and Technologies
  • Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
Keywords
recurrent pregnancy loss, recurrent implantation failure, male infertility, genetic counseling, preimplantation genetic testing for aneuploidy, chromosomal translocation, trisomy, sex chromosome aneuploidy, donor sperm, prenatal testing, intracytoplasmic sperm injection
MeSH terms
Abortion, Habitual, Aneuploidy, Genetic Counseling, Humans, Infertility, Male, Male, Men, Prenatal Diagnosis, Spermatozoa, In Situ Hybridization, Fluorescence

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