Genetic counseling for men with recurrent pregnancy loss or recurrent implantation failure due to abnormal sperm chromosomal aneuploidy
- 761 Downloads
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.
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.
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.
We review the literature and discuss genetic counseling for couples with RPL or recurrent implantation failure due to increased sperm aneuploidy.
KeywordsChromosomal aneuploidy Male infertility Sperm FISH Genetic counseling Recurrent pregnancy loss
- 1.Chandra A, Martinez GM, Mosher WD, Abma JC, Jones J. Fertility, family planning, and reproductive health of U.S. women: data from the 2002 National Survey of Family Growth. Vital Health Stat. 2005;23(25):1–160.Google Scholar
- 2.Ford HB, Schust DJ. Recurrent pregnancy loss: etiology, diagnosis, and therapy. Rev Obstetrics Gynecol. 2009;2(2):76–83.Google Scholar
- 7.Pang MG, Hoegerman SF, Cuticchia AJ, Moon SY, Doncel GF, Acosta AA, et al. Detection of aneuploidy for chromosomes 4, 6, 7, 8, 9, 10, 11, 12, 13, 17, 18, 21, X and Y by fluorescence in-situ hybridization in spermatozoa from nine patients with oligoasthenoteratozoospermia undergoing intracytoplasmic sperm injection. Hum Reprod. 1999;14(5):1266–73. doi: 10.1093/humrep/14.5.1266.CrossRefPubMedGoogle Scholar
- 15.Lipshultz LI, Howards SS, Niederberger CS, editors. Infertility in the male. 4th ed. Cambridge: Cambridge University Press; 2009.Google Scholar
- 19.Keymolen K, Staessen C, Verpoest W, Liebaers I, Bonduelle M. Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles. Eur J Hum Genet. 2012;20(4):376–80. doi: 10.1038/ejhg.2011.208.CrossRefPubMedPubMedCentralGoogle Scholar
- 21.Kohn TP, Clavijo R, Ramasamy R, Hakky T, Candrashekar A, Lamb DJ, et al. Reproductive outcomes in men with karyotype abnormalities: case report and review of the literature. Can Urol Assoc J = Journal de l’Association des urologues du Canada. 2015;9(9–10):E667–70. doi: 10.5489/cuaj.2902.CrossRefPubMedGoogle Scholar
- 33.Ohlander S, Hotaling J, Kirshenbaum E, Niederberger C, Eisenberg ML. Impact of fresh versus cryopreserved testicular sperm upon intracytoplasmic sperm injection pregnancy outcomes in men with azoospermia due to spermatogenic dysfunction: a meta-analysis. Fertil Steril. 2014;101(2):344–9. doi: 10.1016/j.fertnstert.2013.10.012.CrossRefPubMedGoogle Scholar