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Journal of Assisted Reproduction and Genetics

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28.03.2016 | Genetics

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

verfasst von: Taylor P. Kohn, Jaden R. Kohn, Sandra Darilek, Ranjith Ramasamy, Larry Lipshultz

Erschienen in: Journal of Assisted Reproduction and Genetics | Ausgabe 5/2016

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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.

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.

Ford HB, Schust DJ. Recurrent pregnancy loss: etiology, diagnosis, and therapy. Rev Obstetrics Gynecol. 2009;2(2):76–83.

Medicine PCotASfR. Definitions of infertility and recurrent pregnancy loss: a committee opinion. Fertil Steril. 2013;99(1):63. doi:10.1016/j.fertnstert.2012.09.023.CrossRef

Burrello N, Vicari E, Shin P, Agarwal A, De Palma A, Grazioso C, et al. Lower sperm aneuploidy frequency is associated with high pregnancy rates in ICSI programmes. Hum Reprod. 2003;18(7):1371–6.CrossRefPubMed

Hwang K, Weedin JW, Lamb DJ. The use of fluorescent in situ hybridization in male infertility. Ther Adv Urol. 2010;2(4):157–69. doi:10.1177/1756287210373758.CrossRefPubMedPubMedCentral

Nicopoullos JDM, Gilling-Smith C, Almeida PA, Homa S, Nice L, Tempest H, et al. The role of sperm aneuploidy as a predictor of the success of intracytoplasmic sperm injection? Hum Reprod. 2008;23(2):240–50. doi:10.1093/humrep/dem395.CrossRefPubMed

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.CrossRefPubMed

Rubio C, Gil-Salom M, Simón C, Vidal F, Rodrigo L, Mínguez Y, et al. Incidence of sperm chromosomal abnormalities in a risk population: relationship with sperm quality and ICSI outcome. Hum Reprod. 2001;16(10):2084–92.CrossRefPubMed

Ramasamy R, Besada S, Lamb DJ. Fluorescent in situ hybridization of human sperm: diagnostics, indications, and therapeutic implications. Fertil Steril. 2014;102(6):1534–9. doi:10.1016/j.fertnstert.2014.09.013.CrossRefPubMedPubMedCentral

10.

Collodel G, Giannerini V, Antonio Pascarelli N, Federico MG, Comodo F, Moretti E. TEM and FISH studies in sperm from men of couples with recurrent pregnancy loss. Andrologia. 2009;41(6):352–60. doi:10.1111/j.1439-0272.2009.00936.x.CrossRefPubMed

11.

Vidal F, Blanco J, Egozcue J. Chromosomal abnormalities in sperm. Mol Cell Endocrinol. 2001;183(Supplement 1):S51–S4. doi:10.1016/S0303-7207(01)00579-2.CrossRefPubMed

12.

Hwang K, Lipshultz LI, Lamb DJ. Use of diagnostic testing to detect infertility. Curr Urol Rep. 2011;12(1):68–76. doi:10.1007/s11934-010-0154-0.CrossRefPubMedPubMedCentral

13.

Ramasamy R, Scovell JM, Kovac JR, Cook PJ, Lamb DJ, Lipshultz LI. Fluorescence in situ hybridization detects increased sperm aneuploidy in men with recurrent pregnancy loss. Fertil Steril. 2015;103(4):906–9.e1. doi:10.1016/j.fertnstert.2015.01.029.CrossRefPubMedPubMedCentral

14.

Bonduelle M, Van Assche E, Joris H, Keymolen K, Devroey P, Van Steirteghem A, et al. Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters. Hum Reprod. 2002;17(10):2600–14.CrossRefPubMed

15.

Lipshultz LI, Howards SS, Niederberger CS, editors. Infertility in the male. 4th ed. Cambridge: Cambridge University Press; 2009.

16.

Practice Committee of the American Society for Reproductive M. Evaluation and treatment of recurrent pregnancy loss: a committee opinion. Fertil Steril. 2012;98(5):1103–11. doi:10.1016/j.fertnstert.2012.06.048.CrossRef

17.

Stephenson MD, Awartani KA, Robinson WP. Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case-control study. Hum Reprod. 2002;17(2):446–51.CrossRefPubMed

18.

Stern C, Pertile M, Norris H, Hale L, Baker HW. Chromosome translocations in couples with in-vitro fertilization implantation failure. Hum Reprod. 1999;14(8):2097–101.CrossRefPubMed

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.CrossRefPubMedPubMedCentral

20.

Munné S, Sandalinas M, Escudero T, Fung J, Gianaroli L, Cohen J. Outcome of preimplantation genetic diagnosis of translocations. Fertil Steril. 2000;73(6):1209–18.CrossRefPubMed

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.CrossRefPubMed

22.

Rubio C, Buendía P, Rodrigo L, Mercader A, Mateu E, Peinado V, et al. Prognostic factors for preimplantation genetic screening in repeated pregnancy loss. Reprod Biomed Online. 2009;18(5):687–93.CrossRefPubMed

23.

Pastuszak AW, Lamb DJ. The genetics of male fertility—from basic science to clinical evaluation. J Androl. 2012;33(6):1075–84. doi:10.2164/jandrol.112.017103.CrossRefPubMed

24.

Baarends WM, van der Laan R, Grootegoed JA. DNA repair mechanisms and gametogenesis. Reproduction. 2001;121(1):31–9.CrossRefPubMed

25.

Egozcue J, Sarrate Z, Codina-Pascual M, Egozcue S, Oliver-Bonet M, Blanco J, et al. Meiotic abnormalities in infertile males. Cytogenet Genome Res. 2005;111(3-4):337–42. doi:10.1159/000086907.CrossRefPubMed

26.

Martin RH. Meiotic chromosome abnormalities in human spermatogenesis. Reprod Toxicol. 2006;22(2):142–7. doi:10.1016/j.reprotox.2006.03.013.CrossRefPubMed

27.

Mroz K, Hassold TJ, Hunt PA. Meiotic aneuploidy in the XXY mouse: evidence that a compromised testicular environment increases the incidence of meiotic errors. Hum Reprod. 1999;14(5):1151–6.CrossRefPubMed

28.

Sarrate Z, Blanco J, Anton E, Egozcue S, Egozcue J, Vidal F. FISH studies of chromosome abnormalities in germ cells and its relevance in reproductive counseling. Asian J Androl. 2005;7(3):227–36. doi:10.1111/j.1745-7262.2005.00061.x.CrossRefPubMed

29.

Walschaerts M, Bujan L, Parinaud J, Mieusset R, Thonneau P. Treatment discontinuation in couples consulting for male infertility after failing to conceive. Fertil Steril. 2013;99(5):1319–23. doi:10.1016/j.fertnstert.2012.11.035.CrossRefPubMed

30.

De Domenico R, Faraci M, Hyseni E, Di Prima FAF, Valenti O, Monte S, et al. Increased nuchal translucency in normal karyotype fetuses. J Prenat Med. 2011;5(2):23–6.PubMedPubMedCentral

31.

American College of O, Gynecologists. ACOG practice bulletin no. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol. 2007;110(6):1459–67. doi:10.1097/01.AOG.0000291570.63450.44.CrossRef

32.

American College of O, Gynecologists Committee on G. Committee opinion no. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol. 2013;122(6):1374–7. doi:10.1097/01.AOG.0000438962.16108.d1.CrossRef

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.CrossRefPubMed

34.

Practice Committee of the American Society for Reproductive M. Preimplantation genetic testing: a practice committee opinion. Fertil Steril. 2008;90(5 Suppl):S136–43. doi:10.1016/j.fertnstert.2008.08.062.

Titel: Genetic counseling for men with recurrent pregnancy loss or recurrent implantation failure due to abnormal sperm chromosomal aneuploidy
verfasst von: Taylor P. Kohn
Jaden R. Kohn
Sandra Darilek
Ranjith Ramasamy
Larry Lipshultz
Publikationsdatum: 28.03.2016
Verlag: Springer US
Erschienen in: Journal of Assisted Reproduction and Genetics / Ausgabe 5/2016
Print ISSN: 1058-0468
Elektronische ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-016-0702-8

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

Abstract

Purpose

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Results

Conclusion

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Abstract

Purpose

Method

Results

Conclusion

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