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Genetic Counseling in a Couple with Primary Infertility

1Faculty of Medicine, Universitas Diponegoro, Indonesia

2Center for Biomedical Research, Faculty of Medicine, Universitas Diponegoro, Indonesia

Received: 15 Oct 2022; Revised: 7 Nov 2022; Accepted: 8 Dec 2022; Available online: 30 Dec 2022; Published: 30 Dec 2022.
Open Access Copyright (c) 2022 Journal of Biomedicine and Translational Research
Creative Commons License This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.

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Background: Couples unable to conceive and bear children could feel deep disappointment, often leading to depression. Infertility is one of the main reasons couples are not able to have children. Genetic counseling role in infertility ranges from explanation about possible genetic causes of infertility, pregnancy planning, and advice for treatment. 

Case Presentation: A couple with 16 years of infertility was referred to the genetic clinic at National Diponegoro Hospital. The 42 years old female had previous history of diabetes mellitus, obesity, and had treatment of epilepsy/seizure 15 years ago with routine carbamazepine therapy for 2 years, while her 42 years old husband had active hepatitis B infection for 15 years. This couple underwent insemination program twice and once completed In Vitro Fertilization (IVF), both management bearing no successful implantation or viable pregnancy. Recently, she underwent a laparoscopy procedure, which gave new diagnosis of endometriosis and adenomyosis. Chromosomal examination and Methylenetetrahydrofolate Reductase (MTHFR) C677T and A1298C alleles analysis were done in our laboratory. Both individuals carried normal karyotypes and MTHFR analysis was homozygote wild type allele. Currently, this couple has accepted their conditions. They still want to bear a child although she is at a crucial age

Conclusion: Infertility is a challenging and comprehensive problem. As healthcare professionals, we encounter problems not only in diagnosis and management, but also psychological and emotional dilemma. Genetic counseling is needed to solve the problems and avoid patient’s psychological distress.

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Keywords: Genetic Counseling; Infertility; Chromosomal Examination; MTHFR

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  1. Resta R, Biesecker BB, Bennett RL, Blum S, Hahn SE, Strecker MN, et al. A New Definition of Genetic Counseling : National Society of Genetic Counselors ’ Task Force Report The National Society of Genetic Counselors ’ Definition Task Force : 2006;15(2)
  2. Banerjee E, Bhattacharjee K. Genetic Counselling : the biomedical bridge between molecular diagnosis and precision treatment. Egypt J Med Hum Genet. 2022;23(85)
  3. Liker K, Black L, Weil J, Bruce J, Merrell SB, Bivona S, et al. Challenges of infertility genetic counseling: Impact on counselors’ personal and professional lives. Natl Soc Genet Couns. 2019;1–15
  4. World Health Organization. International Classification of Diseases, 11 th Revision (ICD-11). Geneva: WHO; 2018
  5. Magdum M, Chowdhury AT, Begum N, Riya S. Types of Infertility and Its Risk Factors among Infertile Women : A Prospective Study in Dhaka City. J Biosci Med. 2022;10:158–68
  6. Borght M Vander, Wyns C. Fertility and infertility : Definition and epidemiology. Clin Biochem. 2018;62:2–10
  7. Sominsky L, Hodgson DM, Mclaughlin EA, Smith R, Wall HM, Spencer SJ. Linking Stress and Infertility : A Novel Role for Ghrelin. Endocr Rev. 2017;38:432–67
  8. Kementrian Kesehatan Republik Indonesia. Riset Kesehatan Dasar 2013. Indonesia: Kemenkes RI; 2013
  9. Chandra A, Copeng CE, Stephen E. Infertility and Impaired Fecundity in the United States , 1982 – 2010 : Data From the National Survey of. Natl Health Stat Report. 2013;(67)
  10. Anwar S, Anwar A. Infertility : A Review on Causes , Treatment and Management. Women’s Heal Gynecol. 2016;2(6)
  11. Pla-victori J. The role of genetic counseling in the infertile patient. García-Velasco JA, Seli E, editors. Human Reproductive Genetics: Emerging Technologies and Clinical Applications. Academic Press; 2020. 295–316 p
  12. Doyle M, Carballedo A. Infertility and mental health. Adv Psychiatr Treat. 2014;20:297–303
  13. Wu H, Zhu P, Geng X, Liu Z, Cui L. Genetic polymorphism of MTHFR C677T with preterm birth and low birth weight susceptibility : a meta-analysis. Arch Gynecol Obstet. 2017;0(0):0
  14. Chen ZJ, Liu JY, Huang HF, Qiao J, Zhou CQ, Huang GN, et al. Diagnostic Guidelines for Infertility. Reprod Dev Med. 2020;4(1):11–7
  15. Yahaya TO, Oladele EO, Anyebe D, Obi C, Bunza MDA, Sulaiman R, et al. Chromosomal abnormalities predisposing to infertility , testing , and management : a narrative review. Bull Natl Res Cent. 2021;45(65)
  16. Inoue T, Tanaka Y. Hepatitis B virus and its sexually transmitted infection – an update. Microb Cell. 2016;3(9):420–37
  17. Bartholomew ML. Management of Hepatitis B Infection in Pregnancy. Clin Obstet Gynecol. 2017;00(00)
  18. Teixeira TA, Oliveira YC, Bernardes FS, Kallas EG, Duarte-neto AN, Esteves SC, et al. Viral infections and implications for male reproductive health. Asian J Androl. 2021;23:335–47
  19. Su F, Ph D, Chang S, Sung F, Ph D. Hepatitis B virus infection and the risk of male infertility : a population-based analysis. Am Soc Reprod Med. 2014;102(6):1677–84
  20. Grieger JA, Grzeskowiak LE, Smithers LG, Bianco-miotto T, Leemaqz SY. Metabolic syndrome and time to pregnancy : a retrospective study of nulliparous women. BJOG An Int J Obstet Gynaecol. 2019;126:852–62
  21. Dağ ZÖ, Dilbaz B. Impact of obesity on infertility in women. Turkish Ger Gynecol Assoc. 2015;16:111–7
  22. Awlaqi A Al, Alkhayat K, Hammadeh ME. Metabolic Syndrome and Infertility in Women. Int J Women’s Heal Reprod Sci. 2016;4(3):89–95
  23. Tobias DK, Gaskins AJ, Missmer SA, Hu FB, Manson JE, Louis GMB, et al. History of infertility and risk of type 2 diabetes mellitus : a prospective cohort study. Diabetologia. 2015;58:707–15
  24. Markoula S, Siarava E, Keramida A, Dimitrios C, Zikopoulos A, Kyritsis AP, et al. Reproductive health in patients with epilepsy. Epilepsy Behav. 2020;113(107563)
  25. Alsfouk BA, Rashed M, Alsfouk AA, Alageel S, Alsemari A. Antiseizure medications use during pregnancy and congenital malformations : A retrospective study in Saudi Arabia. Saudi Pharm J. 2021;29(9):939–45
  26. Khan KN, Fujishita A, Mori T. Pathogenesis of Human Adenomyosis : Current Understanding and Its Association with Infertility. J Clin Med. 2022;11(4057)
  27. Ribeiro P, França DC, Carolina A, Lontra P, Fernandes PD. Endometriosis : A Disease with Few Direct Treatment Options. Molecules. 2022;27(4034)
  28. Pedachenko N, Anagnostis P, Shemelko T, Alabbas L. Serum anti-Mullerian hormone , prolactin and estradiol concentrations in infertile women with endometriosis. Gynecol Endocrinol. 2020;
  29. Sharma S, Bathwal S, Agarwal N, Chattopadhyay R, Saha I, Chakravarty B. Does presence of adenomyosis affect reproductive outcome in IVF cycles? A retrospective analysis of 973 patients. Reprod Biomed Online. 2019;38(1):13–21
  30. Do SDS, Greene NH, Esakoff TF. Pregnancy outcomes in very advanced maternal age women. Am J Obstet Gynecol MFM. 2022;4(100491)
  31. Meta-análise U. Advanced Maternal Age : Adverse Outcomes of Pregnancy , A Meta-Analysis. Acta Med Port. 2019;32(3):219–26
  32. Brandt JS, Rosen T, Ashkinadze E. Advanced paternal age, infertility, and reproductive risks : A review of the literature. Prenat Diagn. 2019;1–7
  33. Wasielak-politowska M, Kordowitzki P. Chromosome Segregation in the Oocyte : What Goes Wrong during Aging. Int J Mol. 2022;23(2880)
  34. Cirillo M, Coccia ME, Attanasio M, Fatini C. Homocysteine, vitamin B status and MTHFR polymorphism in Italian infertile women. Eur J Obstet Gynecol Reprod Biol. 2021;263:72–8

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