Research Article
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Year 2021, Volume: 5 Issue: 5, 449 - 452, 01.05.2021
https://doi.org/10.28982/josam.912521

Abstract

References

  • 1. Andersen AN, Wohlfahrt J, Christens P, Olsen J, Melbye M. Maternal age and fetal loss: Population based register linkage study. BMJ. 2000;320:1708-12.
  • 2. Bender Atik R, Christiansen OB, Elson J, Kolte AM, Lewis S, Middeldorp S, et al. ESHRE guideline: recurrent pregnancy loss. ESHRE Guideline Group on RPL, Hum Reprod Open. 2018;2018(2):hoy004.
  • 3. Rajasekhar M, Gopinath P. M, Sreelakshmi K, Satyamoorthy K. A Cytogenetic Study of Couples with Miscarriages: An Experience from Manipal Referral Centre. Int J Hum Genet. 2013;13(2):93-7.
  • 4. Ljunger E, Cnattingius S, Lundin C, Annerén G. Chromosomal anomalies in first-trimester miscarriages. Acta Obstet Gynecol Scand. 2005;84(11):1103-7.
  • 5. Elghezal H, Hidar S, Mougou S, Khairi H, Saad A. Prevalence of chromosomal abnormalities in couples with recurrent miscarriage. Fertil Steril. 2007;88:721–3.
  • 6. Flynn H, Yan J, Saravelos SH, Li TC. Comparison of reproductive outcome, including the pattern of loss, between couples with chromosomal abnormalities and those with unexplained repeated miscarriages. Journal of Obstetrics and Gynaecology Research. 2013;40(1):109-16.
  • 7. Branch DW, Gibson M, Silver RM. Recurrent miscarriage. New England Journal of Medicine. 2010;363(18):1740-7.
  • 8. Toth B, Jeschke U, Rogenhofer N, Scholz C, Würfel W, Thaler CJ, et al. Recurrent miscarriage: current concepts in diagnosis and treatment. Journal of Reproductive Immunology. 2010;85(1):25-32.
  • 9. Goud TM, Mohammed Al Harassi S, Khalfan Al Salmani K, Mohammed Al Busaidy S, Rajab A. Cytogenetic studies in couples with recurrent miscarriage in the Sultanate of Oman. Reprod Biomed Online. 2009;18(3):424-9.
  • 10. Fischer J, Colls P, Escudero T, Munné S. Preimplantation genetic diagnosis (PGD) improves pregnancy outcome for translocation carriers with a history of recurrent losses. Fertil Steril. 2010;94(1):283-9.
  • 11. Meshkat Z, Khadem Ghaebi N, Khajedaluee M, Aghili Z, Rostami S. Prevalence of chromosomal aberrations in couples with recurrent miscarriages in the city of Mashhad, Iran: a cross-sectional study. Arch Med Lab Sci. 2016;2(1).
  • 12. Franssen MT, Korevaar JC, van der Veen F, Leschot NJ, Bossuyt PM, Goddijn M. Reproductive outcome after chromosome analysis in couples with two or more miscarriages: index [corrected]-control study. BMJ. 2006;332(7544):759–63.
  • 13. Stephenson MD, Sierra S. Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of a structural chromosome rearrangement. Human Reproduction. 2006;21(4):1076-82.
  • 14. Mozdarani H, Meybodi AM, Zari-Moradi S. A cytogenetic study of couples with recurrent spontaneous abortions and infertile patients with recurrent IVF/ICSI failure. Indian Journal of Human Genetics. 2008;14(1):1.
  • 15. Campana M, Serra A, Keri G. Role of chromosome aberrations in recurrent abortion: a study of 269 balanced translocations. Am J Med Genet. 1986;24:341-65.
  • 16. Gardner RJM, Sutherland GR 1996 Chromosome abnormalities and genetic counselling. 2nd edn. Oxford University Press, New York.
  • 17. Lee KS, Lee JA, Song HH, Byun J, Ahn JS, Zang DY, et al. Solitary dural extramedullary plasmacytoma with inv (9) (p13q21). Am J Clin Oncol. 2004;27:638-9.
  • 18. Uehara S, Akai Y, Takeyama Y, Takabayashi T, Okamura K, Yajima A. Pericentric inversion of chromosome 9 in prenatal diagnosis and infertility. Tohoku Journal of Experimental Medicine. 1992;166:417–27.
  • 19. Rodriguez-Gómez MT, Martín-Sempere MJ, Abrisqueta J. C-band length variability and reproductive wastage. Human Genetics. 1987;75(1):56-61.
  • 20. Genest P. Chromosome variants and abnormalities detected in 51 married couples with repeated spontaneous abortions. Clinical Genetics. 1979;16(6):387-9.
  • 21. Nanko S, Kunugi H, Sasaki T, Fukuda R, Kawate T, Kazamatsuri H. Pericentric region of chromosome 9 is a possible candidate region for linkage study of schizophrenia. Biol Psychiatry. 1993;33:655-8.
  • 22. Mc Candless F, Jones I, Harper K, Craddock N. Intrafamilial association of pericentric inversion of chromosome 9, inv (9) (p11-q21), and rapid cycling bipolar disorder. Psychiatr Genet. 1998;8:259-62.
  • 23. Scarinci R, Anichini C, Vivarelli R, Berardi R, Pucci L, Rosaia L, et al. Correlation of the clinical phenotype with a pericentric inversion of chromosome 9. Boll Soc Ital Biol Sper. 1992;68:175-81
  • 24. Kim JW, Lee JY, Hwang JW, Hong KE. Behavioral and developmental characteristics of children with inversion of chromosome 9 in Korea: A preliminary study. Child Psychiatry Hum Dev 2005;35:347-57.
  • 25. García-Peiró A, Oliver-Bonet M, Navarro J, Abad C, Guitart M, Amengual MJ, et al. Dynamics of sperm DNA fragmentation in patients carrying structurally rearranged chromosomes. Int J Androl. 2011;34:e546–53.
  • 26. Serra A, Brahe C, Millington-Ward A, Neri G, Tedeschi B, Tassone F, et al. Pericentric inversion of chromosome 9: prevalence in 300 Down syndrome families and molecular studies of nondisjunction. Am J Med Genet Suppl. 1990;7:162-8.
  • 27. Testart J, Gautier E, Brami C, Rolet F, Sedbon E, Thebault A. Intracytoplasmic sperm injection in infertile patients with structural chromosome abnormalities. Hum Reprod. 1996; 11(12):2609-12.
  • 28. Donbak L. Consanguinity in Kahramanmaras city, turkey, and its medical impact. Saudi Med J. 2004;25(12):1991-4.
  • 29. Saad FA, Jauniaux E. Recurrent early pregnancy loss and consanguinity. Reprod Biomed Online. 2002;5(2):167-70.

Cytogenetic analysis in couples with recurrent pregnancy loss

Year 2021, Volume: 5 Issue: 5, 449 - 452, 01.05.2021
https://doi.org/10.28982/josam.912521

Abstract

Background/Aim: Recurrent pregnancy loss (RPL), described as the loss of two or more pregnancies before 24 weeks of pregnancy, remains a concern for both the couples and the clinicians. Genetic factors tend to be strongly linked to reproductive failure among different etiologies. Our goal was to determine the rates and kinds of chromosomal defects in couples who had repeated pregnancy losses and a history of miscarriage in the first trimester.
Methods: This cross sectional study was conducted at a single tertiary center over a 3-year period. Couples who visited the outpatient clinic due to recurrent pregnancy loss and underwent tests to investigate the etiology were included in the study. Ages, number of abortions and genetic results of the patients were recorded. A total of 253 pairs had been tested for karyotype. Conventional cytogenetic method was used to identify chromosomal aberrations.
Results: Of 506 cases, chromosomal abnormalities were present in 15 (2.9%). Women were more frequently affected than men, with prevalences of 1.9% and 0.98%, respectively. Eight of the 15 cases (53.3%) showed structural deviations and 2 (13.3%) had numerical abnormalities. Additionally, 5 (33.3%) individuals were found to have chromosome variants.
Conclusion: Pregnancy loss is a major adverse life event, and the recurring nature of RPL can intensify the grief experienced. Aside from routine analyses of couples on anatomical, endocrine, and infection factors, these findings suggest that cytogenetic testing is required for an accurate approach to determine the cause of recurrent miscarriages.

References

  • 1. Andersen AN, Wohlfahrt J, Christens P, Olsen J, Melbye M. Maternal age and fetal loss: Population based register linkage study. BMJ. 2000;320:1708-12.
  • 2. Bender Atik R, Christiansen OB, Elson J, Kolte AM, Lewis S, Middeldorp S, et al. ESHRE guideline: recurrent pregnancy loss. ESHRE Guideline Group on RPL, Hum Reprod Open. 2018;2018(2):hoy004.
  • 3. Rajasekhar M, Gopinath P. M, Sreelakshmi K, Satyamoorthy K. A Cytogenetic Study of Couples with Miscarriages: An Experience from Manipal Referral Centre. Int J Hum Genet. 2013;13(2):93-7.
  • 4. Ljunger E, Cnattingius S, Lundin C, Annerén G. Chromosomal anomalies in first-trimester miscarriages. Acta Obstet Gynecol Scand. 2005;84(11):1103-7.
  • 5. Elghezal H, Hidar S, Mougou S, Khairi H, Saad A. Prevalence of chromosomal abnormalities in couples with recurrent miscarriage. Fertil Steril. 2007;88:721–3.
  • 6. Flynn H, Yan J, Saravelos SH, Li TC. Comparison of reproductive outcome, including the pattern of loss, between couples with chromosomal abnormalities and those with unexplained repeated miscarriages. Journal of Obstetrics and Gynaecology Research. 2013;40(1):109-16.
  • 7. Branch DW, Gibson M, Silver RM. Recurrent miscarriage. New England Journal of Medicine. 2010;363(18):1740-7.
  • 8. Toth B, Jeschke U, Rogenhofer N, Scholz C, Würfel W, Thaler CJ, et al. Recurrent miscarriage: current concepts in diagnosis and treatment. Journal of Reproductive Immunology. 2010;85(1):25-32.
  • 9. Goud TM, Mohammed Al Harassi S, Khalfan Al Salmani K, Mohammed Al Busaidy S, Rajab A. Cytogenetic studies in couples with recurrent miscarriage in the Sultanate of Oman. Reprod Biomed Online. 2009;18(3):424-9.
  • 10. Fischer J, Colls P, Escudero T, Munné S. Preimplantation genetic diagnosis (PGD) improves pregnancy outcome for translocation carriers with a history of recurrent losses. Fertil Steril. 2010;94(1):283-9.
  • 11. Meshkat Z, Khadem Ghaebi N, Khajedaluee M, Aghili Z, Rostami S. Prevalence of chromosomal aberrations in couples with recurrent miscarriages in the city of Mashhad, Iran: a cross-sectional study. Arch Med Lab Sci. 2016;2(1).
  • 12. Franssen MT, Korevaar JC, van der Veen F, Leschot NJ, Bossuyt PM, Goddijn M. Reproductive outcome after chromosome analysis in couples with two or more miscarriages: index [corrected]-control study. BMJ. 2006;332(7544):759–63.
  • 13. Stephenson MD, Sierra S. Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of a structural chromosome rearrangement. Human Reproduction. 2006;21(4):1076-82.
  • 14. Mozdarani H, Meybodi AM, Zari-Moradi S. A cytogenetic study of couples with recurrent spontaneous abortions and infertile patients with recurrent IVF/ICSI failure. Indian Journal of Human Genetics. 2008;14(1):1.
  • 15. Campana M, Serra A, Keri G. Role of chromosome aberrations in recurrent abortion: a study of 269 balanced translocations. Am J Med Genet. 1986;24:341-65.
  • 16. Gardner RJM, Sutherland GR 1996 Chromosome abnormalities and genetic counselling. 2nd edn. Oxford University Press, New York.
  • 17. Lee KS, Lee JA, Song HH, Byun J, Ahn JS, Zang DY, et al. Solitary dural extramedullary plasmacytoma with inv (9) (p13q21). Am J Clin Oncol. 2004;27:638-9.
  • 18. Uehara S, Akai Y, Takeyama Y, Takabayashi T, Okamura K, Yajima A. Pericentric inversion of chromosome 9 in prenatal diagnosis and infertility. Tohoku Journal of Experimental Medicine. 1992;166:417–27.
  • 19. Rodriguez-Gómez MT, Martín-Sempere MJ, Abrisqueta J. C-band length variability and reproductive wastage. Human Genetics. 1987;75(1):56-61.
  • 20. Genest P. Chromosome variants and abnormalities detected in 51 married couples with repeated spontaneous abortions. Clinical Genetics. 1979;16(6):387-9.
  • 21. Nanko S, Kunugi H, Sasaki T, Fukuda R, Kawate T, Kazamatsuri H. Pericentric region of chromosome 9 is a possible candidate region for linkage study of schizophrenia. Biol Psychiatry. 1993;33:655-8.
  • 22. Mc Candless F, Jones I, Harper K, Craddock N. Intrafamilial association of pericentric inversion of chromosome 9, inv (9) (p11-q21), and rapid cycling bipolar disorder. Psychiatr Genet. 1998;8:259-62.
  • 23. Scarinci R, Anichini C, Vivarelli R, Berardi R, Pucci L, Rosaia L, et al. Correlation of the clinical phenotype with a pericentric inversion of chromosome 9. Boll Soc Ital Biol Sper. 1992;68:175-81
  • 24. Kim JW, Lee JY, Hwang JW, Hong KE. Behavioral and developmental characteristics of children with inversion of chromosome 9 in Korea: A preliminary study. Child Psychiatry Hum Dev 2005;35:347-57.
  • 25. García-Peiró A, Oliver-Bonet M, Navarro J, Abad C, Guitart M, Amengual MJ, et al. Dynamics of sperm DNA fragmentation in patients carrying structurally rearranged chromosomes. Int J Androl. 2011;34:e546–53.
  • 26. Serra A, Brahe C, Millington-Ward A, Neri G, Tedeschi B, Tassone F, et al. Pericentric inversion of chromosome 9: prevalence in 300 Down syndrome families and molecular studies of nondisjunction. Am J Med Genet Suppl. 1990;7:162-8.
  • 27. Testart J, Gautier E, Brami C, Rolet F, Sedbon E, Thebault A. Intracytoplasmic sperm injection in infertile patients with structural chromosome abnormalities. Hum Reprod. 1996; 11(12):2609-12.
  • 28. Donbak L. Consanguinity in Kahramanmaras city, turkey, and its medical impact. Saudi Med J. 2004;25(12):1991-4.
  • 29. Saad FA, Jauniaux E. Recurrent early pregnancy loss and consanguinity. Reprod Biomed Online. 2002;5(2):167-70.
There are 29 citations in total.

Details

Primary Language English
Subjects Obstetrics and Gynaecology
Journal Section Research article
Authors

Serenat Yalçın 0000-0002-6465-325X

Kuyaş Hekimler Öztürk 0000-0002-7075-8875

Halil Özbaş 0000-0002-7561-1450

Hilmi Oral 0000-0003-4544-2833

Publication Date May 1, 2021
Published in Issue Year 2021 Volume: 5 Issue: 5

Cite

APA Yalçın, S., Hekimler Öztürk, K., Özbaş, H., Oral, H. (2021). Cytogenetic analysis in couples with recurrent pregnancy loss. Journal of Surgery and Medicine, 5(5), 449-452. https://doi.org/10.28982/josam.912521
AMA Yalçın S, Hekimler Öztürk K, Özbaş H, Oral H. Cytogenetic analysis in couples with recurrent pregnancy loss. J Surg Med. May 2021;5(5):449-452. doi:10.28982/josam.912521
Chicago Yalçın, Serenat, Kuyaş Hekimler Öztürk, Halil Özbaş, and Hilmi Oral. “Cytogenetic Analysis in Couples With Recurrent Pregnancy Loss”. Journal of Surgery and Medicine 5, no. 5 (May 2021): 449-52. https://doi.org/10.28982/josam.912521.
EndNote Yalçın S, Hekimler Öztürk K, Özbaş H, Oral H (May 1, 2021) Cytogenetic analysis in couples with recurrent pregnancy loss. Journal of Surgery and Medicine 5 5 449–452.
IEEE S. Yalçın, K. Hekimler Öztürk, H. Özbaş, and H. Oral, “Cytogenetic analysis in couples with recurrent pregnancy loss”, J Surg Med, vol. 5, no. 5, pp. 449–452, 2021, doi: 10.28982/josam.912521.
ISNAD Yalçın, Serenat et al. “Cytogenetic Analysis in Couples With Recurrent Pregnancy Loss”. Journal of Surgery and Medicine 5/5 (May 2021), 449-452. https://doi.org/10.28982/josam.912521.
JAMA Yalçın S, Hekimler Öztürk K, Özbaş H, Oral H. Cytogenetic analysis in couples with recurrent pregnancy loss. J Surg Med. 2021;5:449–452.
MLA Yalçın, Serenat et al. “Cytogenetic Analysis in Couples With Recurrent Pregnancy Loss”. Journal of Surgery and Medicine, vol. 5, no. 5, 2021, pp. 449-52, doi:10.28982/josam.912521.
Vancouver Yalçın S, Hekimler Öztürk K, Özbaş H, Oral H. Cytogenetic analysis in couples with recurrent pregnancy loss. J Surg Med. 2021;5(5):449-52.