CASE REPORT
First trimester recurrent pregnancy loss due to balanced chromosomal translocations in husband: A case report
 
More details
Hide details
1
School of Dental Sciences, Universiti Sains Malaysia, Kelantan, MALAYSIA
 
2
Hospital Universiti Sains Malaysia, Health Campus, Kelantan, MALAYSIA
 
3
Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, MALAYSIA
 
 
Online publication date: 2022-12-11
 
 
Publication date: 2023-01-01
 
 
Electron J Gen Med 2023;20(1):em440
 
KEYWORDS
ABSTRACT
Early pregnancy loss in a wanted pregnancy is stressful and frustrating to any couple. It becomes even more emotionally traumatic when it occurs repeatedly. Two or more of early pregnancy loss is known as recurrent pregnancy loss (RPL). RPL is a clinical challenge for physicians to unriddle. In this case report, we illustrate a case of a 40-year-old woman who experienced six recurrent first-trimester pregnancy losses. After the third pregnancy loss, initial maternal blood investigations were done, and the results were normal. After the fifth miscarriage, both partners’ blood was tested for the cytogenetic study, and her cytogenetic analysis revealed a normal karyotype. However, the paternal showed balanced translocation 46, XY, t(6;13) (q13;14.1) with a balanced translocation between the long arm of chromosome 6 at position 6q13 and the long arm of chromosome 13 at position 13q14.1. When the initial blood investigation is considered normal, a chromosomal study is one of important etiological investigation in couples with RPL.
 
REFERENCES (10)
1.
European Society of Human Reproduction and Embryology. Guideline on the management of recurrent pregnancy loss. ESHRE Early Pregnancy Guideline Development Group. 2017. Available at: https://www.eshre.eu/Guideline... (Accessed 20 August 2022).
 
2.
Royal College of Obstetricians. Green-top guideline. No. 17. The investigation and treatment of couples with recurrent first-trimester and second-trimester miscarriage. RCOG. 2011. Available at: https://poliklinika-harni.hr/i... (Accessed 20 August 2022).
 
3.
Rull K, Nagirnaja L, Laan M. Genetics of recurrent miscarriage: Challenges, current knowledge, future directions. Front Genet. 2012;3(34):1-13. https://doi.org/10.3389/fgene.... PMid:22457663 PMCid:PMC3306920.
 
4.
Practice Committee of the American Society for Reproductive Medicine. Evaluation and treatment of recurrent pregnancy loss: A committee opinion. Fertil Steril. 2012;98(5):1103-11. https://doi.org/10.1016/j.fert... PMid:22835448.
 
5.
Sheth FJ, Liehr T, Kumari P, Akinde R, Sheth HJ, Sheth JJ. Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study. Indian J Hum Genet. 2013;19(4):415-22. https://doi.org/10.4103/0971-6... PMid:24497706 PMCid:PMC3897136.
 
6.
Jaslow CR, Carney JL, Kutteh WH. Diagnostic factors identified in 1020 women with two versus three or more recurrent pregnancy losses. Fertil Steril. 2010;93(4):1234-43. https://doi.org/10.1016/j.fert... PMid:19338986.
 
7.
Priya PK, Mishra VV, Roy P, Patel H. A study on balanced chromosomal translocations in couples with recurrent pregnancy loss. J Hum Reprod Sci. 2018;11(4):337-42. https://doi.org/10.4103/jhrs.J... PMid:30787517 PMCid:PMC6333030.
 
8.
Sudhir N, Kaur T, Beri A, Kaur A. Cytogenetic analysis in couples with recurrent miscarriages: A retrospective study from Punjab, North India. J Genet. 2016;95(4):887-94. https://doi.org/10.1007/s12041... PMid:27994187.
 
9.
Tulandi T, Al-Fozan HM. Recurrent pregnancy loss: Definition and etiology. 2022. Available at: https://www.uptodate.com/conte... (Accessed 20 August 2022).
 
10.
Ocak Z, Ozlu T, Ozyurt O. Association of recurrent pregnancy loss with chromosomal abnormalities and hereditary thrombophilias. Afr Health Sci. 2013;13(2):447-52. https://doi.org/10.4314/ahs.v1....
 
eISSN:2516-3507
Journals System - logo
Scroll to top