Dasar Genetik Kelainan Kromosom pada Kasus Keguguran Berulang

AHRIYA DWI AFRIANA; HARYA NAROTTAMA; EVA DIAH SETIJOWATI; HERNI SUPRAPTI; RETNO DWI WULANDARI

doi:10.30649/htmj.v23i2.654

Authors

AHRIYA DWI AFRIANA Faculty of Medicine, Wijaya Kusuma University, Surabaya
HARYA NAROTTAMA Faculty of Medicine, Wijaya Kusuma University, Surabaya
EVA DIAH SETIJOWATI Faculty of Medicine, Wijaya Kusuma University, Surabaya
HERNI SUPRAPTI Faculty of Medicine, Wijaya Kusuma University, Surabaya
RETNO DWI WULANDARI Faculty of Medicine, Wijaya Kusuma University, Surabaya

DOI:

https://doi.org/10.30649/htmj.v23i2.654

Keywords:

Keywords : recurrent pregnancy loss, chromosomal abnormalities, genetic basis, translocations, heteromorphisms

Abstract

Abstract

Recurrent miscarriage (RPL) is defined as the loss of two or more pregnancies before the 24th week of pregnancy. Various factors contribute to RPL, including genetic abnormalities such as chromosomal abnormality. This study aims to ascertain the genetic basis of RPL. This study was an observational descriptive study. Data were collected retrospectively from medical records of patients with RPL at the Medical Genetics Laboratory, Faculty of Medicine, Wijaya Kusuma University Surabaya, from 2014 to 2023. The study population consisted of patients with a history of two to three recurrent miscarriages, with the exception of patients with TORCH infection. The results showed that of the 41 patients who met the inclusion and exclusion criteria, comprise of 17 (89.4%) men and 20 (90.9%) women had normal karyotypes, while 2 (10.4%) men and 2 (9.09%) women showed abnormal karyotypes. The chromosomal abnormalities identified were reciprocal translocation between chromosome (6;13) and heteromorphism on chromosome 9. The results showed the importance of knowing the genetic basis of RPL as a basis for providing genetic counseling.

References

DAFTAR PUSTAKA

Bender Atik, R., Christiansen, O. B., Elson, J., Kolte, A. M., Lewis, S., Middeldorp, S., … Goddijn, M. (2018). ESHRE guideline: recurrent pregnancy loss. Human Reproduction Open, 2018(2), 1–12. https://doi.org/10.1093/hropen/hoy004

Eleje, G. U., Ugwu, E. O., Igbodike, E. P., Malachy, D. E., Nwankwo, E. U., Ugboaja, J. O., … Nwagha, U. I. (2023). Prevalence and associated factors of recurrent pregnancy loss in Nigeria according to different national and international criteria (ASRM/ESHRE vs. WHO/RCOG). Frontiers in Reproductive Health, 5(February), 1–11. https://doi.org/10.3389/frph.2023.1049711

Ford, Holly B, and Danny J Schust. 2009. “Recurrent Pregnancy Loss : Etiology , Diagnosis , and Therapy.” 2(2): 76–83.

Gaboon, Nagwa E.A. 2015. “Structural Chromosomal Abnormalities in Couples with Recurrent Abortion in Egypt.” Turkish Journal of Medical Sciences 45(1): 208–13.

Ghazaey, S., Keify, F., Mirzaei, F., Maleki, M., Tootian, S., Ahadian, M., & Abbaszadegan, M. R. (2015). Chromosomal analysis of couples with repeated spontaneous abortions in Northeastern Iran. International Journal of Fertility and Sterility, 9(1), 47–54.

Kocaaga, A., Kilic, H., & Gulec, S. (2022). The pattern of chromosomal abnormalities in recurrent miscarriages: a single center retrospective study. Annals of Saudi Medicine, 42(6), 385–390. https://doi.org/10.5144/0256-4947.2022.385

Morita, K., Ono, Y., Takeshita, T., Sugi, T., Fujii, T., Yamada, H., … Saito, S. (2019). Risk Factors and Outcomes of Recurrent Pregnancy Loss in Japan. Journal of Obstetrics and Gynaecology Research, 45(10), 1997–2006. https://doi.org/10.1111/jog.14083

Pal, A. K., Ambulkar, P. S., Waghmare, J. E., Wankhede, V., Shende, M. R., & Tarnekar, A. M. (2018). Chromosomal aberrations in couples with pregnancy loss: A retrospective study. Journal of Human Reproductive Sciences, 11(3), 247–253. https://doi.org/10.4103/jhrs.JHRS_124_17

Peter D. Turnpenny and Sian Ellard. (2017). Emery’s Elements of Medical Genetics. (Peter D. Turnpenny and Sian Ellard, Ed.) (15th ed.).

Rasmark Roepke, E., Matthiesen, L., Rylance, R., & Christiansen, O. B. (2017). Is the incidence of recurrent pregnancy loss increasing? A retrospective register-based study in Sweden. Acta Obstetricia et Gynecologica Scandinavica, 96(11), 1365–1372. https://doi.org/10.1111/aogs.13210

Regan, L., Rai, R., Saravelos, S., & Li, T. C. (2023). Recurrent MiscarriageGreen-top Guideline No. 17. BJOG: An International Journal of Obstetrics and Gynaecology, 130(12), e9–e39. https://doi.org/10.1111/1471-0528.17515

Singh, A., Khatuja, R., & Verma, M. (2018). Background, Epidemiology and Definition of Recurrent Pregnancy Loss. In Recurrent Pregnancy Loss (pp. 3–12). Singapore: Springer Singapore. https://doi.org/10.1007/978-981-10-7338-0_1

Soltani, N., Mirzaei, F., & Ayatollahi, H. (2021). Cytogenetic studies of 608 couples with recurrent spontaneous abortions in northeastern iran. Iranian Journal of Pathology, 16(4), 418–425.

Yildirim, M. E., Karakus, S., Kurtulgan, H. K., Baser, B., & Sezgin, I. (2019). The type and prevalence of chromosomal abnormalities in couples with recurrent first trimester abortions: A Turkish retrospective study. Journal of Gynecology Obstetrics and Human Reproduction, 48(7), 521–525. https://doi.org/10.1016/j.jogoh.2019.05.014