Genetic Evaluation of Thrombophilia Panel in Recurrent Miscarriage at Karami Hospital of Karaj
DOI:
https://doi.org/10.61841/6zwzmz67Keywords:
Gene Mutation, Thrombophilia Panel, Recurrent Miscarriage, PAI-1 Homozygous Gene, MTHFR PolymorphismAbstract
Molecular evaluation of thrombophilia panel is one of the practical evaluations in recurrent miscarriage. Clotting and disruption in the uterine placental circulatory system result in miscarriage, intrauterine growth retardation, and preeclampsia. In the Iranian population, it is possible to identify new genetic disorders due to the high rate of kinship marriages and different gene storage. The present study was conducted with the aim of investigating the new mutations in the thrombophilia panel related to recurrent miscarriage. This is a case-control study. The research population consisted of the patients with recurrent miscarriage referred to Kamali Hospital in Karaj. A total of 100 women with recurrent miscarriage (at least 2 miscarriages) and 100 women with at least one successful pregnancy (more than 2 miscarriages) were selected through the convenience sampling method. DNA amplification was performed by PCR. Mutation analysis was performed using Chromes software, and then it was analyzed by SPSS software. In the case group, 10 patients (10%) with the PAI-1 homozygous gene (G/4G4) and, in the control group, 2 patients (2%) with the PAI-1 homozygous gene (G/4G4) were identified, and this difference was statistically significant. Moreover, 20 patients (20%) in the case group and 3 patients (3%) in the control group were positive in terms of MTHFR gene polymorphism, with the difference between the two groups being statistically significant. The results of this study revealed that the presence of the homozygous PAI-1 gene and the MTHFR polymorphism gene increases the risk of recurrent miscarriage. Thus, thrombophilia panel screening is recommended in patients with recurrent miscarriage.
Downloads
References
[1] Von Eye Corleta HJF, sterility. It is time to respect the American Society for Reproductive Medicine
definition of recurrent pregnancy loss. 2010; 94(4):e61.
[2] McNamee K, Dawood F, Farquharson RGJBp, obstetrics rC, gynaecology. Thrombophilia and early
pregnancy loss. 2012; 26(1):91-102.
[3] Abramson J, Stagnaro-Green AJT. Thyroid antibodies and fetal loss: an evolving story. 2001; 11(1):57-63.
[4] Obstetricians ACo, gynecology GJIjo, gynecology otoootIFo, obstetrics. ACOG practice bulletin.
Management of recurrent pregnancy loss. Number 24, February 2001. (Replaces Technical Bulletin
Number 2 ,12September 1995). American College of Obstetricians and Gynecologists. 2002; 78(2):179.
[5] Otani T, Roche M, Mizuike M, Colls P, Escudero T, Munné SJRbo. Preimplantation genetic diagnosis
significantly improves the pregnancy outcome of translocation carriers with a history of recurrent
miscarriage and unsuccessful pregnancies. 2006; 13(6):869-74.
[6] Sermon K, Van Steirteghem A, Liebaers IJTL. Preimplantation genetic diagnosis. 2004; 363(9421):1633-
41.
[7] Ahangari N, Doosti M, Mousavifar N, Attaran M, Shahrokhzadeh S, Memarpour S, et al. Hereditary
thrombophilia genetic variants in recurrent pregnancy loss. Archives of gynecology and obstetrics.
2019; 300(3): 777-82.
[8] Ocak Z, Özlü T, Ozyurt OJAhs. Association of recurrent pregnancy loss with chromosomal abnormalities
and hereditary thrombophilias. 2013; 13(2):447-52.
[9] Karata S, Aydin Y, Ocer F, Buyru A, Balci H. Hereditary thrombophilia, anti-beta2 glycoprotein 1 IgM,
and anti-annexin V antibodies in recurrent pregnancy loss. American journal of reproductive immunology
(New York, NY: 1989). 2012; 67(3):251-5.
[10] Lund M, Nielsen H, Hviid T, Steffensen R, Nyboe Andersen A, Christiansen OJHr. Hereditary
thrombophilia and recurrent pregnancy loss: a retrospective cohort study of pregnancy outcome and
obstetric complications. 2010; 25(12):2978-84.
[11] Vossen C, Preston F, Conard J, Fontcuberta J, Makris M, Van Der Meer F, et al. Hereditary thrombophilia
and fetal loss: a prospective follow‐up study. 2004; 2(4):592-6.
[12] Kovalevsky G, Gracia CR, Berlin JA, Sammel MD, Barnhart KT. Evaluation of the association between
hereditary thrombophilias and recurrent pregnancy loss: a meta-analysis. Archives of internal medicine.
2004; 164(5):558-63.
[13] Khalegh Parast, A, Morovati, S. Association of G / 5G4 polymorphism in PAI-1 gene promoter with
recurrent miscarriage syndrome. 2012; 9.
[14] Guan LX, Du XY, Wang JX, Gao L, Wang RL, Li HB, et al. [Association of genetic polymorphisms in
plasminogen activator inhibitor-1 gene and-5,10 methylenetetrahydrofolate reductase gene with recurrent
early spontaneous abortion]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi =
Chinese Journal of Medical Genetics. 2005; 22(3):330-3.
[15] Magdoud K, Herbepin VG, Touraine R, Almawi WY, Mahjoub T. Plasminogen activator inhibitor 1 4G/5G
and -844G/A variants in idiopathic recurrent pregnancy loss. American journal of reproductive immunology
(New York, NY: 1989). 2013; 70(3):246-52.
[16] Zhang Y, He X, Xiong X, Chuan J, Zhong L, Chen G, et al. The association between maternal
methylenetetrahydrofolate reductase C677T and A1298C polymorphism and birth defects and adverse
pregnancy outcomes. Prenatal diagnosis. 2019; 39(1):3-9.
[17] Xu Y, Ban Y, Ran L, Yu Y, Zhai S, Sun Z, et al. Relationship between unexplained recurrent pregnancy
loss and 5,10-methylenetetrahydrofolate reductase) polymorphisms. Fertility and sterility. 2019;
111(3):597-603.
Downloads
Published
Issue
Section
License
Copyright (c) 2020 AUTHOR

This work is licensed under a Creative Commons Attribution 4.0 International License.
You are free to:
- Share — copy and redistribute the material in any medium or format for any purpose, even commercially.
- Adapt — remix, transform, and build upon the material for any purpose, even commercially.
- The licensor cannot revoke these freedoms as long as you follow the license terms.
Under the following terms:
- Attribution — You must give appropriate credit , provide a link to the license, and indicate if changes were made . You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.
- No additional restrictions — You may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.
Notices:
You do not have to comply with the license for elements of the material in the public domain or where your use is permitted by an applicable exception or limitation .
No warranties are given. The license may not give you all of the permissions necessary for your intended use. For example, other rights such as publicity, privacy, or moral rights may limit how you use the material.