The impact of inherited thrombophilia on first trimester combined aneuploidy screening parameters

Authors

  • Z. Kirovakov Department of Midwifery Care, Faculty of Health care, Medical University – Pleven, Bulgaria; University Multiprofile Hospital for Active Treatment – Burgas, Bulgaria Author
  • N. Hinkova Department of Midwifery Care, Faculty of Health care, Medical University – Pleven, Bulgaria Author
  • E. Konova Department of Clinical Laboratory, Allergology and Clinical Immunology, Medical University – Pleven, Bulgaria Author

DOI:

https://doi.org/10.2478/AMB-2024-0073

Keywords:

pregnancy-associated plasma protein A (PAPP-A), human chorionic gonadotropin (HCG), nuchal translucency (NT), trisomy

Abstract

Objective. To investigate the impact of thrombophilia on pregnancy-associated plasma protein A (PAPP-A) and human chorionic gonadotropin (hCG) and the nuchal translucency (NT) during the first trimester of the pregnancy. Material and Methods. A case-control research study was conducted at a prenatal outpatient unit of a tertiary referral hospital in Burgas, Bulgaria, between January 1st, 2021 and March 31st, 2023. A total of 309 pregnant women patients with congenital thrombophilia took part in the experimental research of the study, while 150 healthy pregnant women patients without evidence of thrombophilia were the control sample. Results. A statistically significant difference in the pregnancy-associated plasma protein A (PAPP-A), t(369) = 1.028, p < 0.05 between the two groups, with the experimental group reporting lower multiples of median (MoM) values as compared to the control group. The results showed statistically significant differences in the median values of PAPP-A and NT between the different types of inherited thrombophilia but no statistically significant difference in the median values of HCG. The results showed no statistically significant difference in age, gravidity, or parity between the experimental and control groups. Conclusion. The first trimester combined aneuploidy screening parameters are important in prenatal detection of the pregnancy status for identification of any variations in terms of chromosomal and fetal structural anomalies. Inherited thrombophilia adversely impacts the aneuploidy screening parameters during the first trimester of pregnancy. 

References

Karagur, E. et al. The impact of hereditary thrombophilias in recurrent pregnancy loss, Genetika, 2022, 54(3), pp. 13991410. doi:10.2298/gensr2203399k

Karsli MF, et al. The impact of inherited thrombophilia on first trimester combined aneuploidy screening test parameters, The Journal of Maternal-Fetal & Neonatal Medicine, 2013, 27(4), pp. 346–349. doi:10.3109/14767058.20 13.818123

Kirovakov Z, Gyokova E, et al. Thromboprophylaxis during pregnancy for prevention of adverse complications in patients with inherited thrombophilia: A literature review, Journal of Biomedical and Clinical Research, б2024, 17(1), 115–126. doi:10.3897/jbcr.e123690

Kirovakov Z, Hinkova N, Konova E. Frequency of Thrombophilic Factors in Patients with Recurrent Pregnancy Loss, ISAR Journal of Medical and Pharmaceutical Sciences, 2024, 2(3)

Kirovakov Z, Konova E, Hinkova N, Markova S. The Role of Gestational Management and use of LMWH and Aspirin in Patients with Inherited thrombophilia, ISAR Journal of Medical and Pharmaceutical Sciences, 2024, 2(3). doi:10.5281/zenodo.10791430

Linehan LA. et al. Reproductive outcomes following recurrent first-trimester miscarriage: A retrospective cohort study, Human Reproduction Open, 2022 (4)

Shehata H, et al. Prevalence of thrombophilia in women with recurrent early miscarriage, and a systematic review of the literature, SSRN Electronic Journal [Preprint] 2021, doi:10.2139/ssrn.3812429

Shehata H, et al. Thrombophilia screening in women with recurrent first trimester miscarriage: Is it time to stop testing? – A cohort study and systematic review of the literature, BMJ Open, 2022, 12(7). doi:10.1136/bmjopen-2021-059519.

Fabregues F, et al. The role of Thrombophilias in reproduction: A SWOT analysis, European Journal of Obstetrics & Gynecology and Reproductive Biology, 2023, 280, 12–21. doi:10.1016/j.ejogrb.2022.10.024

Gojnic MG, et al. Combined hereditary thrombophilias are responsible for poor placental vascularization development and low molecular weight heparins (LMWH) prevent adverse pregnancy outcomes in these patients, The Journal of Maternal-Fetal & Neonatal Medicine, 2020, 35(22), 4346–4353. doi:10.1080/14767058.2020.1849116

Grandone E, Piazza G. Thrombophilia, inflammation, and recurrent pregnancy loss: A case-based review, Seminars in Reproductive Medicine, 2021, 39(01/02), pp. 062–068. doi:10.1055/s-0041-1731827

Ahangari N, et al. Hereditary thrombophilia genetic variants in recurrent pregnancy loss, Archives of Gynecology and Obstetrics,

, 300(3), pp. 777–782. doi:10.1007/s00404-019-05224-7

Vomstein K, et al. Immunological risk factors in recurrent pregnancy loss: Guidelines versus current state of the art, Journal of Clinical Medicine, 2021, 10(4), p. 869. doi:10.3390/ jcm10040869

Kirovakov Z, Konova E, Hinkova N, et al. Immunological risk factors in recurrent pregnancy loss in patients with hereditary throm

bophilia, Cureus [Preprint] 2024, doi:10.7759/cureus.56555

Alecsandru D, et al. Immunologic causes and thrombophilia in recurrent pregnancy loss, Fertility and Sterility, 2021, 115(3), 561–566. doi:10.1016/j.fertnstert.2021.01.017

Borsi E, et al. Risk factors of thrombophilia-related mutations for early and late pregnancy loss, Medicina, 2024, 60(4), p. 521. doi:10.3390/medicina60040521

Deng Y, et al. Research trends and hotspots of recurrent pregnancy loss with thrombophilia: A bibliometric analysis, BMC Pregnancy and Childbirth, 2022, 22(1). doi:10.1186/s12884-022-05210-z

Han AR, Han JW, Lee SK. Inherited thrombophilia and anticoagulant therapy for women with reproductive failure, American Journal of Reproductive Immunology, 2020, 85(4). doi:10.1111/aji.13378

Iordache O, et al. A retrospective assessment of thrombophilia in pregnant women with first and second trimester pregnancy loss, International Journal of Environmental Research and Public Health, 2022, 19(24), p. 16500. doi:10.3390/ijerph192416500

Lafalla O. et al. Clinical utility of thrombophilia, anticoagulant treatment, and maternal variables as predictors of placenta

mediated pregnancy complications: An extensive analysis’, The Journal of Maternal-Fetal & Neonatal Medicine, 2019, 34(4), pp. 588–598. doi:10.1080/14767058.2019.161764

Wen Y, He H, Zhao K. Thrombophilic gene polymorphisms and recurrent pregnancy loss: A systematic review and meta-analysis, Journal of Assisted Reproduction and Genetics, 2023, 40(7), 1533–1558. doi:10.1007/s10815-02302823-x

Yousif TY. Prevalence of inherited thrombophilia in women with recurrent pregnancy loss during the first trimester of pregnancy, Journal of Blood Medicine, 2023, Volume 14, 253–259. doi:10.2147/jbm.s401469

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Published

20.11.2024

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ORIGINAL ARTICLES

How to Cite

Kirovakov, Z., Hinkova, N., & Konova, E. . (2024). The impact of inherited thrombophilia on first trimester combined aneuploidy screening parameters. Acta Medica Bulgarica, 51(4), 22-27. https://doi.org/10.2478/AMB-2024-0073