Comparison of chromosome analysis, factor V Leiden, and prothrombin G20210A mutation results according to the number of pregnancy losses in recurrent pregnancy loss

Year 2025, Volume: 26 Issue: 1, 56 - 62, 20.03.2025

Hande Özkalaycı , Mehmet Kocabey

https://doi.org/10.69601/meandrosmdj.1570237

Abstract

Objective: Recurrent pregnancy loss is defined as the loss of two or more pregnancies in some sources, or three or more in others, before 20-24 weeks of gestation. The causes being investigated include parental chromosomal abnormalities and hereditary thrombophilia. We aimed to reveal the frequency of parental chromosome abnormalities, Prothrombin G20210A mutations (PGM), and Factor V Leiden (FVL) in couples presenting with recurrent pregnancy losses and to test whether there is a significant difference between two and more than two pregnancy losses.
Materials and Methods: A total of 171 couples who presented to the Medical Genetics outpatient clinics of two tertiary hospitals located in Bolu and Hatay provinces due to a history of recurrent pregnancy loss were evaluated. Demographic data, medical and family history, chromosomal analysis results of the couples, and FVL and PGM results of the women were recorded.
Results: We detected chromosomal abnormalities in 2.9% of those evaluated. Factor V Leiden frequency was found to be 11.5% and PGM frequency was 3%. No statistically significant distinction was obtained between the groups, categorized as those with two and more than two pregnancy losses, in terms of the occurrence of chromosomal abnormalities (p=0.65), FVL (p=0.58), and PGM (p=0.65).
Conclusion: A similar approach to requesting a test can be taken for both patient groups. Due to the limited number of patients, a meta-analysis of this result with other case series in Turkey would be beneficial.

Keywords

Thrombophilia, Recurrent pregnancy loss, Prothrombin, Factor V, Chromosome abnormalities

Ethical Statement

This study provided ethical approval from the Bolu Abant Izzet Baysal University Ethics Committee. (Date: 23.08.2022 Decision No: 2022/223). The conduct of this study was attached to the principles of the Declaration of Helsinki.

Supporting Institution

This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.

Thanks

We would like to thank the staff of Haseki Sultangazi Genetic Diseases Evaluation Center for their assistance in performing the genetic tests in our study.

Tekrarlayan gebelik kayıplarında gebelik kaybı sayısına göre kromozom analizi, faktör V Leiden ve protrombin G20210A mutasyon sonuçlarının karşılaştırılması

Abstract

Amaç: Tekrarlayan gebelik kaybı, bazı kaynaklarda iki veya daha fazla, bazılarında ise üç veya daha fazla gebeliğin 20-24. gebelik haftasından önce kaybedilmesi olarak tanımlanmaktadır. Araştırılan nedenler arasında ebeveyn kromozom anormallikleri ve kalıtsal trombofili yer almaktadır. Tekrarlayan gebelik kayıpları ile başvuran çiftlerde ebeveyn kromozom anormallikleri, Protrombin G20210A mutasyonları (PGM) ve Faktör V Leiden (FVL) sıklığını ortaya koymayı, iki ve ikiden fazla gebelik kayıpları arasında anlamlı bir fark olup olmadığını test etmeyi amaçladık.
Gereç ve Yöntem: Bolu ve Hatay illerinde bulunan iki üçüncü basamak hastanenin Tıbbi Genetik polikliniklerine tekrarlayan gebelik kaybı öyküsü nedeniyle başvuran toplam 171 çift değerlendirildi. Çiftlerin demografik verileri, tıbbi ve soygeçmişleri, kromozomal analiz sonuçları, kadınların FVL ve PGM sonuçları kaydedildi.
Bulgular: Değerlendirilenlerin %2,9'unda kromozomal anormallikler tespit ettik. Faktör V Leiden frekansı %11,5, PGM frekansı ise %3 olarak bulundu. İki ve ikiden fazla gebelik kaybı yaşayan gruplar arasında kromozomal anormallikler (p=0,65), FVL (p=0,58) ve PGM (p=0,65) görülme sıklığı açısından istatistiksel olarak anlamlı bir farklılık elde edilmedi.
Sonuç: Her iki hasta grubu için de test isteme konusunda benzer bir yaklaşım izlenebilir. Hasta sayısının sınırlı olması nedeniyle, bu sonucun Türkiye'deki diğer vaka serileriyle meta-analizinin yapılması faydalı olacaktır.

Keywords

Trombofili; Tekrarlayan gebelik kaybı; Protrombin; Faktör V; Kromozom anormallikleri

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