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

Hande Özkalaycı; Mehmet Kocabey

Makale detayları

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

Yazarlar:

Hande Özkalaycı | Mehmet Kocabey

Yayıncı:

Aydin Adnan Menderes University

Ana Başlıklar:

Medical Genetics (Excl. Cancer Genetics)

Dergi:

Meandros Medical And Dental Journal Vol.26 Issue 1, pp.56-62

Belge Tipi:

Makale

Yayın Tarihi:

3/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001342922

pISSN:

2149-9063

Anahtar kelimeler:

Özet:

 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 p0.65, FVL p0.58, and PGM p0.65. 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.

 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 p0.65, FVL p0.58, and PGM p0.65. 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.

 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 p0.65, FVL p0.58, and PGM p0.65. 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.

 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 2,9unda 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 p0,65, FVL p0,58 ve PGM p0,65 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 Türkiyedeki diğer vaka serileriyle meta-analizinin yapılması faydalı olacaktır.

Makale detayları

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

Yazarlar:

Hande Özkalaycı | Mehmet Kocabey

Yayıncı:

Aydin Adnan Menderes University

Ana Başlıklar:

Medical Genetics (Excl. Cancer Genetics)

Dergi:

Meandros Medical And Dental Journal Vol.26 Issue 1, pp.56-62

Belge Tipi:

Makale

Yayın Tarihi:

3/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001342922

pISSN:

2149-9063

Thrombophilia

Recurrent pregnancy loss

Prothrombin

Factor V

Chromosome abnormalitiesTrombofili; Tekrarlayan gebelik kaybı; Protrombin; Faktör V; Kromozom anormallikleri

Sayı

Makale detayları

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

Yazarlar: Hande Özkalaycı | Mehmet Kocabey

Yayıncı: Aydin Adnan Menderes University

Ana Başlıklar: Medical Genetics (Excl. Cancer Genetics)

Dergi: Meandros Medical And Dental Journal Vol.26 Issue 1, pp.56-62

Belge Tipi: Makale

Yayın Tarihi: 3/2025

Belge Dili: İngilizce

Document ID (Org No.): 2001342922

pISSN: 2149-9063

Thrombophilia

Recurrent pregnancy loss

Prothrombin

Factor V

Chromosome abnormalitiesTrombofili; Tekrarlayan gebelik kaybı; Protrombin; Faktör V; Kromozom anormallikleri

Sayı

Yazarlar:

Hande Özkalaycı | Mehmet Kocabey

Yayıncı:

Aydin Adnan Menderes University

Ana Başlıklar:

Medical Genetics (Excl. Cancer Genetics)

Dergi:

Meandros Medical And Dental Journal Vol.26 Issue 1, pp.56-62

Belge Tipi:

Makale

Yayın Tarihi:

3/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001342922

pISSN:

2149-9063