Tekrarlayan Gebelik Kayıpları Nedeniyle Çalışılan 306 Çiftin Kromozom Analizi ve Trombofili Parametrelerinin Değerlendirilmesi: Tek Merkez Deneyimi

Abstract

Amaç: Bu çalışmanın amacı, hastanemize tekrarlayan gebelik kaybı nedeniyle başvuran çiftlere uygun genetik danışmanlık verebilmek için hem majör kromozom anomalilerinin hem de trombofili parametrelerinin etiyolojideki rolünü araştırmaktır. Gereç ve Yöntemler: Çalışmamıza tekrarlayan gebelik kaybı nedeniyle Başakşehir Çam ve Sakura Şehir Hastanesi Genetik Hastalıklar Değerlendirme Merkezi'ne başvuran toplam 306 çift dâhil edildi. Tüm hastalarda kromozom analizleri ve 306 bayanda trombofili parametrelerinin analizleri gerçekleştirildi. Bulgular: Çalışmamızda toplam 306 çiftin 13’ünde (%4,25) polimorfizm dışında kalan kromozomal anomaliler tespit edildi. 4 hastada robertsonian translokasyon, 3 hastada resiprokal traslokasyon, 4 hastada mozaik kromozom kuruluşu, 1 hastada yapısal kromozal dengesizlik (derivatif kromozom) ve 1 hastada sayısal kromozal anomali varlığı tespit edilmiştir. Geriye kalan 293 çiftin kromozom analizi normaldi. Çalışmamızda trombofili parametreleri analiz edilen 306 bayan olgunun yaklaşık %10’unda Faktör V Leiden varyantı saptanırken, Faktör II G20210A varyantı ise yaklaşık %3,5 oranında saptanmıştır. 3 hastada (%1) Faktör V Leiden varyantı homozigot, 27 hastada ise Faktör V Leiden varyantı (%8,8) heterozigot olarak saptanmıştır. 10 hastanın (%3,3) Faktör II G20210A varyantını heterozigot olarak taşıdıkları saptanmıştır. Faktör II G20210A varyantını homozigot olarak taşıtan bir hasta çalışmamızda saptanmamıştır. Sonuç: Mevcut bilgiler ve geçmişteki literatür çalışmaları eşliğinde tekrarlayan gebelik kaybı nedeniyle değerlendirilen çiftlerde etiyolojiyi aydınlatmak için kromozom analizi ve trombofili parametrelerinin değerlendirilmesini ve bu parametrelerde ilişkili olduğu düşünülen bir neden saptandığında tedavi imkanları bulunduğundan dolayı özellikle yardımcı üreme tekniklerinden önce bu analizlerin yapılmasını önermekteyiz.

Keywords

• Tekrarlayan gebelik kaybı
• habituel düşük
• kromozomal anormallikler
• translokasyon
• kalıtılmış trombofilik polimorfizmler

Evaluation of Both Chromosome Analysis and Thrombophilia Parameters of 306 Couples Studying for Recurrent Pregnancy Loss: A Single Center Experience

Abstract

Aim: The aim of this study is to investigate the role of both major chromosomal abnormalities and thrombophilia parameters in the etiology of patients with recurrent pregnancy loss to provide appropriate genetic counseling to couples who applied to our hospital due to recurrent pregnancy loss. Material and Methods: A total of 306 couples who applied to Başakşehir Çam and Sakura City Hospital Genetic Diseases Diagnosis Center due to recurrent pregnancy loss were included in our study. Chromosome analyzes were performed in all patients and analyzes of thrombophilia parameters were done in 306 women. Results: In our study, chromosomal anomalies other than polymorphisms were detected in 13 (4.25%) of a total of 306 couples. Robertsonian translocation in 4 patients, reciprocal translocation in 3 patients, mosaic chromosome formation in 4 patients, structural chromosomal imbalance (derivative chromosome) in 1 patient and numerical chromosomal anomaly in 1 patient were detected. Chromosome analysis of the remaining 293 pairs were normal. In our study, Factor V Leiden variant was detected in approximately 10% of 306 female cases whose thrombophilia parameters were analyzed, while Factor II G20210A variant was detected in approximately 3.5%. Factor V Leiden variant was found to be homozygous in 3 patients (1%) and heterozygous for Factor V Leiden variant in 27 (8.8%) patients. It was determined that 10 patients (3.3%) were heterozygous for the Factor II G20210A variant. A patient homozygously carrying the factor II G20210A variant was not found in our study. Conclusion: In the light of current information and previous literature studies, we recommend that chromosomal analysis and thrombophilia parameters be evaluated in order to clarify the etiology in couples who are evaluated for recurrent pregnancy loss, since there are treatment possibilities when a cause thought to be related to these parameters is detected these analyzes should be performed especially before assisted reproductive techniques,

Keywords

• Recurrent miscarriage
• habitual abortus
• chromosomal abnormalities
• translocation
• inherited thrombophilic polymorphisms

References

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