Tekrarlayan Fetal Kayıpları Olan Bir Hastada Düşükle İlişkili Mozaik Double Trizomi

Öz

Vaka Sunumu Daha önce beş düşük öyküsü olan 25 yaşında gebe kadın kliniğimize başvuruda bulundu. İlk gebeliğinde, anhidramnios nedeniyle 14. gebelik haftasında küretaj işlemi ile sonlandırılmıştı. İkinci gebeliği, erken membran rüptürü nedeniyle 19. gebelik haftasında düşükle sona ermişti. İlk iki hamileliğinin her ikisinin de fetal karyotip sonucu normal olarak saptanmıştı. Üçüncü gebeliği, gebeliğin 5. haftasında düşükle sonuçlanan ektopik bir gebelik olarak kayıt edilmişti. Vakamız, daha sonra, kromozomal anormallikler için araştırılma yapılamayan fetal kardiyak aktivitenin izlenmediği 7. gebelik haftasında iki düşük daha gerçekleştirdi. Mevcut gebeliği de fetal kardiyak aktivite izlenmemesi üzerine 9. gebelik haftasında planlı olarak sonlandırıldı. GTG bantlama tekniği kullanılarak küretaj materyalinin sitogenetik analizi sonucu 48, XY, + 12, + 15 [5] / 46, XY [25] karyotipi saptandı (7). Her iki ebeveynin de normal karyotipleri sahip olduğu ve fiziksel muayenelerde belirgin hiçbir anormalliklerinin olmadığı görüldü. Maternal Trombofili değerlendirmesinde heterozigot MTHFR C677T polimorfizmi olduğu ortaya çıktı.

Anahtar Kelimeler

• Double Trisomy
• Miscarriage
• Recurrent Fetal Loss

Mosaic Double Trisomy Associated with Miscarriage in a Patient with Recurrent Fetal Losses

Öz

A 25-year-old pregnant woman with a history of five previous miscarriages was admitted to our clinic. She had undergone abortion in her first pregnancy at 14 weeks gestation due to anhydramnios. Her second pregnancy had ended in a miscarriage at 19 weeks gestation due to premature rupture of membranes. Both of her first two pregnancies showed normal karyotypes. Her third pregnancy was noted to be an ectopic pregnancy leading to abortion at 5 weeks gestation. Afterwards, she experienced two more miscarriages at 7 weeks of gestation due to the lack of fetal cardiac activity which could not been investigated for chromosomal abnormalities. Her current pregnancy was also terminated at 9 weeks of gestation due to the lack of fetal cardiac activity. Cytogenetic analysis of abortion material using GTG banding technique revealed 48,XY,+12,+15[5]/46,XY[25] karyotype (7). Both parents were found to have normal karyotypes and physical examinations showed no obvious abnormalities. Thrombophilia evaluation revealed that she had heterozygous MTHFR C677T polymorphism.

Anahtar Kelimeler

• double trisomy
• miscarriage
• recurrent fetal loss

Kaynakça

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