Tekrarlayan Fetal Kayıpları Olan Bir Hastada Düşükle İlişkili Mozaik Double Trizomi

Yıl 2020, Cilt: 17 Sayı: 4, 632 - 634, 31.12.2020

Canan Unal , Murat Cagan , Gizem Urel Erdem Fadıloğlu , Fatma Sema Anar Gülen Eda Utine , M.sinan Beksac

https://doi.org/10.38136/jgon.790143

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

• 1. Hassold T, Chen N, Funkhouser J, Jooss T, Manuel B, Matsuura J, et al. A cytogenetic study of 1000 spontaneous abortions. Annals of human genetics. 1980;44(2):151-64.
• 2. Ford C, Jones K, Miller O, Mittwoch U, Penrose L, Ridler M, et al. The chromosomes in a patient showing both mongolism and the Klinefelter syndrome. The Lancet. 1959;273(7075):709-10.
• 3. Diego-Alvarez D, Ramos-Corrales C, Garcia-Hoyos M, Bustamante-Aragones A, Cantalapiedra D, Diaz-Recasens J, et al. Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach. Human Reproduction. 2005;21(4):958-66.
• 4. Li QY, Tsukishiro S, Nakagawa C, Tanemura M, Sugiura‐Ogasawara M, Suzumori K, et al. Parental origin and cell stage of non‐disjunction of double trisomy in spontaneous abortion. Congenital anomalies. 2005;45(1):21-5.
• 5. Reddy K. Double trisomy in spontaneous abortions. Human genetics. 1997;101(3):339-45.
• 6. Hassold T. Mosaic trisomies in human spontaneous abortions. Human genetics. 1982;61(1):31-5.
• 7. Ütine GE, Çelik T, Alanay Y, Alikasifoglu M, Boduroglu K, Tunçbilek E, et al. Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients. The Turkish journal of pediatrics. 2009;51(3):199.
• 8. Micale M, Insko J, Ebrahim SA, Adeyinka A, Runke C, Van Dyke DL. Double trisomy revisited—a multicenter experience. Prenatal Diagnosis: Published in Affiliation With the International Society for Prenatal Diagnosis. 2010;30(2):173-6.
• 9. Stene J, Warburton D. Evidence for smaller probabilities for trisomic mosaicism for acrocentric than for nonacrocentric chromosomes. American journal of human genetics. 1981;33(3):484.
• 10. Eiben B, Schubbe I, Borgmann S, Hansmann I. Rapid cytogenetic diagnosis of early spontaneous abortions. The Lancet. 1986;327(8492):1273-4.
• 11. Taylor TH, Gitlin SA, Patrick JL, Crain JL, Wilson JM, Griffin DK. The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans. Human reproduction update. 2014;20(4):571-81.
• 12. Hassold T, Chiu D. Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy. Human genetics. 1985;70(1):11-7.
• 13. Robertson KD. DNA methylation and human disease. Nature Reviews Genetics. 2005;6(8):597.
• 14. Enciso M, Sarasa J, Xanthopoulou L, Bristow S, Bowles M, Fragouli E, et al. Polymorphisms in the MTHFR gene influence embryo viability and the incidence of aneuploidy. Human genetics. 2016;135(5):555-68.
• 15. Oliveira KCd, Bianco B, Verreschi IT, Guedes AD, Galera BB, Galera MF, et al. Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients. Arquivos Brasileiros de Endocrinologia & Metabologia. 2008;52(8):1374-81.
• 16. Kim SY, Park SY, Choi JW, Kim DJ, Lee SY, Lim JH, et al. Association between MTHFR 1298A> C polymorphism and spontaneous abortion with fetal chromosomal aneuploidy. American Journal of Reproductive Immunology. 2011;66(4):252-8.
• 17. Turgal M, Gumruk F, Karaagaoglu E, Beksac MS. Methylenetetrahydrofolate reductase polymorphisms and pregnancy outcome. Geburtshilfe und Frauenheilkunde. 2018;78(09):871-8.