β-Thalassemia: Early prenatal diagnosis

Objective & Hypothesis:A case of beta-thalassemia major diagnosed by fetal DNA analysis on a chorion biopsy during the 11th, week of gestation is described.

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Key Findings & Data:A 30 year-old Gravida 2, Parite 1 patient whose firstborn died of beta thalassemia major (Cd8/A) when 2 years old, was admitted to our clinic on her 10th week of pregnancy.

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Conclusion & Impact:Med., 2012; 29:229-230

🔬Design:Article

📍Scope:2012 Verileri

⚙️Variables:β-Thalassemia major · prenatal diagnosis · thalassemia

Abstract

A case of beta-thalassemia major diagnosed by fetal DNA analysis on a chorion biopsy during the 11th, week of gestation is described. A 30 year-old Gravida 2, Parite 1 patient whose firstborn died of beta thalassemia major (Cd8/A) when 2 years old, was admitted to our clinic on her 10th week of pregnancy. Chorionic villus sampling was performed and resulted as beta thalassemia major (Cd8/Cd8). β-Talasemi: Doğum öncesi erken tanı Bu vakada 11 hafta gebelik sırasında koryon villus biopsisiyle beta talasemi majör tespit ettik. Hasta 30 yaşında ve bu ikinci gebeliğiydi. İlk bebeği 2 yaşında beta talasemi major nedeniyle ölmüş. Biz bu vakayı 10 hafta gebelikte değerlendirdik. Beta talasemi major tespit ettik ve gebeliği sonlandırdık. J. Exp. Clin. Med., 2012; 29:229-230

Keywords

β-Thalassemia major prenatal diagnosis thalassemia fetal DNA analysis chorion biopsy genetic defect (B-Talasemi major prenatal tanı Talasemi fetal DNA analizi koryon biyopsisi genetik defekt)

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Cite This Article

Güven, D., Ökten, G., Koçak, İ., Üstün, C. (2012). β-Thalassemia: Early prenatal diagnosis. Journal of Experimental and Clinical Medicine, Volume: 29 Issue: 3. https://doi.org/10.5835/jecm.omu.29.03.012

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References (4)

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Li, D., Liao, C., Li, J., Xie, X., Huang, Y., Zhong, H., Wei, J., 2006. Prenatal diagnosis of B-thalassemia in Southern China. Eur. J. Obstet. Gy- necol. Reprod. Biol. 128, 81—85.