β-Thalassemia: Early prenatal diagnosis

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)

References

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