Alpha-thalassemia: prenatal diagnosis and neonatal implications

Homozygous alpha-thalassemia major, or Bart's hemoglobinopathy, is the most common etiology of nonimmune hydrops in those of Oriental descent. The prenatal diagnosis can now be made utilizing DNA hybridization technique from fetal cells obtained by either amniocentesis or chorionic villus sampling. A case is reviewed documenting the utilization of DNA studies in managing patients known or suspected to have a history of alpha-thalassemia major.