title: Antenatal diagnosis of homozygous beta thalassaemia in Mediterraneans in Australia.
abstract: Facilities for the antenatal diagnosis of homozygous beta thalassaemia have recently become available in Australia and in this paper, data from a series of 18 pregnancies examined at The Royal Women's Hospital, Melbourne, are analysed. Fetal blood was collected by fetoscopy and adequate samples were obtained in 16 cases (89%). In 5 pregnancies, fetal blood was shown to have a marked reduction in beta globin production (beta/alpha synthesis less than 0.030) and these pregnancies were terminated. Two pregnancies (11%) were lost in the immediate post-fetoscopy period and in a third pregnancy, neonatal death followed premature labour at 26 weeks' gestation. Seven babies were delivered normally at 36-40 weeks' gestation and cord blood studies excluded homozygous thalassaemia in all cases. The remaining pregnancy has yet to be delivered.
mesh_terms: D001315:Australia; D005006:Ethnicity; D005260:Female; D005312:Fetal Blood; D005315:Fetal Diseases / Q000175:diagnosis*; D005332:Fetoscopy; D005500:Follow-Up Studies; D005914:Globins / Q000096:biosynthesis; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000097:blood / Q000175:diagnosis*
chemical_list: D005914:Globins