Antenatal diagnosis of homozygous beta thalassaemia in Mediterraneans in Australia.
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.
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*
D005914:Globins