Carrier screening for α- and β-thalassemia in pregnancy: the results of an 11-year prospective program in Guangzhou Maternal and Neonatal Hospital

Results The screened records included 49 221 pregnant women, and 4503 husbands of the pregnant women showed positive on the screening test. Of the at-risk couples, there were 198 for α-thal (4.4%) and 83 for β-thal (1.8%), respectively. Genetic counseling was offered to all at-risk couples and a successful prenatal diagnosis was performed for 269 out of 281 (95.7%) for αor β-thal major, with the remaining 12 couples refusing to accept prenatal diagnosis. Out of 187 pregnancies at risk for homozygous α0-thal and 82 at risk for β-thal major, 51 hydrops fetalis with Hb Bart’s and 18 β-thal major were identified. All pregnancies with affected fetuses were voluntarily terminated, leading to a marked reduction of severe αand β-thal births at this hospital since the program has been launched.