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  • Title: Carrier screening for alpha- and beta-thalassemia in pregnancy: the results of an 11-year prospective program in Guangzhou Maternal and Neonatal hospital.
    Author: Liao C, Mo QH, Li J, Li LY, Huang YN, Hua L, Li QM, Zhang JZ, Feng Q, Zeng R, Zhong HZ, Jia SQ, Cui YY, Xu XM.
    Journal: Prenat Diagn; 2005 Feb; 25(2):163-71. PubMed ID: 15712323.
    Abstract:
    OBJECTIVES: To evaluate the first prospective screening program in China for control of alpha and beta-thalassemia in the population of pregnant couples. METHODS: During the period between January 1993 and December 2003, a hospital-based preventive program was conducted at the biggest birth center in Guangzhou, with 1/17 of all deliveries in this city referred annually by use of conventional heterozygote screening strategy in combination with the system of regular healthcare examination in pregnancy. 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 alpha-thal (4.4%) and 83 for beta-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 alpha- or beta-thal major, with the remaining 12 couples refusing to accept prenatal diagnosis. Out of 187 pregnancies at risk for homozygous alpha0-thal and 82 at risk for beta-thal major, 51 hydrops fetalis with Hb Bart's and 18 beta-thal major were identified. All pregnancies with affected fetuses were voluntarily terminated, leading to a marked reduction of severe alpha- and beta-thal births at this hospital since the program has been launched. CONCLUSIONS: Our hospital-based program proved to be highly effective in reducing severe thals in pregnant populations.
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