中华医学杂志（英文版）2004，Vol.117Issue(4)：483-487,5.
Birth of healthy children after preimplantation diagnosis of β-thalassemia
Birth of healthy children after preimplantation diagnosis of β-thalassemia
摘要
Abstract
Background Clinical programs for preventing β-thalassemia are presently based on prospective carrier screening and prenatal diagnosis. This paper report an achievement of a pregnancy with unaffected embryos using in vitro fertilization and embryo transfer (IVF-ET), in combination with preimplantation genetic diagnosis (PGD), for a couple at risk of having children with β-thalassemia.Methods A couple carrying different thalassemia mutations, both a codon 41-42 mutation and the IVS Ⅱ 654 mutation, received standard IVF treatment, with intracytoplasmic sperm injection, embryo biopsiy, single cell polymerase chain reaction (PCR) and DNA analysis. Only unaffected or carrier embryos were transferred to the uterine cavity. After confirmation of pregnancy, a prenatal diagnosis was performed.Results Of a total of 13 embryos analyzed for β-globin mutations, PGD indicated that 2 were normal,3 were affected, and 6 were carriers. Diagnosis could not be made in the other 2 embryos. Three embryos were transferred to the uterus on the third day after oocyte retrieval. Ultrasonography revealed a twin pregnancy with one blighted ovum. The prenatal genetic diagnosis revealed that both fetuses were unaffected, and two healthy boys were born, confirming the results of PGD.Conclusions We developed a single-cell based primer extension preamplification (PEP)-PCR assay for the detection of β-thalassemia mutations. The assays were efficient and accurate at all stages of the procedure, and resulted in the birth of PGD-confirmed β-thalassemia free children in China. PEP was used here in PGD for β-thalassemia.关键词
thalassemia/preimplantation diagnosis/pregnancy gene amplificationKey words
thalassemia/preimplantation diagnosis/pregnancy gene amplification分类
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焦泽旭,庄广伦,周灿权,舒益民,李洁,梁晓燕..Birth of healthy children after preimplantation diagnosis of β-thalassemia[J].中华医学杂志（英文版）,2004,117(4):483-487,5.基金项目
The study was surported by a grant from Nature Science Foundation of Guangdong Province. (No. 31689) （No. 31689）
