CHẨN ĐOÁN DI TRUYỀN TIỀN LÀM TỔ VÀ CHẨN ĐOÁN TRƯỚC SINH BỆNH POMPE Nguyễn Thanh Tùng1, Triệu

Abstract

Pompe disease (OMIM #232300) or glycogen storage disease type 2 (GSD-II) is a monogenic recessive disease on chromosome 17, caused by mutations on the GAA gene (17q25.3), which is responsible for the coding acid synthase alpha-glucosidase (GAA) - an enzyme involved in glycogen metabolism in lysosomes. Enzyme therapy has gained popularity and successfully enhanced disease status, and significantly improved Pompe treatments in Vietnam. Additionally, the increasing application of preimplantation genetic diagnostic and prenatal diagnosis techniques in Vietnam enables couples carrying the gene mutation to have healthy offspring. Objectives: The outcomes of preimplantation genetic diagnosis and prenatal testing for Pompe disease in a clinical case have been reported. Materials and methods: To find mutations in day five biopsied embryos, amniotic fluid samples, and parents' blood samples, linkage analysis will be performed in combination with sequencing. Results: We successfully performed preimplantation genetic diagnosis and prenatal diagnosis for a couple with a history of giving birth to a child with Pompe disease: a normal embryo without the mutation and an amniotic sample from an affected fetus carrying both mutations GAA:c.1933G>C (p.Asp645His) and GAA:c.1843G>A (p.Gly615Arg). The woman received genetic counseling and then terminated the pregnancy at 18 weeks. Follow-up counseling for the couple was performed.