First successful preimplantation genetic diagnosis in Singapore--avoidance of beta-thalassaemia major
Yap, C.; Tan, A.S.C.; Wang, W.; Lim, M.N.; Chong, S.S.
Annals of the Academy of Medicine Singapore 38(8): 720-723
2009
ISSN/ISBN: 0304-4602 PMID: 19736578 Document Number: 632989
We report on the first successful preimplantation genetic diagnosis (PGD) in Singapore. A couple who are beta-thalassaemia carriers and have an affected daughter requested for PGD. Two cycles of PGD were performed on the couple. Beta-thalassaemia mutations were detected using a nested PCR and minisequencing strategy, and unaffected embryos were selected for transfer. A singleton pregnancy was achieved in the second PGD cycle, resulting in the birth of a healthy baby boy with carrier genotype. This case report documents the first successful PGD in Singapore, involving a couple at-risk of transmitting beta-thalassaemia major.