Abstract
Introduction: We report on the first successful preimplantation genetic diagnosis (PGD) in Singapore. Clinical Picture: A couple who are -thalassaemia carriers and have an affected daughter requested for PGD. Treatment: Two cycles of PGD were performed on the couple. -thalassaemia mutations were detected using a nested PCR and minisequencing strategy, and unaffected embryos were selected for transfer. Outcome: A singleton pregnancy was achieved in the second PGD cycle, resulting in the birth of a healthy baby boy with carrier genotype. Conclusions: This case report documents the first successful PGD in Singapore, involving a couple at-risk of transmitting -thalassaemia major. Key words: Beta-thalassaemia, Multiplex minisequencing, Polymerase chain reaction, Preimplantation genetic diagnosis
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