First successful preimplantation genetic diagnosis in Singapore--avoidance of beta-thalassaemia major.

Introduction: We report on the first successful preimplantation genetic diagnosis (PGD) in Singapore.

Clinical Picture: A couple who are beta-thalassaemia carriers and have an affected daughter requested for PGD.

Treatment: 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.

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 beta-thalassaemia major.