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.