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

ABSTRACT

<p><b>INTRODUCTION</b>We report on the first successful preimplantation genetic diagnosis (PGD) in Singapore.</p><p><b>CLINICAL PICTURE</b>A couple who are beta-thalassaemia carriers and have an affected daughter requested for PGD.</p><p><b>TREATMENT</b>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.</p><p><b>OUTCOME</b>A singleton pregnancy was achieved in the second PGD cycle, resulting in the birth of a healthy baby boy with carrier genotype.</p><p><b>CONCLUSIONS</b>This case report documents the first successful PGD in Singapore, involving a couple at-risk of transmitting beta-thalassaemia major.</p>