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

<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>

Successful preimplantation genetic diagnosis of Hb Bart's hydrops fetalis in Singapore after fresh and frozen embryo replacement cycles

<p><b>INTRODUCTION</b>We report the fi rst successful preimplantation genetic diagnosis (PGD) for Hb Bart's hydrops fetalis in Singapore, involving both fresh and frozen embryo replacement cycles.</p><p><b>CLINICAL PICTURE</b>Two couples who were carriers of the Southeast Asian type double gene deletion (--(SEA) deletion carriers) requested for PGD. Couple A had 2 previous affected pregnancies, while couple B have a child of unknown genotypic status.</p><p><b>TREATMENT</b>One PGD cycle was performed for each couple. The --(SEA) deletion was detected using a gap-PCR strategy. Couple A had 1 fresh-embryo replacement cycle while couple B underwent 2 frozen-embryo replacement cycles.</p><p><b>OUTCOME</b>Couple A achieved a twin pregnancy. Second trimester complications resulted in premature delivery, where 1 baby girl survived. Couple B achieved a singleton pregnancy resulting in delivery of a healthy baby boy. Genotype analysis of all babies confirmed the PGD results consistent with clinically unaffected status.</p><p><b>CONCLUSIONS</b>We have successfully performed PGD to avoid Hb Bart's hydrops fetalis syndrome.</p>