Annals of the Academy of Medicine, Singapore · 2009
First successful preimplantation genetic diagnosis in Singapore--avoidance of beta-thalassaemia major.
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Yap Christine, Tan Arnold S C, Wang Wen, Lim Mui Nee, Chong Samuel S
Аннотация
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.
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.