First successful preimplantation genetic diagnosis in Singapore--avoidance of beta-thalassaemia major.
- Author:
Christine YAP
1
;
Arnold S C TAN
;
Wen WANG
;
Mui Nee LIM
;
Samuel S CHONG
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Female; Fertilization in Vitro; Humans; Male; Pregnancy; Preimplantation Diagnosis; Risk Factors; Singapore; beta-Thalassemia; diagnosis; genetics; prevention & control
- From:Annals of the Academy of Medicine, Singapore 2009;38(8):720-723
- CountrySingapore
- Language:English
-
Abstract:
INTRODUCTIONWe report on the first successful preimplantation genetic diagnosis (PGD) in Singapore.
CLINICAL PICTUREA couple who are beta-thalassaemia carriers and have an affected daughter requested for PGD.
TREATMENTTwo 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.
OUTCOMEA singleton pregnancy was achieved in the second PGD cycle, resulting in the birth of a healthy baby boy with carrier genotype.
CONCLUSIONSThis case report documents the first successful PGD in Singapore, involving a couple at-risk of transmitting beta-thalassaemia major.
