First successful preimplantation genetic diagnosis in Singapore--avoidance of beta-thalassaemia major.
BACKGROUND
We report on the first successful preimplantation genetic diagnosis (PGD) in Singapore.


METHODS
A couple who are beta-thalassaemia carriers and have an affected daughter requested for PGD.


METHODS
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.


RESULTS
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.
Yap
Christine
C
Women's Health and Fertility Centre, Mount Elizabeth Medical Centre, Singapore.
Tan
Arnold S C
AS
Wang
Wen
W
Lim
Mui Nee
MN
Chong
Samuel S
SS
D000328:Adult; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D008297:Male; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D012307:Risk Factors; D012846:Singapore; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control