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Updated: Jun 20, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
First successful preimplantation genetic diagnosis in Singapore--avoidance of beta-thalassaemia major
Christine Yap1, Arnold S C Tan, Wen Wang
1Women's Health and Fertility Centre, Mount Elizabeth Medical Centre, Singapore.
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.
