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Ann Acad Med Singapore. 2009 Aug;38(8):720-3.

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

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  • 1Women's Health and Fertility Centre, Mount Elizabeth Medical Centre, Singapore.

Abstract

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.

PMID:
19736578
[PubMed - indexed for MEDLINE]
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