INTRODUCTIONWe report the fi rst successful preimplantation genetic diagnosis (PGD) for Hb Bart's hydrops fetalis in Singapore, involving both fresh and frozen embryo replacement cycles.

CLINICAL PICTURETwo couples who were carriers of the Southeast Asian type double gene deletion (--(SEA) deletion carriers) requested for PGD. Couple A had 2 previous affected pregnancies, while couple B have a child of unknown genotypic status.

TREATMENTOne PGD cycle was performed for each couple. The --(SEA) deletion was detected using a gap-PCR strategy. Couple A had 1 fresh-embryo replacement cycle while couple B underwent 2 frozen-embryo replacement cycles.

OUTCOMECouple A achieved a twin pregnancy. Second trimester complications resulted in premature delivery, where 1 baby girl survived. Couple B achieved a singleton pregnancy resulting in delivery of a healthy baby boy. Genotype analysis of all babies confirmed the PGD results consistent with clinically unaffected status.

CONCLUSIONSWe have successfully performed PGD to avoid Hb Bart's hydrops fetalis syndrome.

Adult ; Embryo Transfer ; Female ; Genetic Carrier Screening ; Genetic Testing ; Hemoglobins, Abnormal ; Humans ; Hydrops Fetalis ; diagnosis ; genetics ; prevention & control ; Male ; Minisatellite Repeats ; genetics ; Ovulation Induction ; methods ; Polymerase Chain Reaction ; Pregnancy ; Pregnancy Complications, Hematologic ; diagnosis ; genetics ; prevention & control ; Preimplantation Diagnosis ; Singapore ; Sperm Injections, Intracytoplasmic ; alpha-Globins ; genetics

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.

Adult ; Female ; Fertilization in Vitro ; Humans ; Male ; Pregnancy ; Preimplantation Diagnosis ; Risk Factors ; Singapore ; beta-Thalassemia ; diagnosis ; genetics ; prevention & control