Successful preimplantation genetic diagnosis of Hb Bart's hydrops fetalis in Singapore after fresh and frozen embryo replacement cycles.
- Author:
Christine YAP
1
;
Wen WANG
;
Arnold S C TAN
;
Wei Chin TAN
;
Mui Nee LIM
;
Samuel S CHONG
Author Information
- Publication Type:Case Reports
- MeSH: 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
- From:Annals of the Academy of Medicine, Singapore 2009;38(10):910-913
- CountrySingapore
- Language:English
-
Abstract:
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.
