Successful preimplantation genetic diagnosis of Hb Bart's hydrops fetalis in Singapore after fresh and frozen embryo replacement cycles.
BACKGROUND
We 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.


METHODS
Two 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.


METHODS
One 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.


RESULTS
Couple 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.


CONCLUSIONS
We have successfully performed PGD to avoid Hb Bart's hydrops fetalis syndrome.
Yap
Christine
C
Women's Health and Fertility Centre, Mount Elizabeth Medical Centre, Singapore.
Wang
Wen
W
Tan
Arnold S C
AS
Tan
Wei Chin
WC
Lim
Mui Nee
MN
Chong
Samuel S
SS
D000328:Adult; D004624:Embryo Transfer; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006455:Hemoglobins, Abnormal; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D008297:Male; D018598:Minisatellite Repeats / Q000235:genetics; D010062:Ovulation Induction / Q000379:methods; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control; D019836:Preimplantation Diagnosis; D012846:Singapore; D020554:Sperm Injections, Intracytoplasmic; D055542:alpha-Globins / Q000235:genetics
D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C030448:hemoglobin Bart's