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

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. Two couples who were carriers of the Southeast Asian type double gene deletion (--(SEA) deletion carriers) requested for...

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Veröffentlicht in:Annals of the Academy of Medicine, Singapore Singapore, 2009-10, Vol.38 (10), p.910-913
Hauptverfasser: Yap, Christine, Wang, Wen, Tan, Arnold S C, Tan, Wei Chin, Lim, Mui Nee, Chong, Samuel S
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container_end_page 913
container_issue 10
container_start_page 910
container_title Annals of the Academy of Medicine, Singapore
container_volume 38
creator Yap, Christine
Wang, Wen
Tan, Arnold S C
Tan, Wei Chin
Lim, Mui Nee
Chong, Samuel S
description 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. 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. 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. 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. We have successfully performed PGD to avoid Hb Bart's hydrops fetalis syndrome.
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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. 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. 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. 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subjects Adult
alpha-Globins - genetics
Embryo Transfer
Female
Genetic Carrier Screening
Genetic Testing
Hemoglobins, Abnormal
Humans
Hydrops Fetalis - diagnosis
Hydrops Fetalis - genetics
Hydrops Fetalis - prevention & control
Male
Minisatellite Repeats - genetics
Ovulation Induction - methods
Polymerase Chain Reaction
Pregnancy
Pregnancy Complications, Hematologic - diagnosis
Pregnancy Complications, Hematologic - genetics
Pregnancy Complications, Hematologic - prevention & control
Preimplantation Diagnosis
Singapore
Sperm Injections, Intracytoplasmic
title Successful preimplantation genetic diagnosis of Hb Bart's hydrops fetalis in Singapore after fresh and frozen embryo replacement cycles
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