Fish based preimplantation genetic diagnosis to prevent DiGeorge syndrome
To report the performance of fluorescence in-situ hybridization in the setting of preimplantation genetic diagnosis in order to diagnose embryos affected by DiGeorge syndrome.
Academic referral center.
A 32 year-old female affected by DiGeorge syndrome.
History and physical examination, karyotyping, amniocentesis, preimplantation genetic diagnosis, fluorescence in-situ hybridization.
Main outcome measure(s)
Avoidance of pregnancy with embryo affected by DiGeorge syndrome.
Termination of pregnancy with an affected embryo followed by fluorescence in-situ hybridization based preimplantation genetic diagnosis and delivery of healthy offspring.
The combination of preimplantation genetic diagnosis with fluorescence in-situ hybridization is recommended to prevent pregnancies with DiGeorge syndrome affected embryos in properly selected patients.
KeywordsDiGeorge syndrome Velocardiofacial syndrome Microdeletion 22q11 deletion Preimplantation genetic diagnosis Fluorescence in situ hybridization