Abstract
Purpose
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.
Design
Case report.
Setting
Academic referral center.
Patient
A 32 year-old female affected by DiGeorge syndrome.
Intervention(s)
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.
Result(s)
Termination of pregnancy with an affected embryo followed by fluorescence in-situ hybridization based preimplantation genetic diagnosis and delivery of healthy offspring.
Conclusion(s)
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.
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Capsule Use of fluorescence in-situ hybridization in the setting of preimplantation genetic diagnosis in order to diagnose embryos affected by DiGeorge syndrome.
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Shefi, S., Raviv, G., Rienstein, S. et al. Fish based preimplantation genetic diagnosis to prevent DiGeorge syndrome. J Assist Reprod Genet 26, 411–413 (2009). https://doi.org/10.1007/s10815-009-9334-6
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DOI: https://doi.org/10.1007/s10815-009-9334-6