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Updated: Jun 21, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Fish based preimplantation genetic diagnosis to prevent DiGeorge syndrome
Shai Shefi1, Gil Raviv, Shlomit Rienstein
1Petach Tikva Andrology Practice, Petach Tikva, Israel. dr.andrology@gmail.com
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.
