Fish based preimplantation genetic diagnosis to prevent DiGeorge syndrome.
OBJECTIVE
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.


METHODS
Case report.


METHODS
Academic referral center.


METHODS
A 32 year-old female affected by DiGeorge syndrome.


METHODS
History and physical examination, karyotyping, amniocentesis, preimplantation genetic diagnosis, fluorescence in-situ hybridization.


METHODS
Avoidance of pregnancy with embryo affected by DiGeorge syndrome.


RESULTS
Termination of pregnancy with an affected embryo followed by fluorescence in-situ hybridization based preimplantation genetic diagnosis and delivery of healthy offspring.


CONCLUSIONS
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.
Shefi
Shai
S
Petach Tikva Andrology Practice, Petach Tikva, Israel. dr.andrology@gmail.com
Raviv
Gil
G
Rienstein
Shlomit
S
Barkai
Gad
G
Aviram-Goldring
Ayala
A
Levron
Jacob
J
D000328:Adult; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011247:Pregnancy; D011256:Pregnancy Outcome; D019836:Preimplantation Diagnosis
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