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Fish based preimplantation genetic diagnosis to prevent DiGeorge syndrome.

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.

SUBMITTER: Shefi S

PROVIDER: S-EPMC2758949 | biostudies-literature | 2009 Jul

REPOSITORIES: biostudies-literature

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Fish based preimplantation genetic diagnosis to prevent DiGeorge syndrome.

Shefi Shai S Raviv Gil G Rienstein Shlomit S Barkai Gad G Aviram-Goldring Ayala A Levron Jacob J

Journal of assisted reproduction and genetics 20090701 7

<h4>Purpose</h4>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.<h4>Design</h4>Case report.<h4>Setting</h4>Academic referral center.<h4>Patient</h4>A 32 year-old female affected by DiGeorge syndrome.<h4>Intervention(s)</h4>History and physical examination, karyotyping, amniocentesis, preimplantation genetic diagnosis, fluorescence in-situ hybridization.<h4>Main outcome m ...[more]

PMID: 19680801

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