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Fish based preimplantation genetic diagnosis to prevent DiGeorge syndrome

  • Shai Shefi
  • Gil Raviv
  • Shlomit Rienstein
  • Gad Barkai
  • Ayala Aviram-Goldring
  • Jacob Levron
CASE REPORT

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.

Keywords

DiGeorge syndrome Velocardiofacial syndrome Microdeletion 22q11 deletion Preimplantation genetic diagnosis Fluorescence in situ hybridization 

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Copyright information

© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  • Shai Shefi
    • 1
  • Gil Raviv
    • 2
  • Shlomit Rienstein
    • 3
  • Gad Barkai
    • 4
  • Ayala Aviram-Goldring
    • 3
  • Jacob Levron
    • 4
  1. 1.Petach Tikva Andrology PracticePetach TikvaIsrael
  2. 2.Male Infertility Unit, Urology Department, Chaim Sheba Medical Center, Tel Hashomer, Affiliated to the Sackler School of MedicineTel Aviv UniversityTel AvivIsrael
  3. 3.The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, Affiliated to the Sackler School of MedicineTel Aviv UniversityTel AvivIsrael
  4. 4.IVF Unit, Department of Obstetrics and Gynecology, Chaim Sheba Medical Center, Tel Hashomer, Affiliated to the Sackler School of MedicineTel Aviv UniversityTel AvivIsrael

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