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 combina

SUBMITTER: Shefi S 

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

REPOSITORIES: biostudies-literature