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Inherited Cardiac Diseases: Preimplantation Genetic Diagnosis - An Attractive Alternative to Prenatal Diagnosis

CASE REPORT, June 2010, VOL I ISSUE II, ISSN 2042-4884
10.5083/ejcm.20424884.09 , Cite or Link Using DOI
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Juliane Theilade, MD, PhD, Morten Dunø, MSci, PhD, Søren Ziebe, MSci, Henning Bundgaard, MD, DMSci


To prevent transmission of inherited diseases the PGD technique selects disease free embryos prior to uterine implantation.


During the last decades a number of inherited, monogenic cardiac diseases that may have a very grave prognosis have been identified.


Genetic testing of embryos prior to implantation in the uterus allows for in vitro selection of an embryo without a specific gene mutation.

Results. We describe two familial cases in which the need for conventional prenatal diagnosis with the the implied possibility that a abortion would have to be considered was bypassed using the PGD technique.


Younger patients from families afflicted with inherited diseases will demand a multidisciplinary approach including genetic counselling. Even if low pregnancy rates and high costs associated with PGD must be held against an individual evaluation of the health related risks faced by an afflicted child, cardiologists will need to bear this option in mind when managing patients with inherited cardiac diseases.