Preimplantation genetic diagnosis

A major development in genetics and reproductive technology that has increasing applications to the dystonia community is a process called preimplantation genetic diagnosis (PGD).

PGD is a method of in vitro fertilization in which couples can dramatically reduce the possibility of a child inheriting a potentially disease-causing genetic mutation. Several of a woman’s eggs are fertilized outside her body and those conceptions that test negative for the disease mutation are re-implanted into her uterus.

PGD is feasible for forms of dystonia that are associated with a single gene mutation such as DYT1 dystonia.

For more information, consult a genetic counselor. Visit the website of the National Society of Genetic Counselors to access a searchable directory: http://www.nsgc.org/

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