Chapter 8 - Clinical aspects of preimplantation genetic diagnosis

Summary

Preimplantation genetic diagnosis (PGD) followed by implantation of disease-free embryos offers couples at high risk of transmitting a serious genetic disorder a possibility of avoiding the risk of disease in their offspring. The gynecologist, in collaboration with the in vitro fertilization (IVF) laboratory, is responsible for evaluation of the suitability of the couple for undergoing IVF, for the IVF or intracytoplasmic sperm injection (ICSI) treatment. Clinical geneticists or counselors, and molecular geneticists are mainly responsible for evaluation of the genetic indication for PGD, pre-test counseling and the genetic testing of the embryo. The number of referrals and the number of treatments for monogenic disorders has shown a gradual increase over the years. PGD for autosomal dominant disorders is applied on a routine basis for several trinucleotide repeat disorders such as Huntington disease, myotonic dystrophy, several spinocerebellar atrophy (SCA) types, and also for other disorders such as Charcot-Marie-Tooth disease.