Preimplantation genetic diagnosis with carrier mapping test: an encouraging new approach for couples without molecular diagnosis

Abstract

Initial step of Preimplantation Genetic Diagnosis for Single Gene Disorders is the investigation of a pathogenic mutation associated with the clinically diagnosed disorder in parents. In some cases clinical diagnosis of the baby with disease symptoms is elusive. Another scenario is the failure in detecting a pathogenic mutation associated with diagnosed disease. These situations prevent the possibility of parents to benefit from prenatal or preimplantation genetic diagnosis.