Prenatal Diagnosis and Preimplantation Genetic Testing for Inherited Cardiac Diseases

Inherited cardiac diseases (cardiomyopathies and channelopathies) are associated with an increased risk of sudden cardiac death (SCD). A common hallmark is the variable disease expression and incomplete penetrance. Therefore the phenotype varies widely between and within families. Carriers of a severe genetic disease have several reproductive options to fulfill their child wish due to progress in molecular genomics and assisted reproductive technology (Prenatal Diagnosis or Preimplantation Genetic Testing (PGT)). In this chapter, we describe the different reproductive techniques and evaluate the number of prenatal diagnoses and referrals for PGT for inherited cardiac diseases in literature and in the Netherlands in the past years. Although inherited cardiac diseases can exhibit a severe phenotype or a severe family history of sudden cardiac death, the number of patients with inherited cardiac diseases opting for and continuing with PND and PGT is small.