The role of genetic counseling in the management of prenatally detected congenital heart defects

Abstract

Genetic counseling should be used in the context of prenatal diagnosis of congenital heart defects for several reasons. The insight gathered through the family history, review of ultrasound findings, and chromosome analysis may help to determine the origin of the defect, such that more precise information about prognosis and recurrence risks can be given. This information should be used by the patient to consider options for the current pregnancy and management of future ones. The difficult and emotionally charged decisions that come with prenatal diagnosis of congenital heart defects demand that the psychosocial burden be explored with the patient. Genetic counseling should facilitate the decision-making process and address patient needs. Genetic counselors have the training, experience, and time to focus on these elements. The role of genetic counseling in congenital heart defects is likely to increase as advances in understanding the underlying genetic causes are made and incorporated into patient care and counseling. Genetic counseling for this indication will become more common as prenatal detection improves and as more affected individuals live to reproductive age.