Genetic counseling for congenital heart disease – Practice resource of the National Society of Genetic Counselors

Abstract

Congenital heart disease (CHD) is an indication which spans multiple specialties across various genetic counseling practices. This practice resource aims to provide guidance on key considerations when approaching counseling for this particular indication while recognizing the rapidly changing landscape of knowledge within this domain. This resource was developed with consensus from a diverse group of certified genetic counselors utilizing literature relevant for CHD genetic counseling practice and is aimed at supporting genetic counselors who encounter this indication in their practice both pre-and postnatally.

Assessing genetic counselors’ graduate school education and training in congenital heart defects

“…While altering curricula of graduate programs was not a goal of this study or a recommendation from the findings, it shows that professional‐level resources maybe more reasonable and scalable. We look forward to seeing how the recently published NSGC Practice Resource for CHDs will be utilized by genetic counselors of all specialties (Ison et al., 2021).…”

Postnatal genetic testing on cord blood for prenatally identified high‐probability cases

“…Our study is concordant with previous findings regarding a diagnostic yield of 6%-12% among fetuses with cardiac anomalies. [19][20][21] Given these findings and recognized society guidelines for prenatal diagnostic testing for fetal anomalies, 5,22,23 CB collection for microarray is an appropriate test for structurally anomalous fetuses, particularly those with congenital heart anomalies.…”

Familial Aggregation Studies: A Valuable Tool in the Genetic Toolbox

“…Hence, it is not surprising that recent guidance on genetic counseling for CHDs offers limited information on counseling for CHDs of unknown cause and suggests caution in the use and interpretation of empirical risk estimates from familial aggregation studies. 3,4 Although work over the past decade has increased understanding of the genetic determinants of CHDs, the cause of CHDs remains unknown in over half of affected individuals. 5 Thus, despite their limitations, empirical recurrence risk estimates from familial aggregation studies remain a staple of genetic counseling for CHDs.…”

“…Hence, it is not surprising that recent guidance on genetic counseling for CHDs offers limited information on counseling for CHDs of unknown cause and suggests caution in the use and interpretation of empirical risk estimates from familial aggregation studies. 3,4…”