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Genetic Testing Guidelines Impact Care in Newborns with Congenital Heart Defects

Matthew D Durbin1, Korre Fairman2, Lindsey R Helvaty3

  • 1Division of Neonatal-Perinatal Medicine, Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN.

The Journal of Pediatrics
|May 21, 2023
PubMed

Insights

Genetic testing for newborns with congenital heart defects (CHD) increased significantly after new guidelines were implemented. This led to more diagnoses with potential to impact patient care.

Area of Science:

  • Medical Genetics
  • Pediatric Cardiology
  • Genomic Medicine

Background:

  • Congenital heart defects (CHD) are the most common birth defect.
  • Genetic evaluation is crucial for understanding CHD etiology and guiding patient management.
  • Practices for genetic evaluation in newborns with CHD have evolved.

Purpose of the Study:

  • To evaluate the prevalence and yield of genetic evaluation in newborns with CHD.
  • To assess changes in genetic evaluation practices before and after implementing institutional guidelines.
  • To determine the impact of updated guidelines on genetic testing utilization and diagnostic yield.

Main Methods:

  • Retrospective, cross-sectional study of 664 hospitalized newborns with CHD.
  • Multivariate analyses of genetic evaluation practices over time and across patient subtypes.
  • Comparison of genetic testing utilization and methods pre- and post-guideline implementation in 2014.

Main Results:

  • Genetic testing increased from 40% in 2013 to 75% in 2018 (OR 5.02).
  • Medical geneticist involvement rose from 24% to 64% during the same period.
  • The overall genetic testing yield was high (42%) and consistent, identifying an additional 10 diagnoses annually.

Conclusions:

  • Implementation of genetic testing guidelines significantly increased testing rates and shifted towards advanced methods like exome sequencing.
  • Genetic testing in newborns with CHD demonstrated a high diagnostic yield, providing clinically significant results.
  • Increased genetic testing has the potential to positively impact patient care and management strategies for CHD.
Abstract

Keywords:
cardiovascular geneticscongenital heart diseasegenetic testing

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