Related Experiment Video
Updated: Jul 24, 2025
A Modified Sonographic Algorithm for Image Acquisition in Life-Threatening Emergencies in the Critically Ill Newborn
Published on: April 7, 2023
Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease
Thomas Hays1, Rebecca Hernan2, Michele Disco2
1Division of Neonatology, Department of Pediatrics (T.H., N.G., D.V., G.K.), Columbia University Irving Medical Center, New York, NY.
Insights
Rapid genome sequencing (rGS) diagnosed genetic disorders in 27% of infants with complex congenital heart disease (CHD). This led to significant clinical management changes in 62% of cases, improving infant care.
Area of Science:
- Genomics
- Pediatric Cardiology
- Neonatology
Background:
- Congenital heart disease (CHD) is a primary cause of infant mortality.
- Genetic disorders frequently underlie complex CHD.
- The prospective utility of rapid genome sequencing (rGS) in infants with CHD remains understudied.
Purpose of the Study:
- To prospectively evaluate the impact of rGS on the clinical management of infants with complex CHD.
- To assess the diagnostic yield and clinical utility of rGS in this specific pediatric population.
Main Methods:
- A prospective evaluation of 48 infants with complex CHD in a cardiac neonatal intensive care unit.
- Utilized rapid genome sequencing (rGS) for genetic diagnosis.
- Coordinated care involved neonatologists, cardiologists, surgeons, geneticists, and genetic counselors.
Main Results:
- rGS identified genetic disorders in 13 out of 48 infants (27%).
- Clinical management was altered in 8 cases (62%) based on diagnostic results.
- Diagnoses averted unnecessary interventions and facilitated early treatment for conditions like eye disease.
Conclusions:
- This is the first prospective study on rGS for infants with complex CHD.
- rGS is a valuable tool for diagnosing genetic disorders in infants with CHD, leading to significant management changes.
- Further research is needed to broaden the implementation of rGS for a larger CHD infant population.
Background:
Rapid genome sequencing (rGS) has been shown to improve care of critically ill infants. Congenital heart disease (CHD) is a leading cause of infant mortality and is often caused by genetic disorders, yet the utility of rGS has not been prospectively studied in this population.
Methods:
We conducted a prospective evaluation of rGS to improve the care of infants with complex CHD in our cardiac neonatal intensive care unit.
Results:
In a cohort of 48 infants with complex CHD, rGS diagnosed 14 genetic disorders in 13 (27%) individuals and led to changes in clinical management in 8 (62%) cases with diagnostic results. These included 2 cases in whom genetic diagnoses helped avert intensive, futile interventions before cardiac neonatal intensive care unit discharge, and 3 cases in whom eye disease was diagnosed and treated in early childhood.
Conclusions:
Our study provides the first prospective evaluation of rGS for infants with complex CHD to our knowledge. We found that rGS diagnosed genetic disorders in 27% of cases and led to changes in management in 62% of cases with diagnostic results. Our model of care depended on coordination between neonatologists, cardiologists, surgeons, geneticists, and genetic counselors. These findings highlight the important role of rGS in CHD and demonstrate the need for expanded study of how to implement this resource to a broader population of infants with CHD.
More Related Videos
06:30Rapid and Efficient Zebrafish Genotyping Using PCR with High-resolution Melt Analysis
Published on: February 5, 2014
10:03Author Spotlight: Nuclei Isolation from Mouse Cardiac Progenitor Cells for Epigenome and Gene Expression Profiling at Single-Cell Resolution
Published on: May 12, 2023
