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Genetic Evaluation Practices for Neonates With Congenital Heart Disease

Genetic Evaluation Practices for Neonates With Congenital Heart Disease 1024 614 Pam Georgiana
abstract art of magnifying glass over DNA strand

Multi-institutional survey reveals wide variation in cardiac testing and care.

Advances in genomic medicine have significantly improved the understanding of congenital heart disease etiology. However, the integration of genetic evaluation into neonatal cardiac critical care remains inconsistent.

A recent multi-institutional study, led by Amee M. Bigelow, MD, and Vidu Garg, MD, both from Nationwide Children’s Hospital, examines current genetic testing practices across pediatric Cardiac Intensive Care Units (CICUs) in the United States. The results highlight the need for standardized guidelines and expanded genomic infrastructure.

The study, published in Pediatric Cardiology, surveyed 118 centers participating in the Society of Thoracic Surgeons Congenital Heart Surgery Database. Investigators evaluated institutional protocols, testing strategies and access to genetic expertise.

Approximately 40% of surveyed institutions responded, revealing substantial variability in the genetic evaluation of neonates with congenital heart disease. Although most respondents recognized the clinical importance of genetic testing, only 32% reported having formal institutional protocols in place. Many centers relied on case-by-case decision-making rather than standardized pathways.

“As a pediatric cardiac intensivist, I’ve observed considerable variability in genetic evaluation of neonatal cardiovascular patients,” says Dr. Bigelow, who is the medical director of the Cardiothoracic Intensive Care Unit at Nationwide Children’s. “Without consistent approaches, it is difficult to understand how genetic variation influences outcomes or predict long-term health for these patients.”

The survey’s two-tier design captured both institutional practices and clinical implementation. In Tier 1, 50 CICU medical directors reported that genetic testing was performed in approximately 58% of neonatal congenital heart disease cases. However, consultation with genetic specialists occurred in fewer than one-third (28%) of cases.

Tier 2 responses from 46 genetic providers within the same institutions revealed variation in testing based on clinical presentation. Genetic evaluation occurred more frequently in syndromic congenital heart disease (54%) than in isolated cardiac defects (46%). Access to cardiac-specific genetic expertise remained limited, with only 42% of respondents reporting dedicated providers.

Comprehensive testing modalities such as exome sequencing and genome sequencing were rarely used as first-line evaluations. Fewer than 12% of the centers reported using these approaches. Instead, most centers rely on traditional chromosome-based testing methods. These findings uncover a gap between scientific capability and real-world clinical adoption.

“Our ability to analyze the human genome has evolved from identifying only major chromosomal abnormalities to now sequencing entire genomes and detecting single-gene variants,” says Dr. Garg, who is co-director of The Heart Center and director of the Center for Cardiovascular Research at Nationwide Children’s. He is also the Nationwide Foundation endowed chair in Cardiovascular Research at Nationwide Children’s. “However, the clinical infrastructure required to utilize and translate these discoveries into early neonatal diagnosis and management has not kept pace.”

Genetic factors are estimated to contribute to up to 40% of congenital heart disease cases. The investigators emphasize that identifying genetic variants can support more individualized care by improving diagnostic precision, informing perioperative decision-making and helping clinicians better anticipate disease course and long-term outcomes. Genetic findings can also guide recurrence risk counseling and cascade testing for at-risk family members.

Barriers to broader adoption include limited access to in-house genomic testing, variability in provider familiarity with test interpretation and logistical challenges related to cost, insurance coverage and turnaround time. However, the investigators note that the absence of professional society guidelines remains a significant driver of practice variability and diagnostic evaluation inequities.

“As genomic tools become more accessible, integrating them into routine CICU evaluation pathways will be essential to advancing precision medicine in congenital heart disease,” says Dr. Bigelow.

Dr. Garg adds, “A thorough understanding of genetic contributions to congenital heart disease will help clinicians individualize treatment, anticipate associated conditions and improve long-term outcomes.”

 

References:

  1. Bigelow AM, Krawczeski CD, Kistler I, Spayde K, Willoughby A, White P, Chaudhari BP, Geddes GC, Wilson SD, Garg V. Genetic evaluation practices for neonates with congenital heart disease in pediatric cardiac intensive care units: Findings from a multi-institutional survey. Pediatric Cardiology. 20 Nov 2025. Epub ahead of print.
  2. Yasuhara J, Garg V. Genetics of congenital heart disease: a narrative review of recent advances and clinical implications. Translational Pediatrics. 2021;10(9):2366-2386.

Image credit: Adobe Stock

About the author

Pam Georgiana is a brand marketing professional and writer located in Bexley, Ohio. She believes that words bind us together as humans and that the best stories remind us of our humanity. She specialized in telling engaging stories for healthcare, B2B services, and nonprofits using classic storytelling techniques. Pam has earned an MBA in Marketing from Capital University in Columbus, Ohio.

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