Evidence map›Paper›PMID 41263974›Full record

ArticlePediatric cardiology2026

Genetic Evaluation Practices for Neonates with Congenital Heart Disease in Pediatric Cardiac Intensive Care Units: Findings from a Multi-institutional Survey.

Amee M Bigelow, Catherine D Krawczeski, Isaac Kistler, Katherine Spayde, Ava Willoughby, Peter White, Bimal P Chaudhari, Gabrielle C Geddes, Sheria D Wilson, Vidu Garg

Abstract readMulticenter Study
PubMed Publisher
In one paragraph

Article in Pediatric cardiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Amee M BigelowThe Heart Center, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA. amee.bigelow@nationwidechildrens.org.ORCID http://orcid.org/0000-0003-1606-9144
Catherine D KrawczeskiThe Heart Center, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA.
Isaac KistlerDepartment of Pediatrics, The Ohio State University, Columbus, OH, USA.
Katherine SpaydeThe Heart Center, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA.
Ava WilloughbyThe Steve and Cindy Rasmussen Institute for Genomic Medicine, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.
Peter WhiteDepartment of Pediatrics, The Ohio State University, Columbus, OH, USA.
Bimal P ChaudhariDepartment of Pediatrics, The Ohio State University, Columbus, OH, USA.
Gabrielle C GeddesDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
Sheria D WilsonDivision of Neonatology, Department of Pediatrics, The Ohio State University, Columbus, OH, USA.
Vidu GargThe Heart Center, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic testing plays an expanding role in pediatric cardiology, particularly in congenital heart disease (CHD). Despite advancements in genomic medicine, no universal guidelines exist for genetic evaluation in CHD, resulting in varied practices, especially within Cardiac Intensive Care Units (CICUs). This study examines genetic evaluation practices for neonates with CHD cared for in pediatric CICUs across the United States. A two-tier survey of CICU medical directors and genetic specialists was distributed via RedCap to 118 centers contributing to the Society of Thoracic Surgeons Congenital Heart Surgery Database. Surveys assessed CICU demographics, genetic evaluation practices, and institutional protocols. Descriptive statistics were analyzed using R. Fifty unique institutions (42%) completed the first-tier survey; 46/50 completed the second-tier. Most (78%) respondents reported dedicated CICUs, but only 32% had formal genetic testing protocols. Tier 1 showed genetic testing was reported in 58% of neonatal CHD cases, the remainder evaluated on a case-by-case basis. Substantial variability existed in both cardiac substrates prompting genetic evaluation and first-line test selection. Only 28% reported consultation with genetic providers for neonatal CHD cases. Tier 2 showed genetic consultation increased to 54% for patients with syndromic CHD, and genetic testing was obtained in 46% of isolated and 61% of syndromic CHD. Access remained limited as only 42% had cardiac-specific genetic providers. Fewer than 12% of institutions used exome or genome as first-line testing. Genetic evaluation in CICUs is highly variable, with underutilization of genetic providers and limited access to advanced testing. Standardized guidelines and consensus statements are needed to improve access, streamline care, optimize outcomes, and enable genome-informed management in CHD.

Indexed as

Genetic TestingHeart Defects, CongenitalIntensive Care Units, PediatricPractice Patterns, Physicians'FemaleHumansInfant, NewbornSurveys and QuestionnairesUnited StatesCardiac intensive care unitClinical genetic practicesCongenital heart diseaseGenetic testingPediatric cardiology

Identifiers

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Read underepoch 390

Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.