Abnormal Microarray, Clinical Outcomes, and Surgical Risk Scores in Young Children with Cardiac Disease

McAfee, Kelsey; Rosenow, Will; Cherny, Sara; Collins, Catherine A.; Balmert, Lauren C.; Webster, Gregory

doi:10.1007/s00246-021-02664-4

Cited by 1 publication

(2 citation statements)

References 15 publications

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“…Inpatient programs must consider the potential benefits, costs, and limitations of inpatient CHD genetic testing and define specific priorities of genetics evaluations. Some recent studies highlight utility of early genetic diagnoses in the course of CHD inpatient care, especially surrounding perioperative medical management [6,20,21].…”

Section: Discussionmentioning

confidence: 99%

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Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing

Helm,

Ware

2024

Genes

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Extracardiac anomalies (ECAs) are strong predictors of genetic disorders in infants with congenital heart disease (CHD), but there are no prior studies assessing performance of ECA status as a screen for genetic diagnoses in CHD patients. This retrospective cohort study assessed this in our comprehensive inpatient CHD genetics service focusing on neonates and infants admitted to the intensive care unit (ICU). The performance and diagnostic utility of using ECA status to screen for genetic disorders was assessed using decision curve analysis, a statistical tool to assess clinical utility, determining the threshold of phenotypic screening by ECA versus a Test-All approach. Over 24% of infants had genetic diagnoses identified (n = 244/1013), and ECA-positive status indicated a 4-fold increased risk of having a genetic disorder. However, ECA status had low–moderate screening performance based on predictive summary index, a compositive measure of positive and negative predictive values. For those with genetic diagnoses, nearly one-third (32%, 78/244) were ECA-negative but had cytogenetic and/or monogenic disorders identified by genetic testing. Thus, if the presence of multiple congenital anomalies is the phenotypic driver to initiate genetic testing, 13.4% (78/580) of infants with isolated CHD with identifiable genetic causes will be missed. Given the prevalence of genetic disorders and limited screening performance of ECA status, this analysis supports genetic testing in all CHD infants in intensive care settings rather than screening based on ECA.

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Section: Discussionmentioning

confidence: 99%

“…Several recent studies have shown the benefits of Genes 2024, 15, 505 2 of 24 standardizing genetics evaluations in hospitalized patients with CHD [16][17][18][19]. Improving early diagnosis of genetic disorders can inform diagnosis-specific medical management, individual/family risk assessment, and genetic counseling [4,20,21].…”

Section: Introductionmentioning

confidence: 99%

Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing

Helm,

Ware

2024

Genes

View full text Add to dashboard Cite

show abstract

Abnormal Microarray, Clinical Outcomes, and Surgical Risk Scores in Young Children with Cardiac Disease

Cited by 1 publication

References 15 publications

Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing

Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing

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