ArticlePediatrics2024
Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants.
Article in Pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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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.
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Who cites it
4 citing papers in PubMed.
- Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Precision medicine and parental experience: a longitudinal study of psychosocial responses to germline genomic results in pediatric oncology.Frontiers in medicine · 2026Article
- Rare and resilient: Longer-term experiences of families after genetic evaluation in the neonatal intensive care unit.Genetics in medicine open · 2026Article
- Managing the Uncertainty of "Precision" While Navigating Goals of Care: A Framework for Collaborative Interpretation of Complex Genomic Testing Results in Critically-Ill Neonates.Children (Basel, Switzerland) · 2025Article
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5 authors.
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Abstract
BACKGROUND AND
objectivesMany genetic conditions present in the NICU, where a diagnostic evaluation is pursued. However, understanding of the impact of a genetic diagnosis on clinical outcomes and health-related quality of life for these infants remains incomplete. We therefore evaluated parent-reported outcomes complemented by clinical outcomes measures over one year for a cohort of infants in the NICU undergoing genetic evaluation.
methodsProspective cohort study evaluating outcomes after genetics consultation in a level IV NICU via parent report and electronic medical record review. Eligible infants were genetically undiagnosed at enrollment. Parent surveys were administered at baseline and 3, 6, and 12 months following enrollment and assessed genetic testing utility as well as parent-reported infant health-related quality of life using the Infant Toddler Quality of Life Questionnaire.
resultsA total of 110 infant-parent pairs were enrolled. Infants had a median age at enrollment of 15 days (interquartile range 8-37.75). At baseline, 74% (81/110) of parents endorsed high importance of finding a genetic diagnosis, but perceived importance significantly decreased over time. Over the study period, 38 infants received a molecular diagnosis per parent report, although this was discordant with electronic medical record review. Identification of a diagnosis did not significantly impact health-related quality of life across most domains, which was lower overall than population norms.
conclusionsA genetic diagnosis is highly desired by parents in the NICU, though waning interest over time for undiagnosed families may reflect parental emotional adaptation and acceptance. Additional supports are needed to improve perceived quality of life.
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