ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Benefits and barriers to broad implementation of genomic sequencing in the NICU.American journal of human genetics · 2025Pooled it
- Citywide implementation of a rapid whole-genome sequencing program for critically ill pediatric patients.Nature medicine · 2026Article
- Rapid genomic sequencing in the NICU: Who to test and why.European journal of human genetics : EJHG · 2026Review
- Genomic testing in the neonatal intensive care unit: a 5-year retrospective single-centre study from a tertiary care hospital in Bengaluru, India.European journal of pediatrics · 2026Observational
- Cost analysis of hospitalized children suspected of rare genetic diseases.Orphanet journal of rare diseases · 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
- Integrating the Continuum of Genetic Testing From Fetus to Neonate: A Review of Prenatal Genetic Testing and the Overlap With Newborn Testing.Prenatal diagnosis · 2025Review
- Transforming NICU care: rapid WES and transcriptomics-validation, social impact, and cost analysis.European journal of pediatrics · 2025Article
- Diagnostic delay in monogenic disease: A scoping review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Article
- The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China.Frontiers in pediatrics · 2024Article
- Health-related quality of life in patients with diverse rare diseases: An online survey.Genetics in medicine open · 2024Article
- Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units.Journal of perinatology : official journal of the California Perinatal Association · 2023Review
- Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.Journal of personalized medicine · 2023Article
- Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.European journal of pediatrics · 2023Article
- Implications of Genomic Newborn Screening for Infant Mortality.International journal of neonatal screening · 2023Article
- Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.JAMA network open · 2023Article
- The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths.Frontiers in medicine · 2023Article
- Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome.Journal of genetic counseling · 2022Article
Corrections and comments
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Authors and funding
7 authors.
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Abstract
purposeInfants admitted to a level IV neonatal intensive care unit (NICU) who do not survive early childhood are a population that is probably enriched for rare genetic disease; we therefore characterized their genetic diagnostic evaluation.
methodsThis is a retrospective analysis of infants admitted to our NICU between 1 January 2011 and 31 December 2015 who were deceased at the time of records review, with age at death less than 5 years.
resultsA total of 2,670 infants were admitted; 170 later died. One hundred six of 170 (62%) had an evaluation for a genetic or metabolic disorder. Forty-seven of 170 (28%) had laboratory-confirmed genetic diagnoses, although 14/47 (30%) diagnoses were made postmortem. Infants evaluated for a genetic disorder spent more time in the NICU (median 13.5 vs. 5.0 days; p = 0.003), were older at death (median 92.0 vs. 17.5 days; p < 0.001), and had similarly high rates of redirection of care (86% vs. 79%; p = 0.28).
conclusionGenetic disorders were suspected in many infants but found in a minority. Approximately one-third of diagnosed infants died before a laboratory-confirmed genetic diagnosis was made. This highlights the need to improve genetic diagnostic evaluation in the NICU, particularly to support end-of-life decision making.
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