ReviewAnnual review of genomics and human genetics2022
The Role of Genome Sequencing in Neonatal Intensive Care Units.
Review in Annual review of genomics and human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 54 papers.
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.
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.
Epidemiology of Surfactant Protein-B Deficiency
Prenatal Precision Medicine (NSIGHT2): A Randomized, Blinded, Prospective Study of the Clinical Utility of Rapid Genomic Sequencing for Infants in the Acute-care Setting
Who cites it
54 citing papers in PubMed.
- 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
- Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder.American journal of human genetics · 2026Article
- Improving infant health equity: what have we learned, what do we do.Pediatric research · 2026Review
- Role of next generation sequencing in neonatal diagnosis and screening.Journal of neuromuscular diseases · 2026Review
- Accelerating genetic diagnosis in the NICU: neonatologist-driven rapid whole genome sequencing.Scientific reports · 2026Article
- Assessment of diagnostic yield and clinical utility of genome sequencing in critically ill infants.Pediatric research · 2026Article
- Article
- Parent- and Intensivist-Reported Utility for Neonatal Genomic Testing.JAMA network open · 2026Article
- Quality improvement initiative to optimize use of rapid genomic sequencing in a level IV NICU.Journal of perinatology : official journal of the California Perinatal Association · 2026Article
- Clinical risk factors predicting likelihood of pathogenic genetic result in NICU patients.Genetics in medicine open · 2026Article
- Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.European journal of human genetics : EJHG · 2026Article
- Development of a comprehensive cardiovascular disease genetic risk assessment test.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
- Genetic disorders and associated morbidity, mortality, and congenital anomalies in preterm infants born at less than 34 weeks of gestation.BMC pediatrics · 2025Observational
- Genome x Environment analysis of Sudden Unexpected Infant Death unveils etiologic heterogeneity and strong cannabis and genetic disease risks.medRxiv : the preprint server for health sciences · 2025Article
- Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.Communications medicine · 2025Article
- Article
- Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic Medicine.The Journal of molecular diagnostics : JMD · 2025Article
- Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit.Prenatal diagnosis · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
Genetic diseases disrupt the functionality of an infant's genome during fetal-neonatal adaptation and represent a leading cause of neonatal and infant mortality in the United States. Due to disease acuity, gene locus and allelic heterogeneity, and overlapping and diverse clinical phenotypes, diagnostic genome sequencing in neonatal intensive care units has required the development of methods to shorten turnaround times and improve genomic interpretation. From 2012 to 2021, 31 clinical studies documented the diagnostic and clinical utility of first-tier rapid or ultrarapid whole-genome sequencing through cost-effective identification of pathogenic genomic variants that change medical management, suggest new therapeutic strategies, and refine prognoses. Genomic diagnosis also permits prediction of reproductive recurrence risk for parents and surviving probands. Using implementation science and quality improvement, deployment of a genomic learning healthcare system will contribute to a reduction of neonatal and infant mortality through the integration of genome sequencing into best-practice neonatal intensive care.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.