ArticleJournal of perinatology : official journal of the California Perinatal Association2019
Infant mortality: the contribution of genetic disorders.
Article in Journal of perinatology : official journal of the California Perinatal Association, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 1 of them a synthesis that pooled it.
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.
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.
Who cites it
54 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
- An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.American journal of human genetics · 2020Trial
- Diagnosis Through Whole Genome Sequencing and Care Utilization in Children With Severe Illness.JAMA network open · 2026Observational
- First-Trimester Bilateral Choanal Atresia as a Marker of a De Novo Pathogenic KMT2D Variant Associated With BCAHH Syndrome.Prenatal diagnosis · 2026Article
- Citywide implementation of a rapid whole-genome sequencing program for critically ill pediatric patients.Nature medicine · 2026Article
- Rehabilitation approaches used for children with spinal muscular atrophy: A scoping review based on the F-words framework.Journal of pediatric rehabilitation medicine · 2026Article
- Genetic profiling enhances cystic fibrosis prenatal diagnosis.Scientific reports · 2026Article
- 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
- 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
- Application of chromosomal microarray analysis and trio whole-exome sequencing in first-trimester prenatal diagnosis for high-risk pregnancies.BMC pregnancy and childbirth · 2026Article
- Rare and resilient: Longer-term experiences of families after genetic evaluation in the neonatal intensive care unit.Genetics in medicine open · 2026Article
- A child of congenital muscular dystrophy-dystroglycanopathy with a novel variant in theTranslational pediatrics · 2025Article
- Transforming NICU care: rapid WES and transcriptomics-validation, social impact, and cost analysis.European journal of pediatrics · 2025Article
- Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of Precision Medicine.Children (Basel, Switzerland) · 2025Review
- Early Intervention services in the era of genomic medicine: setting a research agenda.Pediatric research · 2025Review
- Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group.Prenatal diagnosis · 2025Review
- Saliva Sample-Based Non-Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang.Molecular genetics & genomic medicine · 2025Article
- Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.Orphanet journal of rare diseases · 2024Article
- In Search of Spinal Muscular Atrophy Disease Modifiers.International journal of molecular sciences · 2024Review
- A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2024Article
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
objectiveTo determine the proportion of infant deaths occurring in the setting of a confirmed genetic disorder. STUDY
designA retrospective analysis of the electronic medical records of infants born from 1 January, 2011 to 1 June, 2017, who died prior to 1 year of age.
resultsFive hundred and seventy three deceased infants were identified. One hundred and seventeen were confirmed to have a molecular or cytogenetic diagnosis in a clinical diagnostic laboratory and an additional seven were diagnosed by research testing for a total of 124/573 (22%) diagnosed infants. A total of 67/124 (54%) had chromosomal disorders and 58/124 (47%) had single gene disorders (one infant had both). The proportion of diagnoses made by sequencing technologies, such as exome sequencing, increased over the years.
conclusionsThe prevalence of confirmed genetic disorders within our cohort of infant deaths is higher than that previously reported. Increased efforts are needed to further understand the mortality burden of genetic disorders in infancy.
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