ArticleThe Journal of pediatrics2022
The Genomics of Congenital Diaphragmatic Hernia: A 10-Year Retrospective Review.
Article in The Journal of pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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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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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.
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Who cites it
9 citing papers in PubMed, 22 citations in OpenAlex.
- Congenital heart disease and congenital diaphragmatic hernia: the role of intracardiac shunts.Journal of perinatology : official journal of the California Perinatal Association · 2026Article
- Integrative analysis of scRNA-seq and RNA-seq to investigate the prognostic value of lactylation and fibroblast-related genes in intrahepatic cholangiocarcinoma.Scientific reports · 2025Article
- Genetic burden and multidimensional predictors in prenatal diagnosis of fetal congenital diaphragmatic hernia.Human genetics · 2025Article
- Observed/Expected Lung-To-Head Ratio and Total Lung Volumes That Identify Fetuses With Severe Congenital Diaphragmatic Hernia in a North American Fetal Center.Prenatal diagnosis · 2025Article
- Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.American journal of human genetics · 2024Article
- Effects of 1.5-T versus 3-T magnetic resonance imaging in fetuses: is there a difference in postnatal neurodevelopmental outcome? Evaluation in a fetal population with left-sided congenital diaphragmatic hernia.Pediatric radiology · 2023Article
- Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.American journal of medical genetics. Part A · 2022Article
- Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.American journal of medical genetics. Part A · 2022Review
- Cellular, molecular, and metabolic aspects of developing lungs in congenital diaphragmatic hernia.Frontiers in pediatrics · 2022Review
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo evaluate genetic testing use in infants with congenital diaphragmatic hernia (CDH) over the past decade to better inform future practices and individualize prognostication and management. STUDY
designA retrospective cohort study was performed of all infants with CDH enrolled in the Pulmonary Hypoplasia Program at Children's Hospital of Philadelphia, born between January 2011 and February 2021. For each infant, demographic information, prenatal and postnatal history, and genetic testing were reviewed.
resultsThe charts of 411 infants were analyzed. Overall, 22% (n = 89) were complex/syndromic and 78% (n = 322) were isolated/nonsyndromic. Mortality was significantly higher in complex/syndromic infants (P < .001) and in infants with diagnostic genetic testing (P < .001). Microarray was diagnostic in 9% (n = 34/399) and exome sequencing was diagnostic in 38% (n = 15/39). Genetic testing was diagnostic in 57% (n = 51/89) of complex/syndromic infants, but in only 2% of isolated/nonsyndromic infants (n = 8/322). Overall, genetic testing was diagnostic in 14% (n = 56).
conclusionsThe high diagnostic rate in this cohort highlights the utility of comprehensive genetic testing in infants with CDH. However, 43% of complex/syndromic and 98% of isolated/nonsyndromic infants do not have a genetic etiology identified. This finding underscores the need for additional genetic and genomic studies (eg, whole genome, RNA sequencing) to identify novel genes and mutational mechanisms (single genes, regulatory elements, complex traits) that will allow for improved diagnostic rates and ultimately individualized management of infants with CDH.
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