ReviewPrenatal diagnosis2022
Underlying genetic etiologies of congenital diaphragmatic hernia.
Review in Prenatal diagnosis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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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Who cites it
13 citing papers in PubMed, 25 citations in OpenAlex.
- Dysregulated circRNA expression profile and associated miRNA sponging in abnormal lung development in congenital diaphragmatic hernia.Clinical and translational medicine · 2026Article
- How Epigenetics Bridges Genes and Environment: A Multiomics Evidence Chain in Congenital Diaphragmatic Hernia.Birth defects research · 2026Review
- Society for Maternal-Fetal Medicine Consult Series #75: Evaluation and management of non-immune hydrops fetalis.Pregnancy (Hoboken, N.J.) · 2026Article
- Contribution of omics to the pathophysiology of diaphragmatic hernias: a narrative review.European journal of pediatrics · 2025Review
- Review
- Article
- Ultrasonographic diagnosis of secondary cardiac position alterations led by fetal thoraco-abdominal anomalies: a report of three cases.Translational pediatrics · 2025Article
- Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.American journal of human genetics · 2024Article
- Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia.Prenatal diagnosis · 2022Article
- Evidence-Based Genetic Testing for Individuals with Congenital Diaphragmatic Hernia.The Journal of pediatrics · 2022Article
- Non-Invasive Detection of a De Novo Frameshift Variant ofJournal of clinical medicine · 2022Article
- Use of Prostaglandin E1 in the Management of Congenital Diaphragmatic Hernia-A Review.Frontiers in pediatrics · 2022Review
- Prenatal Isolated Congenital Diaphragmatic Hernia: A Rare Clinical Presentation of aPediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyArticle
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Congenital diaphragmatic hernia (CDH) is often detectable prenatally. Advances in genetic testing have made it possible to obtain a molecular diagnosis in many fetuses with CDH. Here, we review the aneuploidies, copy number variants (CNVs), and single genes that have been clearly associated with CDH. We suggest that array-based CNV analysis, with or without a chromosome analysis, is the optimal test for identifying chromosomal abnormalities and CNVs in fetuses with CDH. To identify causative sequence variants, whole exome sequencing (WES) is the most comprehensive strategy currently available. Whole genome sequencing (WGS) with CNV analysis has the potential to become the most efficient and effective means of identifying an underlying diagnosis but is not yet routinely available for prenatal diagnosis. We describe how to overcome and address the diagnostic and clinical uncertainty that may remain after genetic testing, and review how a molecular diagnosis may impact recurrence risk estimations, mortality rates, and the availability and outcomes of fetal therapy. We conclude that after the prenatal detection of CDH, patients should be counseled about the possible genetic causes of the CDH, and the genetic testing modalities available to them, in accordance with generally accepted guidelines for pretest counseling in the prenatal setting.
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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.