ArticlePrenatal diagnosis2020
The utility of exome sequencing for fetal pleural effusions.
Article in Prenatal diagnosis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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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
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2021Pooled it
- Genetic diseases underlying a spectrum of fetal effusions.American journal of obstetrics and gynecology · 2025Article
- Mutation update for the ACTN2 gene.Human mutation · 2022Review
- Intrauterine Thoracoamniotic Shunting of Fetal Hydrothorax with the Somatex Intrauterine Shunt: Intrauterine Course and Postnatal Outcome.Journal of clinical medicine · 2022Article
- Tiny Lungs, Big Challenges: Navigating Fetal Pleural Effusion Outcomes, Long Term Follow-up and Implications for Future Pregnancies.Nigerian medical journal : journal of the Nigeria Medical AssociationArticle
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
objectiveWe sought to evaluate the performance of exome sequencing (ES) in determining an underlying genetic etiology for cases of fetal pleural effusions. STUDY
designWe examined a prospective cohort series of fetal pleural effusions visualized sonographically between 1 April 2016 and 31 August 2017. Fetal pleural effusions attributed to twin sharing, anemia, or structural anomalies were excluded, as were all cases with a genetic diagnosis established by karyotype or chromosomal microarray analysis. The remaining cases with pleural effusions of unclear etiology were offered ES. ES was performed by clinical sequencing and/or sequencing under the Baylor-Hopkins Center for Mendelian Genomics' (BHCMG) research platform. All cases were evaluated for novel genes or phenotypic expansion of disease-causing genes.
resultsES was performed on six probands affected by pleural effusions. A pathogenic variant was identified in one case (16.7%). Four additional cases had variants of uncertain significance (VUS) in candidate genes of pathological interest. Neither clinical nor candidate genes were evident in the final case.
conclusionES should be considered in the evaluation of prenatally detected idiopathic pleural effusions when other diagnostic workup for a genetic etiology has failed.
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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.