questionsmedicales.fr
Maladies de l'appareil respiratoire
Tumeurs de l'appareil respiratoire
Tumeurs de la plèvre
Épanchement pleural malin
Épanchement pleural malin : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Épanchement pleural
Diagnostic médical
Analyse du liquide
Cytologie
Thoracocentèse
Épanchement pleural
Scanner
Épanchement pleural
Symptômes
5
Essoufflement
Douleur thoracique
Examen physique
Asymétrie thoracique
Symptômes
Épanchement léger
Prévention
5
Prévention
Dépistage du cancer
Vaccination
Infections pulmonaires
Soins palliatifs
Qualité de vie
Traitements
5
Chimiothérapie
Drain pleural
Drainage pleural
Épanchement récurrent
Chimiothérapie
Tumeurs malignes
Effets secondaires
Infections
Radiothérapie
Épanchement pleural
Complications
5
Infection
Insuffisance respiratoire
Douleurs thoraciques
Douleurs chroniques
Infection
Drainage pleural
Facteurs de risque
5
Facteurs de risque
Tabagisme
BPCO
Maladies pulmonaires
Exposition professionnelle
Amiante
{
"@context": "https://schema.org",
"@graph": [
{
"@type": "MedicalWebPage",
"name": "Épanchement pleural malin : Questions médicales les plus fréquentes",
"headline": "Épanchement pleural malin : Comprendre les symptômes, diagnostics et traitements",
"description": "Guide complet et accessible sur les Épanchement pleural malin : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.",
"datePublished": "2024-06-28",
"dateModified": "2025-03-25",
"inLanguage": "fr",
"medicalAudience": [
{
"@type": "MedicalAudience",
"name": "Grand public",
"audienceType": "Patient",
"healthCondition": {
"@type": "MedicalCondition",
"name": "Épanchement pleural malin"
},
"suggestedMinAge": 18,
"suggestedGender": "unisex"
},
{
"@type": "MedicalAudience",
"name": "Médecins",
"audienceType": "Physician",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "France"
}
},
{
"@type": "MedicalAudience",
"name": "Chercheurs",
"audienceType": "Researcher",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "International"
}
}
],
"reviewedBy": {
"@type": "Person",
"name": "Dr Olivier Menir",
"jobTitle": "Expert en Médecine",
"description": "Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale",
"url": "/static/pages/docteur-olivier-menir.html",
"alumniOf": {
"@type": "EducationalOrganization",
"name": "Université Paris Descartes"
}
},
"isPartOf": {
"@type": "MedicalWebPage",
"name": "Tumeurs de la plèvre",
"url": "https://questionsmedicales.fr/mesh/D010997",
"about": {
"@type": "MedicalCondition",
"name": "Tumeurs de la plèvre",
"code": {
"@type": "MedicalCode",
"code": "D010997",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "C08.785.640"
}
}
},
"about": {
"@type": "MedicalCondition",
"name": "Épanchement pleural malin",
"alternateName": "Pleural Effusion, Malignant",
"code": {
"@type": "MedicalCode",
"code": "D016066",
"codingSystem": "MeSH"
}
},
"author": [
{
"@type": "Person",
"name": "Najib M Rahman",
"url": "https://questionsmedicales.fr/author/Najib%20M%20Rahman",
"affiliation": {
"@type": "Organization",
"name": "Laboratory of Pleural and Lung Cancer Translational Research, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7FZ, United Kingdom; Oxford Centre for Respiratory Medicine, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, United Kingdom."
}
},
{
"@type": "Person",
"name": "Hans-Stefan Hofmann",
"url": "https://questionsmedicales.fr/author/Hans-Stefan%20Hofmann",
"affiliation": {
"@type": "Organization",
"name": ""
}
},
{
"@type": "Person",
"name": "Michael Ried",
"url": "https://questionsmedicales.fr/author/Michael%20Ried",
"affiliation": {
"@type": "Organization",
"name": ""
}
},
{
"@type": "Person",
"name": "Chang Ho Kim",
"url": "https://questionsmedicales.fr/author/Chang%20Ho%20Kim",
"affiliation": {
"@type": "Organization",
"name": "Department of Internal Medicine, School of Medicine, Kyungpook National University, Daegu, Korea."
}
},
{
"@type": "Person",
"name": "Jae Kwang Lim",
"url": "https://questionsmedicales.fr/author/Jae%20Kwang%20Lim",
"affiliation": {
"@type": "Organization",
"name": "Department of Radiology, School of Medicine, Kyungpook National University, Daegu, Korea."
}
}
],
"citation": [
{
"@type": "ScholarlyArticle",
"name": "A Genetic Revolution: Cancer Genetic Testing and Counseling.",
"datePublished": "2023-06-01",
"url": "https://questionsmedicales.fr/article/37195154",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": null
}
},
{
"@type": "ScholarlyArticle",
"name": "Prenatal genetic testing 1: screening tests.",
"datePublished": "2022-09-09",
"url": "https://questionsmedicales.fr/article/36081381",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1097/MOP.0000000000001172"
}
},
{
"@type": "ScholarlyArticle",
"name": "Prenatal genetic testing 2: diagnostic tests.",
"datePublished": "2022-09-09",
"url": "https://questionsmedicales.fr/article/36081360",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1097/MOP.0000000000001174"
}
},
{
"@type": "ScholarlyArticle",
"name": "Elective genetic testing: Genetics professionals' perspectives and practices.",
"datePublished": "2022-12-27",
"url": "https://questionsmedicales.fr/article/36575824",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1002/jgc4.1666"
}
},
{
"@type": "ScholarlyArticle",
"name": "Genetic Testing in Parkinson's Disease.",
"datePublished": "2023-06-27",
"url": "https://questionsmedicales.fr/article/37365908",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1002/mds.29500"
}
}
],
"breadcrumb": {
"@type": "BreadcrumbList",
"itemListElement": [
{
"@type": "ListItem",
"position": 1,
"name": "questionsmedicales.fr",
"item": "https://questionsmedicales.fr"
},
{
"@type": "ListItem",
"position": 2,
"name": "Maladies de l'appareil respiratoire",
"item": "https://questionsmedicales.fr/mesh/D012140"
},
{
"@type": "ListItem",
"position": 3,
"name": "Tumeurs de l'appareil respiratoire",
"item": "https://questionsmedicales.fr/mesh/D012142"
},
{
"@type": "ListItem",
"position": 4,
"name": "Tumeurs de la plèvre",
"item": "https://questionsmedicales.fr/mesh/D010997"
},
{
"@type": "ListItem",
"position": 5,
"name": "Épanchement pleural malin",
"item": "https://questionsmedicales.fr/mesh/D016066"
}
]
}
},
{
"@type": "MedicalWebPage",
"name": "Article complet : Épanchement pleural malin - Questions et réponses",
"headline": "Questions et réponses médicales fréquentes sur Épanchement pleural malin",
"description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.",
"datePublished": "2025-05-01",
"inLanguage": "fr",
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Diagnostic",
"headline": "Diagnostic sur Épanchement pleural malin",
"description": "Comment diagnostiquer un épanchement pleural malin ?\nQuels tests sont utilisés pour analyser le liquide pleural ?\nQuels signes radiologiques indiquent un épanchement pleural ?\nQuelle est l'importance de la thoracocentèse ?\nPeut-on détecter un épanchement pleural par scanner ?",
"url": "https://questionsmedicales.fr/mesh/D016066?mesh_terms=Genetic+Testing#section-diagnostic"
},
{
"@type": "MedicalWebPage",
"name": "Symptômes",
"headline": "Symptômes sur Épanchement pleural malin",
"description": "Quels sont les symptômes d'un épanchement pleural malin ?\nL'épanchement pleural peut-il causer de la fièvre ?\nComment l'épanchement pleural affecte-t-il la respiration ?\nY a-t-il des signes visibles d'épanchement pleural ?\nPeut-on avoir des symptômes sans épanchement visible ?",
"url": "https://questionsmedicales.fr/mesh/D016066?mesh_terms=Genetic+Testing#section-symptômes"
},
{
"@type": "MedicalWebPage",
"name": "Prévention",
"headline": "Prévention sur Épanchement pleural malin",
"description": "Comment prévenir l'épanchement pleural malin ?\nLes vaccinations peuvent-elles aider ?\nEst-il possible de prévenir les récidives ?\nLe mode de vie influence-t-il le risque ?\nLes soins palliatifs peuvent-ils prévenir l'épanchement ?",
"url": "https://questionsmedicales.fr/mesh/D016066?mesh_terms=Genetic+Testing#section-prévention"
},
{
"@type": "MedicalWebPage",
"name": "Traitements",
"headline": "Traitements sur Épanchement pleural malin",
"description": "Quels traitements sont disponibles pour l'épanchement pleural malin ?\nQuand utilise-t-on un drain pleural ?\nLa chimiothérapie est-elle efficace pour l'épanchement malin ?\nQuels sont les effets secondaires des traitements ?\nPeut-on traiter l'épanchement pleural par radiothérapie ?",
"url": "https://questionsmedicales.fr/mesh/D016066?mesh_terms=Genetic+Testing#section-traitements"
},
{
"@type": "MedicalWebPage",
"name": "Complications",
"headline": "Complications sur Épanchement pleural malin",
"description": "Quelles complications peuvent survenir avec un épanchement pleural malin ?\nL'épanchement pleural peut-il causer des douleurs chroniques ?\nComment l'épanchement pleural affecte-t-il la qualité de vie ?\nPeut-on développer une infection après un drainage ?\nQuelles sont les conséquences d'une fibrose pleurale ?",
"url": "https://questionsmedicales.fr/mesh/D016066?mesh_terms=Genetic+Testing#section-complications"
},
{
"@type": "MedicalWebPage",
"name": "Facteurs de risque",
"headline": "Facteurs de risque sur Épanchement pleural malin",
"description": "Quels sont les principaux facteurs de risque d'épanchement pleural malin ?\nL'âge influence-t-il le risque d'épanchement pleural ?\nLes maladies pulmonaires chroniques sont-elles un facteur de risque ?\nLe sexe joue-t-il un rôle dans le risque d'épanchement ?\nL'exposition professionnelle peut-elle augmenter le risque ?",
"url": "https://questionsmedicales.fr/mesh/D016066?mesh_terms=Genetic+Testing#section-facteurs de risque"
}
]
},
{
"@type": "FAQPage",
"mainEntity": [
{
"@type": "Question",
"name": "Comment diagnostiquer un épanchement pleural malin ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un diagnostic se fait par échographie, thoracocentèse et analyse du liquide pleural."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour analyser le liquide pleural ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les tests incluent la cytologie, la culture et les marqueurs tumoraux."
}
},
{
"@type": "Question",
"name": "Quels signes radiologiques indiquent un épanchement pleural ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les radiographies montrent une opacité pleurale et l'échographie révèle la quantité de liquide."
}
},
{
"@type": "Question",
"name": "Quelle est l'importance de la thoracocentèse ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "La thoracocentèse permet de retirer le liquide et d'obtenir un échantillon pour analyse."
}
},
{
"@type": "Question",
"name": "Peut-on détecter un épanchement pleural par scanner ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le scanner thoracique est très efficace pour visualiser les épanchements pleuraux."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes d'un épanchement pleural malin ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent essoufflement, douleur thoracique et toux persistante."
}
},
{
"@type": "Question",
"name": "L'épanchement pleural peut-il causer de la fièvre ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une infection associée peut provoquer de la fièvre avec l'épanchement."
}
},
{
"@type": "Question",
"name": "Comment l'épanchement pleural affecte-t-il la respiration ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il peut réduire la capacité pulmonaire, entraînant une dyspnée et une fatigue."
}
},
{
"@type": "Question",
"name": "Y a-t-il des signes visibles d'épanchement pleural ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un gonflement du thorax ou une asymétrie peuvent être visibles à l'examen physique."
}
},
{
"@type": "Question",
"name": "Peut-on avoir des symptômes sans épanchement visible ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des symptômes peuvent apparaître même avec un épanchement léger ou modéré."
}
},
{
"@type": "Question",
"name": "Comment prévenir l'épanchement pleural malin ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention passe par le dépistage précoce des cancers et un suivi médical régulier."
}
},
{
"@type": "Question",
"name": "Les vaccinations peuvent-elles aider ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les vaccins contre certaines infections pulmonaires peuvent réduire le risque."
}
},
{
"@type": "Question",
"name": "Est-il possible de prévenir les récidives ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un suivi régulier et un traitement approprié des cancers peuvent aider à prévenir les récidives."
}
},
{
"@type": "Question",
"name": "Le mode de vie influence-t-il le risque ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un mode de vie sain, sans tabac, peut réduire le risque de cancers et d'épanchements."
}
},
{
"@type": "Question",
"name": "Les soins palliatifs peuvent-ils prévenir l'épanchement ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les soins palliatifs visent à améliorer la qualité de vie et peuvent aider à gérer les symptômes."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour l'épanchement pleural malin ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements incluent la thoracocentèse, les drains pleuraux et la chimiothérapie."
}
},
{
"@type": "Question",
"name": "Quand utilise-t-on un drain pleural ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un drain est utilisé pour évacuer le liquide en cas d'épanchement important ou récurrent."
}
},
{
"@type": "Question",
"name": "La chimiothérapie est-elle efficace pour l'épanchement malin ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elle peut réduire la taille des tumeurs et diminuer l'épanchement."
}
},
{
"@type": "Question",
"name": "Quels sont les effets secondaires des traitements ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les effets secondaires peuvent inclure fatigue, nausées et infections."
}
},
{
"@type": "Question",
"name": "Peut-on traiter l'épanchement pleural par radiothérapie ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la radiothérapie peut être utilisée pour réduire l'épanchement dans certains cas."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec un épanchement pleural malin ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent l'infection, la fibrose pleurale et l'insuffisance respiratoire."
}
},
{
"@type": "Question",
"name": "L'épanchement pleural peut-il causer des douleurs chroniques ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des douleurs thoraciques persistantes peuvent survenir à cause de l'épanchement."
}
},
{
"@type": "Question",
"name": "Comment l'épanchement pleural affecte-t-il la qualité de vie ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il peut entraîner une fatigue, une dyspnée et une limitation des activités quotidiennes."
}
},
{
"@type": "Question",
"name": "Peut-on développer une infection après un drainage ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, il existe un risque d'infection après une thoracocentèse ou un drainage pleural."
}
},
{
"@type": "Question",
"name": "Quelles sont les conséquences d'une fibrose pleurale ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "La fibrose pleurale peut limiter l'expansion pulmonaire et aggraver la dyspnée."
}
},
{
"@type": "Question",
"name": "Quels sont les principaux facteurs de risque d'épanchement pleural malin ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents de cancer, le tabagisme et l'exposition à des agents cancérigènes augmentent le risque."
}
},
{
"@type": "Question",
"name": "L'âge influence-t-il le risque d'épanchement pleural ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le risque augmente avec l'âge, surtout chez les personnes de plus de 65 ans."
}
},
{
"@type": "Question",
"name": "Les maladies pulmonaires chroniques sont-elles un facteur de risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des maladies comme la BPCO augmentent le risque d'épanchement pleural."
}
},
{
"@type": "Question",
"name": "Le sexe joue-t-il un rôle dans le risque d'épanchement ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains cancers liés à l'épanchement peuvent être plus fréquents chez un sexe."
}
},
{
"@type": "Question",
"name": "L'exposition professionnelle peut-elle augmenter le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exposition à l'amiante ou à d'autres substances toxiques est un facteur de risque."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 25/03/2025
Contenu vérifié selon les dernières recommandations médicales
8 publications dans cette catégorie
Affiliations :
Laboratory of Pleural and Lung Cancer Translational Research, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7FZ, United Kingdom; Oxford Centre for Respiratory Medicine, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, United Kingdom.
3 publications dans cette catégorie
Publications dans "Épanchement pleural malin" :
3 publications dans cette catégorie
Publications dans "Épanchement pleural malin" :
3 publications dans cette catégorie
Affiliations :
Department of Internal Medicine, School of Medicine, Kyungpook National University, Daegu, Korea.
Publications dans "Épanchement pleural malin" :
3 publications dans cette catégorie
Affiliations :
Department of Radiology, School of Medicine, Kyungpook National University, Daegu, Korea.
Publications dans "Épanchement pleural malin" :
3 publications dans cette catégorie
Affiliations :
Department of Internal Medicine, School of Medicine, Kyungpook National University, Daegu, Korea.
Publications dans "Épanchement pleural malin" :
3 publications dans cette catégorie
Affiliations :
Department of Internal Medicine, School of Medicine, Kyungpook National University, Daegu, Korea.
Publications dans "Épanchement pleural malin" :
3 publications dans cette catégorie
Affiliations :
Department of Internal Medicine, School of Medicine, Kyungpook National University, Daegu, Korea.
Publications dans "Épanchement pleural malin" :
3 publications dans cette catégorie
Affiliations :
Department of Internal Medicine, School of Medicine, Kyungpook National University, Daegu, Korea.
Publications dans "Épanchement pleural malin" :
3 publications dans cette catégorie
Affiliations :
Institute for Respiratory Health and Centre for Respiratory Health, School of Biomedical Sciences, University of Western Australia, Nedlands, WA 6009, Australia.
Department of Respiratory Medicine, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.
Publications dans "Épanchement pleural malin" :
3 publications dans cette catégorie
Affiliations :
Department of Medicine, Vanderbilt University, Nashville, Tennessee.
Publications dans "Épanchement pleural malin" :
3 publications dans cette catégorie
Affiliations :
Research Group of Cancer Biomarkers, Biomedical Research Institute of Lleida (IRBLleida), 25198 Lleida, Spain.
Pleural Medicine Unit, Department of Internal Medicine, Arnau de Vilanova University Hospital (HUAV), 25198 Lleida, Spain.
Publications dans "Épanchement pleural malin" :
2 publications dans cette catégorie
Affiliations :
Academic Respiratory Unit, University of Bristol, Bristol, UK.
Publications dans "Épanchement pleural malin" :
2 publications dans cette catégorie
Publications dans "Épanchement pleural malin" :
2 publications dans cette catégorie
Publications dans "Épanchement pleural malin" :
2 publications dans cette catégorie
Affiliations :
Division of Pulmonary and Critical Care Medicine, Johns Hopkins University, 1800 Orleans Street, Suite 7-125, Baltimore, MD 21287, USA. Electronic address: dfk@jhmi.edu.
Publications dans "Épanchement pleural malin" :
2 publications dans cette catégorie
Affiliations :
Department of Physiology, Faculty of Medicine, University of Patras, Rio, Achaia 26504, Greece; Lungs for Living Research Centre, UCL Respiratory, University College London, London WC1E 6BT, United Kingdom; Laboratory of Pleural and Lung Cancer Translational Research, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7FZ, United Kingdom; Oxford Centre for Respiratory Medicine, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, United Kingdom.
Publications dans "Épanchement pleural malin" :
2 publications dans cette catégorie
Affiliations :
Department of Radiology, School of Medicine, Kyungpook National University, Daegu, Korea.
Publications dans "Épanchement pleural malin" :
2 publications dans cette catégorie
Affiliations :
Department of Internal Medicine, School of Medicine, Kyungpook National University, Daegu, Korea.
Publications dans "Épanchement pleural malin" :
2 publications dans cette catégorie
Affiliations :
Department of Internal Medicine, School of Medicine, Kyungpook National University, Daegu, Korea.
Publications dans "Épanchement pleural malin" :
Genetic counseling is a relatively young profession that has advanced rapidly over the last 50 years. The term "genetic counseling" was first coined by Sheldon Reed in 1947 to describe the advice he w...
Prenatal genetic testing can be divided into two categories: screening and diagnostic. This article will focus on reviewing prenatal genetic screening tests....
Cell-free DNA (cfDNA) is a new prenatal genetic screening test with a high degree of accuracy for identifying certain genetic conditions like trisomy 21, 18, and 13. However, cfDNA has also been appli...
Prenatal genetic screening evaluates at risk pregnancies - including both carrier screening, which can be done at any point in a person's life, and aneuploidy screening, which is done during pregnancy...
Prenatal genetic testing can be divided into two categories: screening and diagnosis. Prenatal genetic screening tests are used to assess carrier status or as a fetal risk assessment for a particular ...
Next generation sequencing (NGS) has revolutionized prenatal genetic diagnostic testing. NGS methods are becoming more advanced and accurate as more genetic information is being linked to genetic cond...
Prenatal genetic diagnostic testing involves clinicians invasively obtaining tissue via amniocentesis or chorionic villus sampling to identify if a fetus has a genetic condition. This testing has trad...
Elective genetic testing (EGT) to identify disease risk in individuals who may or may not meet clinical criteria for testing is increasingly being offered in clinical practice. However, little is know...
Genetic testing for persons with Parkinson's disease is becoming increasingly common. Significant gains have been made regarding genetic testing methods, and testing is becoming more readily available...
There are thousands of different clinical genetic tests currently available. Genetic testing and its applications continue to change rapidly for multiple reasons. These reasons include technological a...
This article considers a number of key issues and axes related to the current and future state of clinical genetic testing, including targeted versus broad testing, simple/Mendelian versus polygenic a...
Genetic testing is expanding and evolving, including into new clinical applications. Developments in the field of genetics will likely result in genetic testing becoming increasingly in the purview of...
Implementation of genetic testing in healthcare increases, but access to, and number of, genetics providers remain scarce. This study analyzed the impact of genetic counselor (GC) involvement on frequ...
To evaluate the feasibility and impact of offering genetic testing and counseling to patients with Parkinson's disease (PD), with the potential to enroll in gene-targeted clinical trials and improve c...
A multicenter, exploratory pilot study at 7 academic hospital sites in the United States tracked enrollment and randomized participants to receive results and genetic counseling at local sites or by g...
From September 5, 2019 to January 4, 2021, 620 participants were enrolled and 387 completed outcome surveys. There were no significant differences in outcomes between local and remote sites, with both...
Local clinicians, as well as genetic counselors, with educational support as needed, can effectively return genetic results for PD as we observed favorable outcome measures in both groups. Increasing ...
Clinical guidelines recommend genetic testing when evaluating congenital and late-onset sensorineural hearing loss (SNHL). Genetic diagnoses can provide parents additional information regarding antici...
We included children ages 0-18 years with SNHL who were hearing aid or cochlear implant candidates but non-users and underwent hearing-loss gene panel testing prior to initiating intervention. Univari...
Of the 385 children with SNHL who underwent hearing loss gene panel testing, 111 were included. Median age was 7.5 years. 56% were underrepresented minorities, 71% were non-White, and 71% were publicl...
Up to half of children with SNHL are suspected to have an underlying genetic etiology. Children diagnosed with a genetic diagnosis are significantly more likely to subsequently utilize hearing aids or...
4 Laryngoscope, 133:1982-1986, 2023....
Leukodystrophies are monogenic disorders primarily affecting the white matter. We aimed to evaluate the utility of genetic testing and time-to-diagnosis in a retrospective cohort of children with susp...
Medical records of patients who attended the leukodystrophy clinic at the Dana-Dwek Children's Hospital between June 2019 and December 2021 were retrieved. Clinical, molecular, and neuroimaging data w...
Sixty-seven patients (Female/Male ratio 35/32) were included. Median age at symptom onset was 9 months (interquartile range (IQR) 3-18 months), and median length of follow-up was 4.75 years (IQR 3-8.5...
NGS carries the highest diagnostic yield in children with suspected leukodystrophy. Access to advanced sequencing technologies accelerates speed to diagnosis, which is increasingly crucial as targeted...