Results 51 to 60 of about 8,062 (214)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Thoracic Abnormalities

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aims to identify the imaging findings specifically for thoracic anomalies in 1200 Micro‐CT cases, independent of whether the abnormality contributed to the main diagnosis or cause of death. Method We analyzed 1200 Micro‐CT scans in an unselected, consecutive cohort between 2017 and 2024 to identify thoracic anomalies ...
Ian C. Simcock   +5 more
wiley   +1 more source

Successful Transradial Coronary Angioplasty in a Patient with Dextrocardia [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2019
Even though dextrocardia occurs rarely, these people have similar incidence of coronary artery disease like normal population. Because of unfamiliarity with the reverse anatomy transradial coronary angiography and angioplasty is seldom tried in these ...
Suindu Keshari Narayan Dash   +2 more
doaj   +1 more source

Colecistectomia laparoscopica in situs viscerum inversus totalis: nota di tecnica [PDF]

open access: yes, 2009
The Authors report the case of a patient admitted in Emergency Room for biliary colic. She knew her dextrocardia. ECG and chest X-ray confirmed the dextrocardia.
Di Luna, G.   +5 more
core  

Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]

open access: yes, 2019
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A   +9 more
core   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani   +17 more
wiley   +1 more source

Dextrocardia with situs inversus totalis: coronary artery bypass grafting [PDF]

open access: yes, 2012
Dextrocardia with situs inversus is a rare congenital abnormality involving a left-handed mal rotation of the visceral organs. The incidence of coronary artery disease is the same as that in the general population.
Anis, Mariam, Darr, Umer, Hashmi, Salila
core   +1 more source

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim   +5 more
wiley   +1 more source

ECG Diagnosis: Dextrocardia [PDF]

open access: yesThe Permanente Journal, 2019
Dextrocardia with situs inversus (also referred to as situs inversus totalis) is a rare congenital anomaly whereby the position of the abdominal and thoracic viscera are reversed.1 The occurrence of this congenital anomaly has been reported to range between 1/6000 to 1/35000 live births and affects males and females equally.2 The affected population ...
Cameron, Mozayan, Joel T, Levis
openaire   +2 more sources

Quisto Pericárdico Gigante a Imitar Dextrocardia na Telerradiografia de Tórax [PDF]

open access: yes, 2013
Pericardial cysts are rare benign congenital malformations, usually small, asymptomatic and detected incidentally on chest X-ray as a mass located in the right costophrenic angle.
Abreu, J   +5 more
core  

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