Results 51 to 60 of about 4,910 (169)

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

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
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, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 892-903, May 2026.
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, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source

Situs inversus totalis with azoospermia in a patient presenting with liver abscess [PDF]

Journal of Clinical and Scientific Research, 2014
Situs inversus with dextrocardia is a rare congenital anomaly. Azoospermia and situs inversus may be encountered in ciliary dyskinesia syndromes.
P. Mohan Rao, A. Sridhar, I.V. Renuka, M. Venugopal, C. Aparna   +4 more
doaj   +1 more source

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

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 756-770, May 2026.
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, Alexander Gibbs, Elizabeth Scotchman, Graeme Smith, Lyn S. Chitty, Natalie J. Chandler   +5 more
wiley   +1 more source

Alternative Lead ECG Placements

Annals of Noninvasive Electrocardiology, Volume 31, Issue 3, May 2026.
Alternative ECG lead placements can improve diagnostic yield when the standard 12‐lead ECG is suboptimal or infeasible. This review summarizes practical, scenario‐driven modifications (right‐sided, posterior, seated/prone, Lewis, Fontaine, torso‐based, and monitoring configurations) to better detect ischemia, right ventricular disease/ARVD, and ...
José Luis Morales‐Arteaga, Amin Meghdadi, Derek Wu, Abdullah Bhuiyan, Nicole Langleben, Cengiz Burak, Emily Wilson, Ashley Pellerito, David Aristizábal, Keanu Razzaghi, Juan Maria Farina, Shyla Gupta, Adrian Baranchuk   +12 more
wiley   +1 more source

ECG Diagnosis: Dextrocardia [PDF]

The 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

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, Volume 109, Issue 5, Page 859-868, May 2026.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

Overcoming Mirror Image Anatomy Using Pulse‐Field Energy and Three‐Dimensional Mapping System: Successful Zero‐Fluoroscopy Atrial Fibrillation Ablation Procedure for Situs Inversus

Journal of Arrhythmia, Volume 42, Issue 2, April 2026.
Combining pulse‐field ablation with a 3D mapping system allowed a safe, zero‐fluoroscopy atrial fibrillation ablation procedure in situs inversus, overcoming catheter loss of catheter orientation due to mirror‐image anatomy.
Tadashi Hoshiyama, Kenji Morihisa, Seitaro Oda, Kenichi Tsujita   +3 more
wiley   +1 more source

Kartagener Syndrome: A Rare Genetic Disorder

Journal of Nepal Medical Association, 2009
Kartagener Syndrome is a rare autosomal recessive disorder consisting of triad of sinusitis, bronchiectasis and situs inversus with dextrocardia. It is the subset of disorder called primary ciliary dyskinesia in which the cilia have abnormal structure ...
Kunjan Shakya
doaj   +1 more source

Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis

Birth Defects Research, Volume 118, Issue 3, March 2026.
ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam, Helen E. Ritchie, Margaret P. Adam, Bengt R. Danielsson   +3 more
wiley   +1 more source