Results 291 to 300 of about 2,286,837 (350)

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

Prenatal 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, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Concurrent incomplete atrioventricular septal defect and supravalvular mitral stenosis causing heart failure in a 13-year-old cat: a case report. [PDF]

J Vet Med Sci
Harada K, Akita C, Harada H, Kubota H, Sunden Y.   +4 more
europepmc   +1 more source

Fetal Diagnosis of Hypoplastic Left Heart Syndrome With Restrictive Atrial Septum—Atrial Septal Morphology, Associated Lung Disease and Outcomes

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Fetuses with hypoplastic left heart syndrome (HLHS) and restrictive/intact atrial septum (RAS) have high mortality, partly due to pulmonary lymphangiectasia (PL). This study aimed to characterize atrial septal morphology in fetuses with HLHS and RAS and evaluate the impact of fetal intervention on PL and outcomes.
Sofie Dannesbo, Gloria Ho, Mike Seed, Vitor Guerra, Rajiv Chaturvedi, Andrew C. Cook, Niels Vejlstrup, Kasper Iversen, Henning Bundgaard, Lindsay R. Freud   +9 more
wiley   +1 more source

Segmental snare traction technique: A stepwise snaring strategy for helix-fixed leadless pacemaker implantation. [PDF]

HeartRhythm Case Rep
Suzuki Y, Nakamura Y, Miyazaki H, Arai S, Asano T, Shinke T.   +5 more
europepmc   +1 more source

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

Prenatal 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, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Fundamental Anatomy and its Impact on Clinical Practice: The Membranous Septum and Conduction System in TAVI. [PDF]

JACC Case Rep
Espejo-Paeres C, Scotti A, Sánchez-Quintana D, Cabrera JÁ.   +3 more
europepmc   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal 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, 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

Patterns of Segmental Strain of the Left Ventricle in Extremely Premature Infants. [PDF]

Pediatr Rep
Chumarnaya T, Gusarova E, Kosovtsova N, Koltashova S, Solovyova O.   +4 more
europepmc   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source