Results 151 to 160 of about 330,544 (344)

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

Quality of Life After Heart Transplantation for Congenital Heart Defect. [PDF]

open access: yesTranspl Int, 2022
Martens S   +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

open access: yesPrenatal 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   +9 more
wiley   +1 more source

Parents' quality of life and health after treatment decision for a fetus with severe congenital heart defect. [PDF]

open access: yesJ Pediatr Nurs, 2023
Delaney RK   +8 more
europepmc   +1 more source

Achievements in congenital heart defect surgery: a prospective, 40-year study of 7038 patients.

open access: yesCirculation, 2015
G. Erikssen   +10 more
semanticscholar   +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

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

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