Genetic Screening of Targeted Region on the Chromosome 22q11.2 in Patients with Microtia and Congenital Heart Defect. [PDF]
Zhu C +6 more
europepmc +1 more source
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]
Martens S +4 more
europepmc +1 more source
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]
Delaney RK +8 more
europepmc +1 more source
Achievements in congenital heart defect surgery: a prospective, 40-year study of 7038 patients.
G. Erikssen +10 more
semanticscholar +1 more source
Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Thoracic Abnormalities
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
Life situation of a caregiver of a child with congenital heart defect and/or other cardiac problems: structure and preliminary validation of a new questionnaire. [PDF]
Kolarczyk E +3 more
europepmc +1 more source
Estimated Number of Infants Detected and Missed by Critical Congenital Heart Defect Screening
E. Ailes, S. Gilboa, M. Honein, M. Oster
semanticscholar +1 more source
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections
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

