Results 131 to 140 of about 59,480 (283)

Most costly and prevalent reasons for hospitalization in children with medical complexity in Ontario, Canada

open access: yesJournal of Hospital Medicine, Volume 21, Issue 5, Page 495-505, May 2026.
Abstract Background and Objectives Children with medical complexity (CMC) have chronic health conditions often associated with functional limitations. CMC comprise 1%–5% of the pediatric population. In Canada, their care accounts for one‐third of pediatric health spending.
Erin Hessey   +25 more
wiley   +1 more source

Hybrid approach for hypoplastic left heart syndrome and its variants: the fate of the pulmonary arteries [PDF]

open access: yes, 2017
OBJECTIVES To analyse the results of hybrid palliation of hypoplastic left heart syndrome (HLHS) patients and its variants with an emphasis on the long-term fate of the pulmonary arteries.
Dave, Hitendu   +5 more
core  

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

open access: yesPrenatal 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   +7 more
wiley   +1 more source

Foetal echocardiographic assessment of borderline small left ventricles can predict the need for postnatal intervention [PDF]

open access: yes, 2017
Background We sought to prospectively determine foetal echocardiographic factors associated with neonatal interventions in borderline hypoplastic left ventricles.
Atiyah, Merna   +8 more
core  

Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease. [PDF]

open access: yes, 2020
Pre-B cell leukemia factor 1 (PBX1) is an essential developmental transcription factor, mutations in which have recently been associated with CAKUTHED syndrome, characterized by multiple congenital defects including congenital heart disease (CHD). During
Alankarage, Dimuthu   +9 more
core   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

open access: yesPrenatal Diagnosis, Volume 46, Issue 5-6, Page 623-635, May 2026.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear   +7 more
wiley   +1 more source

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

open access: yes
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1427-1430, June 2026.
Alberto De Rosa   +7 more
wiley   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

open access: yesPrenatal 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   +17 more
wiley   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

open access: yesPrenatal Diagnosis, Volume 46, Issue 5-6, Page 914-923, May 2026.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao   +13 more
wiley   +1 more source

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