Results 141 to 150 of about 64,543 (306)

Prenatal detection and outcome of major heart defects in a country with universal screening

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective To evaluate the Danish prenatal screening program for major fetal congenital heart defects (mCHD), focusing on incidence, detection rates (DRs), pregnancy outcomes and postnatal mortality. Methods This was a 5‐year nationwide cohort study conducted from January 2018 to December 2022 in Denmark.
C. Vedel, J. Steensberg, O. B. Petersen, H. Andersen, M. Barbosa, M. Christiansen, V. Gjørup, A. N. Jensen, K. Munk, K. Nyborg, A. W. Olesen, F. Ravn, L. Sperling, H. G. H. Thyregod, N. Vejlstrup, C. K. Ekelund   +15 more
wiley   +1 more source

Heart Rate Variability in Interatrial Septal Defect [PDF]

Novosti Khirurgii, 2017
O.L. Bockeria, K.A. Vulf, V.A. Shvartz
openaire   +1 more source

Impact of socioeconomic status and remoteness of residence on pregnancy outcome in major congenital heart disease: mediation analysis

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective Increased remoteness of residence (RoR) and lower socioeconomic status (SES) negatively impact the rate and gestational age (GA) at the diagnosis of major congenital heart disease (mCHD). We examined the direct and indirect relationships of RoR from a tertiary fetal cardiology center and Chan SES index with the rate of termination of
S. Bennett, L. K. Hornberger, A. Kaur, D. Fruitman, L. G. Eckersley   +4 more
wiley   +1 more source

How to facilitate ultrasound examination of the fetal heart: the 5‐4‐3‐2‐1 method

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT We propose a new standardized, systematic method of fetal cardiac screening, the step‐by‐step ‘5‐4‐3‐2‐1’ method. This method is based on understanding the cardiac structures through a process of navigating between the different recommended views during an abdominothoracic sweep, following a user‐friendly checklist to identify the main ...
M. Levy, B. Stos
wiley   +1 more source

The morphologic variability in atrioventricular valvar atresia [PDF]

, 2008
Anderson, RH, Ho, SY, Rigby, ML
core   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Unravelling the Genetic Mechanisms of Litter Traits in a Maternal Line of Pigs

Journal of Animal Breeding and Genetics, EarlyView.
ABSTRACT Reproductive traits related to litter size are the main indicators of reproductive efficiency in pig production and are continuously evaluated for the selection of maternal lines. Several environmental and genetic factors are involved with the development of these traits.
Guilherme Oselame, Suelen Fernandes Padilha, Maurício Egídio Cantão, Jane de Oliveira Peixoto, Aline Zampar, Adriana Mércia Guaratini Ibelli, Luis Orlando Duitama Carreño, Jader Silva Lopes, Pedro Henrique Ferreira Freitas, Marcelo Silva Freitas, Mônica Corrêa Ledur   +10 more
wiley   +1 more source