Results 181 to 190 of about 109,251 (302)

Perinatal death in pig models of hypertrophic cardiomyopathy carrying sarcomere pathogenic variants. [PDF]

open access: yesJ Mol Cell Cardiol Plus
Flisikowska T   +11 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

518: Emergency facilities and the risk of perinatal death at term due to intrapartum anoxia [PDF]

open access: bronze, 2007
Dhamintra Pasupathy   +4 more
openalex   +1 more source

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner   +11 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

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies. [PDF]

open access: yesGenome Med
Mattioli F   +22 more
europepmc   +1 more source

Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To determine whether invasive genetic testing should be systematically proposed in cases of FGR. Methods Descriptive retrospective study of 159 FGR cases (defined by an estimated fetal growth < 3rd percentile, regardless of Doppler findings) managed at the Toulouse Fetal Medicine Center (TFMC) during 2022–2023.
Maud Langeois   +5 more
wiley   +1 more source

Home - About - Disclaimer - Privacy