Results 171 to 180 of about 132,089 (282)

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

The Sooner, the Better: Neuroprotective Strategies in Fetuses With Congenital Heart Disease

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most frequent congenital malformation at birth and is associated with neurodevelopmental impairments. Alterations in cardiovascular physiology can lead to reduced cerebral blood perfusion and oxygenation, which negatively affects brain growth and maturation.
Maaike Nijman   +7 more
wiley   +1 more source

A Clearer Picture: Using Fetal MRI to Diagnose Neck Masses and Predict Airway Compromise

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Introduction Fetal neck masses are rare but can be life‐threatening if causing airway compromise. Early and accurate diagnosis of these masses allows life‐saving interventions to be undertaken at birth in the form of the EXIT procedure. Methods A single institution case series of all patients referred for fetal MRI to a tertiary center in the ...
Louise Wilson   +2 more
wiley   +1 more source

Global, Regional, and National Epidemiology of Pediatric Stroke, 1990–2021: A Systematic Analysis From the Global Burden of Disease Study

open access: yesPediatric Discovery, EarlyView.
In 2021, the burden of pediatric stroke varied substantially across countries and regions. China and India had the highest prevalence, while India and Nigeria accounted for disproportionately high DALYs, indicating greater health loss per case. Marked geographic disparities underscore the need for region‐specific strategies.
Zhao Yang   +6 more
wiley   +1 more source

Standardized vaccination practices for preterm infants: Egyptian experts' consensus. [PDF]

open access: yesBMC Infect Dis
Beleidy AE   +17 more
europepmc   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

open access: yesPediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo   +18 more
wiley   +1 more source

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