Results 171 to 180 of about 82,550 (286)

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

open access: yesPrenatal Diagnosis, EarlyView.
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

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin   +12 more
wiley   +1 more source

Analysis of causes of intrauterine growth restriction [PDF]

open access: yes, 2011
Markevych, Vitalii Eduardovych   +4 more
core  

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim   +5 more
wiley   +1 more source

In Vivo Effect of a Synthetic Amniotic Fluid on Fetal Lung and Gastrointestinal Tract: A Pre‐Clinical Rodent Model

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Amnioinfusions in anhydramnios aim to promote fetal lung development, but currently used fluids (Normal Saline [NS], Lactated Ringer's [LR]) fail to mimic the intrauterine environment and increase reactive oxygen species (ROS). We developed a synthetic amniotic fluid (Amnio‐well, AW) designed to reduce intrauterine ROS.
Braxton Forde   +3 more
wiley   +1 more source

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