Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis

GV Blayney, E Laffan, PA Jacob, CD Baptiste… - Prenatal …, 2024 - Wiley Online Library
Objectives Determine the incremental diagnostic yield of prenatal exome sequencing (pES)
over chromosome microarray (CMA) or G‐banding karyotype in fetuses with central nervous …

Advancing fetal diagnosis and prognostication using comprehensive prenatal phenotyping and genetic testing

O Fortin, SB Mulkey, JL Fraser - Pediatric research, 2024 - nature.com
Prenatal diagnoses of congenital malformations have increased significantly in recent years
with use of high-resolution prenatal imaging. Despite more precise radiological diagnoses …

Fetal Cerebral Ventriculomegaly: A Narrative Review and Practical Recommendations for Pediatric Neurologists

S Agarwal, C Venkatesan, B Vollmer, B Scelsa… - Pediatric Neurology, 2024 - Elsevier
Fetal cerebral ventriculomegaly is one of the most common fetal neurological disorders
identified prenatally by neuroimaging. The challenges in the evolving landscape of …

Prenatal diagnosis and pregnancy outcomes in fetuses with ventriculomegaly

F Yue, X Yang, N Liu, R Liu, H Zhang - Frontiers in Medicine, 2024 - frontiersin.org
Objective Genetic etiology plays a critical role in fetal ventriculomegaly (VM). However, the
studies on chromosomal copy number variants (CNVs) in fetal VM are limited. This study …

Application of Whole‐Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities

C Luo, E Wen, Y Liu, H Wang, B Jia… - … Genetics & Genomic …, 2024 - Wiley Online Library
Objective To investigate the clinical value of whole‐exome sequencing (WES) in the
diagnosis of foetuses with central nervous system (CNS) abnormalities but having a normal …

The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies

KEM Diderich, HT Bruggenwirth, M Joosten… - Prenatal …, 2024 - Wiley Online Library
Background The aim of this study was to evaluate the diagnostic yield of routine exome
sequencing (ES) in fetuses with ultrasound anomalies. Methods We performed a …

Medical and early developmental outcomes for patients with congenital ventriculomegaly

A Coronel, KS Bierbrauer, H He, LK Tolusso… - Fetal Diagnosis and …, 2025 - karger.com
Introduction: This study evaluated whether comorbidities such as genetic conditions, other
congenital anomalies, infection, and other exposures impact the mortality rate and/or …

Cerebral Ventriculomegaly. Hydrocephalus

D Di Mascio, I Mappa, F D'Antonio, G Rizzo - Fetal Neurosonography, 2025 - Springer
Fetal cerebral “ventriculomegaly” and congenital “hydrocephalus” are two terms that have
been commonly used indistinctly in the literature. Nonetheless,“ventriculomegaly” usually …

Vaisiaus Centrinės Nervų Sistemos Ultragarsinių Pokyčių Antrąjį Nėštumo Trimestrą Genetinių Priežasčių Analizė

A Balčiūtė - 2024 - search.proquest.com
Uždaviniai: 1. Išanalizuoti vaisiaus centrinės nervų sistemos anomalijų, diagnozuotų antrąjį
nėštumo trimestrą pasireiškimo dažnumą. 2. Įvertinti antrojo nėštumo trimestro ultragarsinio …

[PDF][PDF] VENTRİKÜLOMEGALİ; TANI ve YAKLAŞIM

G Aynaoğlu, KY Yücel, NŞ Uysal - tmftp.org
Ventrikülomegali serebrospinal sıvı basıncının artmasıyla ilişkili olmayan serebral ventriküler
dilatasyonu tanımlamak için kullanılan bir terimdir. Serebrospinal sıvı basıncının artması yani …