Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Exome sequencing as first‐tier test for fetuses with severe central nervous system structural anomalies

1 Mar 2022

Abstract excerpt

OBJECTIVE: Prenatally detected central nervous system (CNS) anomalies present a diagnostic challenge. In this study, we compared the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) in fetuses with a major CNS anomaly. METHODS: This was a retrospective study of 114 cases referred for genetic evaluation following termination of pregnancy (TOP) due to a major CNS anomaly detected...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Fetal and Pediatric Neurological Disorders
Share to Genomic variations and chromosomal abnormalities
Share to Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 35229910
DOI: 10.1002/uog.24885

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome sequencing as first‐tier test for fetuses with severe central nervous system structural anomaliesPMID 35229910Read ↗

Prenatal exome sequencing analysis in fetuses with central nervous system anomaliesSemantic proximity Read ↗

Prenatal Exome Sequencing of Fetuses with Central Nervous System Anomalies Based on Prenatal Ultrasound and Magnetic Resonance Imaging Diagnosis — A Retrospective Cohort Study and System ReviewSemantic proximity Read ↗

Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis.Semantic proximity Read ↗

Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetusesSemantic proximity Read ↗

Genetic diagnostic yield of prenatal testing for fetal central nervous system abnormalities: a phenotype-driven study in a large single-center cohortSemantic proximity Read ↗

Fetal central nervous system anomalies: When should we offer exome sequencing?Semantic proximity Read ↗

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imagingSemantic proximity Read ↗

Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomaliesSemantic proximity Read ↗

Exome sequencing improves genetic diagnosis of congenital orofacial cleftsSemantic proximity Read ↗

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic toolSemantic proximity Read ↗

Application of exome sequencing for prenatal diagnosis: a rapid scoping review.Semantic proximity Read ↗

Population-based, government-funded exome sequencing for fetal abnormalities: a state-wide implementation model for equity and clinical consistencySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.