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

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

23 Mar 2023

Abstract excerpt

Introduction: Prenatal ultrasound (US) anomalies are detected in around 5%–10% of pregnancies. In prenatal diagnosis, exome sequencing (ES) diagnostic yield ranges from 6% to 80% depending on the inclusion criteria. We describe the first French national multicenter pilot study aiming to implement ES in prenatal diagnosis following the detection of anomalies on US. Patients and methods: We prospectively performed...

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 Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 37035737
DOI: 10.3389/fgene.2023.1099995

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic toolPMID 37035737Read ↗

Trio exome sequencing is highly relevant in prenatal diagnosticsSemantic proximity Read ↗

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

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorderSemantic proximity Read ↗

Diagnostic yield and clinical impact of prenatal whole exome sequencing (WES) - four-year single center experience.Semantic proximity Read ↗

Real-World Application of Trio-Based Exome Sequencing in Prenatal Genetic Diagnosis: a prospective studySemantic proximity Read ↗

Real-World Application of Trio-Based Exome Sequencing in Prenatal Genetic DiagnosisSemantic 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 ↗

Utility of trio‐based prenatal exome sequencing incorporating splice‐site and mitochondrial genome assessment in pregnancies with fetal ultrasound anomalies: prospective cohort studySemantic proximity Read ↗

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy managementSemantic proximity Read ↗

The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomaliesSemantic 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 ↗

High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetusesSemantic proximity Read ↗

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