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

Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology - 1 Jun 2022

Mone F, Abu Subieh H, Doyle S, Hamilton S, Mcmullan D J, Allen S, Marton T, Williams D, Kilby M D

Abstract excerpt

OBJECTIVES: To determine (1) the diagnostic yield and turnaround time (TAT) of two consecutive prenatal exome sequencing (ES) pathways, (2) the evolution of the fetal phenotype and (3) the clinical impact of detecting causative pathogenic variants and incidental findings. METHODS: This was a retrospective cohort analysis of prospectively collected fetal cases that underwent trio ES in the presence of a structural...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies
Share to Exome

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genomics and Rare Diseases

Share to Phenotype

Share to Pregnancy

Share to Prenatal Diagnosis

Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 34940998
DOI: 10.1002/uog.24842

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study.PMID 34940998Read ↗

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

Lessons learnt from prenatal exome sequencingSemantic proximity Read ↗

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

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

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetusesSemantic proximity Read ↗

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

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

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

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

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

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