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 ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era

30 Apr 2019

Abstract excerpt

BACKGROUND: This study evaluates 6 years of prenatal rasopathy testing in the Netherlands, updates on previous data and gives recommendations for prenatal rasopathy testing. METHODS: 424 fetal samples, sent in for prenatal rasopathy testing in 2011-2016, were collected. Cohort 1 included 231 samples that were sequenced for 1-5 rasopathy genes. Cohort 2 included 193 samples that were analysed with a 14-gene next...

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 Parvovirus B19 Infection Studies
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31040167
DOI: 10.1136/jmedgenet-2018-105746

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS eraPMID 31040167Read ↗

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections.Semantic proximity Read ↗

Microarray and RASopathy‐disorder testing in fetuses with increased nuchal translucencySemantic proximity Read ↗

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.Semantic proximity Read ↗

Fetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding—A Comprehensive ReviewSemantic proximity Read ↗

RASopathies : A significant cause of polyhydramnios?Semantic proximity Read ↗

Progressive non-immune hydrops fetalis associated with RASA1 mutation: prenatal imaging and genomic insights.Semantic proximity Read ↗

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort studySemantic proximity Read ↗

Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data.Semantic proximity Read ↗

The role of next‐generation sequencing in the investigation of ultrasound‐identified fetal structural anomaliesSemantic proximity Read ↗

Genetic etiology and obstetric outcome analysis of fetal cystic hygroma in a single-center studySemantic proximity Read ↗

Next Generation Sequencing after Invasive Prenatal Testing in Fetuses with Congenital Malformations: Prenatal or Neonatal InvestigationSemantic proximity Read ↗

Prenatal Whole-exome Sequencing in a Russian Clinical Cohort: Diagnostic Yield, Indications, and Spectrum of Molecular FindingsSemantic proximity Read ↗

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