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

Clinical experience with non‐invasive prenatal screening for single‐gene disorders

6 Aug 2021

Abstract excerpt

OBJECTIVE: To assess the performance of a non-invasive prenatal screening test (NIPT) for a panel of dominant single-gene disorders (SGD) with a combined population incidence of 1 in 600. METHODS: Cell-free fetal DNA isolated from maternal plasma samples accessioned from 14 April 2017 to 27 November 2019 was analyzed by next-generation sequencing, targeting 30 genes, to look for pathogenic or likely pathogenic...

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: 34358384
DOI: 10.1002/uog.23756

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

Clinical experience with non‐invasive prenatal screening for single‐gene disordersPMID 34358384Read ↗

Single gene non‐invasive prenatal screening for autosomal dominant conditions in a high‐risk cohortSemantic proximity Read ↗

Development and Validation of a Non-invasive cfDNA Assay for Dominant Monogenic Disorders in Pregnancies Stratified by Ultrasound RiskSemantic proximity Read ↗

The clinical implementation of non‐invasive prenatal diagnosis for single‐gene disorders: challenges and progress madeSemantic proximity Read ↗

Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencingSemantic proximity Read ↗

PREIMPLANTATION GENETIC TESTING: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disordersSemantic proximity Read ↗

Non-invasive prenatal diagnosis (NIPD): current and emerging technologiesSemantic proximity Read ↗

Routine Prenatal cfDNA Screening for Autosomal Dominant Single-Gene ConditionsSemantic proximity Read ↗

Non-invasive prenatal testing: a revolutionary journey in prenatal testingSemantic proximity Read ↗

An overview of current prenatal genetic screening and diagnosis guidelinesSemantic proximity Read ↗

Non-invasive prenatal diagnosis of single gene disorders: How close are we?Semantic proximity Read ↗

Recent trends in prenatal genetic screening and testingSemantic proximity Read ↗

Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditionsSemantic proximity Read ↗

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