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

Open source non‐invasive prenatal testing platform and its performance in a public health laboratory

31 Mar 2016

Abstract excerpt

OBJECTIVE: The objective of this study was to introduce non-invasive prenatal testing (NIPT) for fetal autosomal trisomies and gender in a Danish public health setting, using semi-conductor sequencing and published open source scripts for analysis. METHODS: Plasma-derived DNA from a total of 375 pregnant women (divided into three datasets) was whole-genome sequenced on the Ion Proton™ platform and analyzed using...

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: 27027563
DOI: 10.1002/pd.4819

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

Open source non‐invasive prenatal testing platform and its performance in a public health laboratoryPMID 27027563Read ↗

Comparative Evaluation of Three Next Generation Sequencing - Based Non-Invasive Prenatal Testing Platforms in a Private South African LaboratorySemantic proximity Read ↗

Performance of a Paired-End Sequencing-Based Noninvasive Prenatal Screening Test in the Detection of Genome-Wide Fetal Chromosomal AnomaliesSemantic proximity Read ↗

Non-invasive prenatal testing of fetal aneuploidies using a new method based on digital droplet PCR and cell free fetal DNASemantic proximity Read ↗

A noninvasive prenatal test pipeline with a well-generalized machine-learning approach for accurate fetal trisomy detection using low-depth short sequence dataSemantic proximity Read ↗

Test performance and clinical utility of expanded non‐invasive prenatal test: Experience on 71,883 unselected routine cases from one single centerSemantic proximity Read ↗

Performance of Cell-Free DNA Sequencing-Based Non-invasive Prenatal Testing: Our Experience on 36456 both Singleton and Multiple Pregnancies.Semantic proximity Read ↗

Clinical Experience of Non-Invasive Prenatal Chromosomal Aneuploidy Testing in 190,277 Patient SamplesSemantic proximity Read ↗

Rare autosomal trisomies on non‐invasive prenatal testing: not as adverse as expectedSemantic 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 trisomies 21, 18 and 13: clinical experience from 146 958 pregnanciesSemantic proximity Read ↗

Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant womenSemantic proximity Read ↗

Clinical Validation of a Non-Invasive Prenatal Test for Genome-Wide Detection of Fetal Copy Number VariantsSemantic proximity Read ↗

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