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

A robust second‐generation genome‐wide test for fetal aneuploidy based on shotgun sequencing cell‐free DNA in maternal blood

16 Apr 2013

Abstract excerpt

What's already known about this topic? Non‐invasive genome‐wide screening of fetal aneuploidy by shotgun sequencing cell‐free DNA in maternal blood has been shown to effectively identify fetal trisomy 21, but the performance of screening for other aneuploidies is variable. What does this study add? Optimizing all individual steps in the procedure and performing rigorous quality control provides a test capable of...

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: 23592076
DOI: 10.1002/pd.4130

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

A robust second‐generation genome‐wide test for fetal aneuploidy based on shotgun sequencing cell‐free DNA in maternal bloodPMID 23592076Read ↗

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

Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS studySemantic proximity Read ↗

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

Clinical implementation of NIPT – technical and biological challengesSemantic proximity Read ↗

Noninvasive Prenatal Screening for Common Fetal Aneuploidies Using Single-Molecule SequencingSemantic proximity Read ↗

Noninvasive Prenatal Testing for Fetal AneuploidySemantic proximity Read ↗

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and GenomicsSemantic proximity Read ↗

Clinical Perspective of Cell-Free DNA Testing for Fetal AneuploidiesSemantic proximity Read ↗

Non-invasive prenatal diagnostics of aneuploidy using next-generation DNA sequencing technologies, and clinical considerationsSemantic proximity Read ↗

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

European Non‐Invasive Trisomy Evaluation (EU‐NITE) study: a multicenter prospective cohort study for non‐invasive fetal trisomy 21 testingSemantic proximity Read ↗

Analysis of cell‐free <scp>DNA</scp> in maternal blood in screening for fetal aneuploidies: updated meta‐analysisSemantic proximity Read ↗

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