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

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

6 Oct 2008

Abstract excerpt

We directly sequenced cell-free DNA with high-throughput shotgun sequencing technology from plasma of pregnant women, obtaining, on average, 5 million sequence tags per patient sample. This enabled us to measure the over- and underrepresentation of chromosomes from an aneuploid fetus. The sequencing approach is polymorphism-independent and therefore universally applicable for the noninvasive detection of fetal...

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: 18838674
DOI: 10.1073/pnas.0808319105

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

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal bloodPMID 18838674Read ↗

Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus.Semantic proximity Read ↗

Noninvasive prenatal diagnosis empowered by high‐throughput sequencingSemantic proximity Read ↗

Noninvasive Whole-Genome Sequencing of a Human FetusSemantic proximity Read ↗

Noninvasive fetal genome sequencing: a primerSemantic proximity Read ↗

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA SequencingSemantic proximity Read ↗

Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma.Semantic proximity Read ↗

Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencingSemantic proximity Read ↗

Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal.Semantic proximity Read ↗

Sensitivity of Noninvasive Prenatal Detection of Fetal Aneuploidy from Maternal Plasma Using Shotgun Sequencing Is Limited Only by Counting StatisticsSemantic proximity Read ↗

Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencingSemantic proximity Read ↗

Investigating and Correcting Plasma DNA Sequencing Coverage Bias to Enhance Aneuploidy DiscoverySemantic proximity Read ↗

Noninvasive prenatal detection of fetal trisomy and single gene disease by shotgun sequencing of placenta originated exosome DNA: a proof-of-concept validationSemantic proximity Read ↗

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