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

Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay

8 Sept 2023

Abstract excerpt

OBJECTIVE: This study aimed to establish a cell-free fetal DNA (cffDNA) assay using multiplex digital PCR (dPCR) for identifying fetuses at increased risk of 22q11.2 deletion/duplication syndrome. METHODS: Six detection sites and their corresponding probes were designed for the 22q11.2 recurrent region. A dPCR assay for the noninvasive screening of 22q11.2 deletion/duplication syndrome was established. A total of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Congenital heart defects research
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: 37684689
DOI: 10.1186/s13023-023-02903-2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assayPMID 37684689Read ↗

Noninvasive Prenatal Screening for 22q11.2 Deletion/Duplication Syndrome Using multiplex dPCRSemantic proximity Read ↗

Diagnosis of prenatal 22q11.2 duplication syndrome: a two-case study.Semantic proximity Read ↗

Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome.Semantic proximity Read ↗

Performance of a targeted cell-free DNA prenatal test for 22q11.2 deletion in a large clinical cohort.Semantic proximity Read ↗

Prenatal Screening for 22q11.2 Deletion Using a Targeted Microarray-Based Cell-Free DNA TestSemantic proximity Read ↗

Determining the origin of genome aberrations improves the positive predictive value of NIPT for 22q11.2 deletion syndromeSemantic proximity Read ↗

Clinical outcome of subchromosomal events detected by whole‐genome noninvasive prenatal testingSemantic proximity Read ↗

Digital PCR and its applications in noninvasive prenatal testingSemantic proximity Read ↗

The benefits and limitations of cell‐free DNA screening for 22q11.2 deletion syndromeSemantic proximity Read ↗

Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screeningSemantic proximity Read ↗

A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencingSemantic proximity Read ↗

The performance evaluation of NIPT for fetal chromosome microdeletion/microduplication detection: a retrospective analysis of 68,588 Chinese casesSemantic proximity Read ↗

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