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 capture-based method of prenatal cell-free DNA screening for autosomal recessive non-syndromic hearing loss.

Prenatal diagnosis - 1 Aug 2024

Mu Qian, Bai Ling, Xu Bing, Du Huawen, Jiang Zhaoyun, Huang Shasha, Gao Bo, Wu Qixi, Zhao Hanqing, Dai Pu, Jiang Yi

Abstract excerpt

OBJECTIVE: This study aimed to develop and validate a prenatal cell-free DNA (cfDNA) screening method that uses capture-based enrichment to genotype fetal autosomal recessive disorders. This method was applied in pregnancies at high risk of autosomal recessive non-syndromic hearing loss (ARNSHL) to assess its accuracy and effectiveness. METHODS: This assay measured the allele counts in both white blood cell DNA...

Read the complete abstract on PubMed

Topics

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

Share to Cell-Free Nucleic Acids
Share to Connexin 26

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Genotype

Share to Hearing Loss

Share to Polymorphism, Single Nucleotide

Share to Pregnancy

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 38488843
DOI: 10.1002/pd.6550

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A capture-based method of prenatal cell-free DNA screening for autosomal recessive non-syndromic hearing loss.PMID 38488843Read ↗

A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.Semantic proximity Read ↗

Development and validation of a fetal genotyping assay with potential for noninvasive prenatal diagnosis of hereditary hearing loss.Semantic proximity Read ↗

Targeted linked-read sequencing for direct haplotype phasing of parental GJB2/SLC26A4 alleles: A universal and dependable noninvasive prenatal diagnosis method applied to autosomal recessive nonsyndromic hearing loss in at-risk familiesSemantic proximity Read ↗

Single-Molecule Counting for Noninvasive Prenatal Diagnosis of Autosomal Recessive Hearing Loss in at-Risk Families: A Proof-of-Concept Study.Semantic proximity Read ↗

Exploration of a Novel Noninvasive Prenatal Testing Approach for Monogenic Disorders Based on Fetal Nucleated Red Blood CellsSemantic proximity Read ↗

Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimesterSemantic proximity Read ↗

A method for non-invasive prenatal diagnosis of monogenic autosomal recessive disordersSemantic proximity Read ↗

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.Semantic proximity Read ↗

Targeted Linked-Read Sequencing for Direct Haplotype Phasing of Parental GJB2/SLC26A4 Alleles: A Universal and Dependable Noninvasive Prenatal Diagnosis Method Applied to Autosomal Recessive Nonsyndromic Hearing Loss in At-Risk Families.Semantic proximity Read ↗

One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR.Semantic proximity Read ↗

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

Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.Semantic proximity Read ↗

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