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

Comprehensive chromosomal abnormality detection: integrating CNV-Seq with traditional karyotyping in prenatal diagnostics

29 Apr 2025

Abstract excerpt

BACKGROUND: This study aimed to evaluate the efficacy of copy number variation sequencing (CNV-Seq) in detecting chromosomal abnormalities in prenatal diagnosis, comparing its performance with traditional karyotype analysis. METHODS: A retrospective analysis was conducted on 1001 prenatal samples collected between April 2021 and December 2023. Samples were analyzed using both CNV-Seq and karyotype analysis. The...

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: 40301840
DOI: 10.1186/s12920-025-02139-y

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

Comprehensive chromosomal abnormality detection: integrating CNV-Seq with traditional karyotyping in prenatal diagnosticsPMID 40301840Read ↗

Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosisSemantic proximity Read ↗

Enhanced Detection of Genetic Abnormalities in High-Risk Pregnancies Using CNV-Seq Compared to KaryotypingSemantic proximity Read ↗

The Diagnostic Utility of Prenatal Microarray in High-Risk Pregnancies: A Single-Center Experience to Enhance Reproductive Care and Risk StratificationSemantic proximity Read ↗

Efficacy of copy-number variation sequencing technology in prenatal diagnosisSemantic proximity Read ↗

The Value of a Comprehensive Genomic Evaluation in Prenatal Diagnosis of Genetic Diseases: A Retrospective StudySemantic proximity Read ↗

Prenatal Whole-Genome Sequencing for Fetal Anomalies: Diagnostic Performance, Challenges, and Clinical Implications.Semantic proximity Read ↗

Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism.Semantic proximity Read ↗

Clinical experience of genome-wide non-invasive prenatal testing as a first-tier screening test in a cohort of 59,771 pregnanciesSemantic proximity Read ↗

Prevalence of chromosomal abnormalities identified by copy number variation sequencing in high-risk pregnancies, spontaneous abortions, and suspected genetic disordersSemantic proximity Read ↗

Combined use of karyotyping and copy number variation sequencing technology in prenatal diagnosisSemantic proximity Read ↗

Chromosomal Abnormalities Detected by Chromosomal Microarray Analysis and Karyotype in Fetuses with Ultrasound AbnormalitiesSemantic proximity Read ↗

Expanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidiesSemantic proximity Read ↗

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