Diagnostic evaluation and clinical utility of C-MoKa for prenatal genetic testing.

ABSTRACT:

Background

C-MoKa (Chromosome Conformation-based Karyotyping) is a novel 3D genome mapping platform, that enables simultaneous detection of structural variations (SVs), aneuploidies, copy number variations (CNVs), and uniparental disomy (UPD) in a single test. However, its performance in routine prenatal diagnosis is still unexplored. This study aimed to comprehensively evaluate the diagnostic performance and clinical utility of C-MoKa in prenatal diagnosis, and to assess its technical concordance with standard of care (SOC) testings in prenatal diagnosis.

Methods

A two-phase study was designed. In phase 1, 56 retrospective participants with known chromosomal abnormalities (CAs) were recruited, and C-MoKa was performed on their cultured amniotic fluid (AF) samples. Concordan

SUBMITTER: Zhou Y 

PROVIDER: S-EPMC13651082 | biostudies-literature | 2026 Jul

REPOSITORIES: biostudies-literature