Synthesis of positive plasmas with known chromosomal abnormalities for validation of non-invasive prenatal screening.

ABSTRACT: Non-invasive prenatal screening (NIPS) is a DNA sequencing-based screening test for fetal aneuploidies and possibly other pathogenic genomic abnormalities, such as large deletions and duplications. Validation and quality assurance (QA) of this clinical test using plasmas with and without targeted chromosomal abnormalities from pregnant women as negative and positive controls are required. However, the positive plasma controls may not be available for many laboratories that are planning to establish NIPS. Limited synthetic positive plasmas are commercially available, but the types of abnormalities and the number/quantity of synthetic plasmas for each abnormality are insufficient to meet the minimal requirements for the initial validation. We report here a method of making synthetic positive

SUBMITTER: Qi Z 

PROVIDER: S-EPMC9886268 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature