Evaluation of repeat testing of a non‐sequencing based NIPT test on a Finnish general‐risk population. (10th June 2021)

• Record Type: Journal Article
• Authors: Karlsson, Filip; Ahola, Tarja; Dahlberg, Jenny; Prensky, Lawrence; Moilanen, Helena; Spalding, Heli
• Is Part Of: Acta obstetricia et gynecologica Scandinavica. Volume 100:Number 8(2021)
• Page Start: 1497
• Page End: 1500
• Publication Date: 2021-06-10
• Subjects: cell‐free DNA -- non‐invasive prenatal screening -- non‐invasive prenatal testing -- prenatal screening -- prenatal testing -- test failure -- Vanadis; Gynecology -- Periodicals; Pregnancy -- Periodicals; Obstetrics -- Periodicals; 618.05
• DOI: 10.1111/aogs.14125
• Languages: English
• ISSNs: 0001-6349

Abstract

Abstract: Introduction: To evaluate the effect of repeating test failures using an automated, non‐sequencing based non‐invasive prenatal testing test on a general‐risk population in Finland. Material and Methods: A total of 545 samples from women who represent the average‐risk population in Oulu, Finland were analyzed with Vanadis ® non‐invasive prenatal testing. Repeat testing of test failures was performed using a second sample. Results before and after repeat testing were compared with the reference outcome, as determined by clinical examination of neonates. Results: There were eight test failures after first‐pass analysis, representing 1.5% of samples (95% CI 0.6%‐2.9%). Seven out of eight failures could be resolved by analysis of a second sample, thereby reducing the test failure rate from 1.5% to 0.2% (95% CI 0.0%‐1.0%). Conclusions: Repeating test failures with a second plasma sample could significantly reduce the effective failure rate, thereby providing a way to effectively minimize test failures and further improving clinical utility and test performance.