Test performance and clinical utility of expanded non-invasive prenatal test: Experience on 71,883 unselected routine cases from one single center

Monica Faieta; Rossella Falcone; Sara Duca; Elena Corsetti; Riccardo Giannico; Laura Gigante; Laura Diano; Graziella Calugi; Francesca Spinella; Francesca Pizzuti

doi:10.1002/pd.6580

Test performance and clinical utility of expanded non-invasive prenatal test: Experience on 71,883 unselected routine cases from one single center

Prenat Diagn. 2024 Apr 30. doi: 10.1002/pd.6580. Online ahead of print.

Authors

Affiliations

¹ Department of NIPT, Eurofins Genoma Group, Rome, Italy.
² Department of Genetic Counselling, Eurofins Genoma Group, Rome, Italy.
³ Department of Bioinformatics, Eurofins Genoma Group, Rome, Italy.
⁴ Department of Research and Development, Eurofins Genoma Group, Rome, Italy.

PMID: 38686956
DOI: 10.1002/pd.6580

Abstract

Objective: The balance between benefits and risks of discordant outcomes makes the Genome-Wide Non-Invasive Prenatal Test (GW-NIPT) controversial. This study aims to evaluate performance and clinical utility in a wide cohort of unselected clinical cases from a single center when a standardized protocol is applied and integrated with a secondary algorithm for data interpretation.

Method: In 2 years, over 70,000 pregnant patients underwent GW-NIPT for fetal common trisomies, sex chromosome aneuploidies, rare autosomal aneuploidies, segmental abnormalities (CNVs ≥ 7 Mb) and microdeletions (CNVs < 7 Mb). All samples were uniformly processed with Veriseq NIPT Solution v2 and analyzed using all data metrics along with a home-made algorithm for sequencing data analysis. Results were retrospectively reviewed for clinical outcomes.

Results: Among 71,883 eligible cases including twin pregnancies, 1011 (1.4%) received a positive result and 781 were confirmed by invasive prenatal diagnosis. Clinical sensitivity ranged from 99.65% for common trisomy (T21, T18, T13) to 83.33% for microdeletions, while specificity remained high (99.98%) for each class of fetal abnormalities detected.

Conclusions: Integrating a standardized protocol with an internal algorithm allowed discordant results to be reduced, yielding high accuracy. Observed reliability in detecting genome-wide chromosomal conditions reinforced the expanded NIPT utility in clinical practice.