Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies

Abstract Background This paper describes the clinical practice and performance of cell-free DNA sequencing-based non-invasive prenatal testing (NIPT) as a screening method for fetal trisomy 21, 18, 13 (T21, T18, T13) sex chromosome aneuploidies (SCA) in general Italian pregnancy population. Methods The AMES-accredited laboratory offers NIPT maternal blood test T21, T13 SCA. Samples were sequenced on NextSeq 550 (Illumina) using VeriSeq Solution v1 assay. Results A retrospective analysis was performed 36,456 consecutive samples, including 35,650 singleton pregnancies, 800 twin 6 triplet pregnancies. tested between April 2017 September 2019. cohort included 46% elevated-risk 54% low-risk patients. result indicative classic found 356 (1%) or samples: 254 69 33 T13. In addition, 145 results (0.4%) Of combined 501 screen-positive cases, 484 had confirmatory diagnostic testing. confirmed 99.2% (247/249) T21 91.2% (62/68) T18 84.4% (27/32) 86.7% (117/135) SCA cases. 35,955 cases reported unaffected by SCA, no false negative reported. Assuming that would be reported, sensitivity 100.00% (95% Cl 98.47–100.0), 94.17–100.0), 87.54–100.0). specificities 99.99% 99.98–100.0), 99.98% 99.96–100.0), 99.97–100.0), 99.95% 99.92–99.97) T13, respectively. Conclusion large patients who whole-genome trisomies shows excellent detection rates low positive rates.