Noninvasive prenatal testing in the general obstetric population: clinical performance and counseling considerations in over 85,000 cases

Abstract

Objective

The primary goal of this study was to provide clinically relevant information for appropriate patient counseling.

Method

Demographics and test metrics were reviewed for 86,658 clinical cases. Outcome information was requested for samples reported as aneuploidy detected or suspected for chromosomes 21, 18, or 13; voluntary outcome reporting was encouraged for all discordant outcomes.

Results

Of 86,658 cases, 85,298 (98.4%) met inclusion criteria for result reporting. Of the 1,360 (1.6%) cancellations, only 101 (0.1%) were for technical reasons. Average time to result was 3.3 business days. Aneuploidy was detected or suspected in 2,142 (2.5%) samples. For aneuploidy detected cases with known clinical outcomes, the overall PPV was 83.5% (608/728); observed PPVs for trisomies 21, 18, and 13 ranged from 50.0–92.8%. As individual PPVs are determined by a patient's prior risk, we developed a chart for counseling patients on positive predictive value (PPV) based on maternal age.

Conclusion

This large-scale report reinforces that NIPT is a highly accurate screen for fetal aneuploidy in the general obstetric population. Test improvements have facilitated a reduction in failure rates, time to result, and borderline results/unclassifiable results. We have developed a PPV counseling tool to ensure appropriate patient education, counseling, and clinical utilization. This article is protected by copyright. All rights reserved.

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