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Prenat Diagn. 2016 Mar;36(3):237-43. doi: 10.1002/pd.4766. Epub 2016 Jan 27.

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

Author information

1
Illumina, Redwood City, CA, USA.

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 1360 (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 2142 (2.5%) samples. For aneuploidy detected cases with known clinical outcomes, the overall positive predictive value (PPV) was 83.5% (608/728); observed PPVs for trisomies 21, 18, and 13 ranged from 50.0 to 92.8%. As individual PPVs are determined by a patient's prior risk, we developed a chart for counseling patients on positive predictive value based on maternal age.

CONCLUSION:

This large-scale report reinforces that noninvasive prenatal testing 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 positive predictive value counseling tool to ensure appropriate patient education, counseling, and clinical utilization.

PMID:
26715197
PMCID:
PMC4819889
DOI:
10.1002/pd.4766
[Indexed for MEDLINE]
Free PMC Article

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