Table 1.
Performance Parameters of Noninvasive Screening Tests for Fetal Trisomy 21
| Risk Factor/Biomarkera | GA (wks) | Sensitivity (%) | Screen Positive (%) | Specificity | DRb (for a 5% FPR) (%) | FPRc (for an 85% DR) (%) | Study |
|---|---|---|---|---|---|---|---|
| Age ≥ 35 y | — | 30 | 5 | 1 in 100 | 30–50 | 48–55 | ACOG,9 Driscoll DA et al,10 Haddow JE et al,19 Wald NJ et al,25 Wald NJ et al,26 Wapner R et al.28 |
| First trimester risk assessment | 11–14 | 82–87 | 5 | 1 in 25 | 79–90 | 5–9 | ACOG,9 Driscoll DA et al,10 Malone FD et al,20 Nicolaides KH,22 Spencer K et al,24 Wald NJ et al,26 Wapner R et al.28 |
| Second trimester serum analyte (quad) screen | 15–20 | 80 | 5 | 1 in 40 | 75–85 (only ∼ 50% for twins) | 5–10 | ACOG,9 Driscoll DA et al,10 Benn PA et al,18 Malone FD et al,20 Neveux LM et al,21 Wald NJ et al,26 Wald NJ et al.27 |
| Integrated screen | 11–20 | 94–97 | 4–5 | 1 in 30 | 90–96 | 1–5 | Driscoll DA et al,10 Malone FD et al,20 Platt LD et al,23 Wald NJ et al,26 Wald NJ et al,27 Wright D et al,29 Cuckle H et al,63 Palomaki GE et al.64 |
| Cell-free DNA — MPSS | > 10 | 98.6–100 | — | 97.9–99.8 | — | — | Fan HC et al,72 Palomaki GE et al,73 Fan and Quake,74 Chiu RW et al,76 Bianchi DW et al,77 Palomaki GE et al,78 Chen EZ et al,79 Sehnert AJ et al,84 Ehrich M et al,100 Liao GJ et al.101 |
| — Targeted sequencing + DANSR 1 FORTE | > 10 | 100 | — | 99.7–100 | — | — | Sparks AB et al,75 Sparks AB et al,80 Ashoor G et al.86 |
| — Targeted sequencing + PS | > 9 | 100 | — | 99.8–100 | — | — | Zimmermann B et al,85 Nicolaides KH et al.92 |
a All serum biomarker results include maternal age
b DR refers to the percentage of affected pregnancies (those with a Down syndrome fetus) called screen-positive by the test. In this table, DR data are reported for a fixed 5% FPR. cFPR refers to the percentage of unaffected (normal) pregnancies called screen-positive by the test. In this table, FPR data are reported for a fixed 85% DR. DANSR, Digital Analysis of Selected Regions; DR, detection rate; FORTE, Fetalfraction Optimized Risk of Trisomy Evaluation; FPR, false-positive rate; GA, gestational age; MPSS, massively parallel shotgun sequencing; PS, Parental Support™ (Natera; San Carlos, CA).