Table 21:
Scenario Analysis Results, Inclusion of Sex Chromosome Aneuploidies and 22q11.2 Deletion in First-Tier NIPT
| Scenario | Total Cost (95% CrI), $ | Cases Detected (95% CrI), n | Diagnostic Tests Performed (95% CrI), n | Diagnostic-Procedure-Related Pregnancy Losses (95% CrI), n | Affected Live Births (95% CrI), n | Incremental Cost Per Case Detected, vs. Second-Tier NIPT,a $ |
|---|---|---|---|---|---|---|
| Trisomies and Sex Chromosome Aneuploidies | ||||||
| Trisomies 21, 18, and 13, and sex chromosome aneuploidies (expected prevalence) | 69,137,967 (60,606,739–77,198,825) | All: 456 (396–530) Trisomies 21, 18, 13: 272 (218–335) SCA: 185 (156–215) |
2,696 (2,290–3,203) |
5 (1–10) | All: 339 (302–382) Trisomies 21, 18, and 13: 147 (123–171) SCA: 192 (163–227) |
158,623 |
| Trisomies 21, 18, and 13, and sex chromosome aneuploidies (detected prevalence) | 68,994,511 (60,901,341–76,637,397) | All: 313 (258–378) Trisomies 21, 18, 13: 273 (219–340) SCA: 40 (27–52) |
2,501 (2,098–2,957) |
4 (1–9) | All: 181 (154–211) Trisomies 21, 18, and 13: 146 (122–172) SCA: 35 (22–49) |
339,908 |
| Trisomies and Sex Chromosome Aneuploidies and 22q11.2 Deletion | ||||||
| Trisomies 21, 18, and 13, sex chromosome aneuploidies (expected prevalence) and 22q11.2 deletion (90% detection rate) | 88,748,952 (77,081,835–100,742,353) | All: 531 (468–603) Trisomies 21, 18, 13: 273 (220–334) SCA: 185 (156–215) 22Q: 74 (57–93) |
2,801 (2,392–3,307) |
5 (1–10) | All: 374 (329–420) Trisomies 21, 18, 13: 146 (121–173) SCA: 193 (159–227) 22Q: 36 (24–48) |
181,381 |
| Trisomies 21, 18, and 13, sex chromosome aneuploidies (expected prevalence) and 22q11.2 deletion (75% detection rate) | 88,806,163 (76,749,356–100,783,584) | All: 520 (456–596) Trisomies 21, 18, 13: 273 (225–337) SCA: 186 (157–216) 22Q: 62 (46–77) |
2,791 (2,381–3,303) |
5 (1–9) | All: 378 (333–424) Trisomies 21, 18, 13: 147 (124–170) SCA: 193 (158–227) 22Q: 39 (27–51) |
187,534 |
| Trisomies 21, 18, and 13, sex chromosome aneuploidies (expected prevalence) and 22q11.2 deletion (50% detection rate) | 88,711,674 (76,501,667–100,834,662) | All: 499 (432–572) Trisomies 21, 18, 13: 273 (218–339) SCA: 185 (157–213) 22Q: 42 (30–55) |
2,769 (2,379–3,273) |
5 (1–9) | All: 383 (340–427) Trisomies 21, 18, 13: 146 (123–171) SCA: 192 (161–224) 22Q: 44 (32–58) |
199,667 |
Abbreviations: 22Q, 22q11.2 deletion; CrI, credible interval; DR, detection rate; NIPT, noninvasive prenatal testing; SCA, sex chromosome aneuploidies.
Note: Numbers may appear inexact due to rounding.
We compared first-tier NIPT (including sex chromosome aneuploidies and 22q11.2 deletion) with second-tier NIPT. The cost and effectiveness of first-tier NIPT (including sex chromosome aneuploidies and 22q11.2 deletion) were based on simulations from the scenario analysis, but the cost and effectiveness of second-tier NIPT were based on the results of the reference case analysis. See Table 18 (reference case) for cost and effectiveness outcomes for second-tier NIPT.