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. 2019 Feb 19;19(4):1–166.

Table A3:

Systematic Reviews on NIPT in the Average-Risk or General Population

Author, Year Search Period Databases Included Studies Results
Taylor-Phillips et al, 201619 1997 to Feb 9, 2015 (auto-alerts until April 1, 2015) PubMed, Medline, Embase, Cochrane Library
Trial registries: ClinicalTrials.gov, WHO ICTRP		 6 studies in general population

  • Trisomy 21: sensitivity 95.9%, specificity 99.9%, PPV 82%

  • Trisomy 18: sensitivity 86.5%, specificity 99.8%, PPV 37%

  • Trisomy 13: sensitivity 77.5%, specificity 99.9%, PPV 49%
Iwarsson et al, 201718 To Apr 2, 2015 PubMed, Embase, Cochrane Library 6 studies for average risk of trisomy 21
5 studies for average risk of trisomy 18
5 studies for average risk of trisomy 13

  • Trisomy 21: sensitivity 99.3% (95% CI, 95.5%–99.9%), specificity 99.9% (95% CI, 99.8%–99.9%), GRADE moderate

  • Pooled sensitivity and specificity for trisomy 18 and 13 were not calculated because of the low number of studies
Badeau et al, 201716 January 2007 to July 12, 2016 Medline, Embase, Web of Science, Cochrane Register of Diagnostic Test Accuracy Studies, Cochrane Library, ClinicalTrials.gov, European Clinical Trials Register, WHO ICTRP, National Technical Information Service, OpenGrey, National Guideline Clearing House 5 studies in general unselected pregnant population

  • TMPS sensitivity:

    • ○ Trisomy 21: 99.2% (95% CI, 78.2%–100%)

    • ○ Trisomy 18: 90.9% (95% CI, 70.0%–97.7%)

    • ○ Trisomy 21: 65.1% (95% CI, 9.16%–97.2%)

  • TMPS specificity for trisomies 21, 18, and 13: >99.9%

  • Sex chromosome aneuploidies: unable to perform meta-analysis because of limited data
Varela-Lema et al, 201717 Inception to February/March 2017 Centre for Reviews and Dissemination, Cochrane Library Plus, Medline, Embase, Web of Science 8 studies in general population Trisomy 21: sensitivity 99.3% (95% CI, 97.8%–99.8%), specificity 99.9% (95% CI, 99.8%–99.9%)
Trisomy 18: sensitivity 97.4% (95% CI, 94.4%–98.8%), specificity 99.9% (95% CI, 99.87%–99.97%)
Trisomy 13: sensitivity 98.8% (95% CI, 1.41%–100%), specificity 99.9% (95% CI, 99.94%–99.97%)

Abbreviations: CI, confidence interval; NIPT, noninvasive prenatal testing; PPV, positive predictive value; TMPS, targeted massively parallel sequencing; WHO ICTRP, World Health Organization International Clinical Trials Registry Platform.