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Table 1 Comparison between results of NIPS with and without cffDNA enrichment on 1404 clinical samples

From: An enrichment method to increase cell-free fetal DNA fraction and significantly reduce false negatives and test failures for non-invasive prenatal screening: a feasibility study

Method

NIPS without

cffDNA enrichment

NIPS with

cffDNA enrichment

Total

1404

1404

Test failure

10 (0.7%)

1 (0.1%)

Test positive

8

10

True positive

5

5

Test negative

1394

1394

True negative

1397

1399

Sensitivity

100%

95% CI (56.55–100)

100%

95% CI (56.55–100)

Specificity

99.79%

95% CI (99.37–99.93)

99.64%

95% CI (99.17–99.85)

PPV

62.50%

95% CI (30.6–86.3)

50%

95% CI (23.7–76.3)

NPV

100%

95% CI (99.73–100)

100%

95% CI (99.73–100)

  1. NIPS noninvasive prenatal screening, cffDNA cell-free fetal DNA, PPV positive predictive value, NPV negative predictive value