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Table 4 The SEV, SPC, PPV and NPV of NIPT for fetal SCAs based on BGISEQ-500 sequencing platform

From: The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies

  45,X 47,XXY 47,XXX 47,XYY Total
NIPT high-risk(case) 19 12 10 2 43
TP (case) 7 9 9 1 26
FP (case) 12 3 1 1 17
TN(case) 551 558 560 568 527
FN (case) 0 0 0 0 0
SEV (%) 100% 100% 100% 100% 100%
(95%CI) (59.04–100.00%) (66.37–100.00%) (66.37–100.00%) (2.50–100.00%) (86.77–100.00%)
SPC (%) 97.87% 99.47% 99.82% 99.82% 96.88%
(95%CI) (96.31–98.89%) (98.45–99.89%) (99.01–100.00%) (99.02–100.00%) (95.04–98.17%)
PPV(%) 36.84% 75.00% 90% 50% 60.47%
(95%CI) (25.00–50.52%) (49.25–90.27%) (55.95–98.46%) (12.37–87.63%) (48.93–70.95%)
NPV(%) 100% 100% 100% 100% 100%
Accuracy(%) 97.89% 99.47% 97.89% 99.82% 97.02%
(95%CI) 96.35–98.91% 98.47–99.89% 96.35–98.91% 99.03–100.00% 95.27–98.25%
  1. TP true positive, FP false positive, TN true negative, FN false negative, SEV sensitivity, SPC specificity, PPV Positive predict value, NPV Negative predict value, CI Confidence interval