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Table 2 The performance of expanded NIPT in screening for T21, T18, T13, SCAs, RATs, and CNVs

From: Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases

Expanded NIPT result TP FP TN FN Sensitivity
(95% CI)
Specificity
(95% CI)
PPV
(95% CI)
NPV
(95% CI)
T21 139 14 18,363 0 100%
(97.38–100%)
99.92%
(99.87–99.96%)
90.85%
(85.47–94.37%)
100.00%
T18 29 8 18,478 1 96.67%
(82.78–99.92%)
99.96%
(99.91–99.98%)
78.38%
(64.38–87.91%)
99.99%
(99.96–100%)
T13 9 22 18,485 0 100%
(66.37–100.00%)
99.88%
(99.82–99.93%)
29.03%
(21.22–38.32%)
100.00%
T21 (phenotype) 146 17      91.25%  
T18 (phenotype) 34 9      79.07%  
T13 (phenotype) 12 22      35.29%  
SCAs 70 48      59.32%  
SCAs (phenotype) 72 62      53.73%  
XO 13 38    25.49%  
XO (phenotype) 15 52      22.39%  
XXX 9 3      75%  
XXY 32 2      94.12%  
XYY 16 5      76.19%  
RATs 2 31    6.45%  
CNVs 8 8    50%  
CNVs
(< 10 M)
3 4      42.86%  
CNVs
(> 10 M)
5 4      62.5%  
  1. TP: true positive confirmed by genetic test, FP: false positive confirmed by genetic test, TN: true negative confirmed by clinical follow-up, FN: false negative confirmed by clinical follow-up. PPV: positive predictive value, NPV: negative predictive value. PPVs for T21, T18, T13, SCAs, and XO were confirmed based on cytogenetic test. PPVs for T21 (phenotype), T18 (phenotype), T13 (phenotype), SCAs (phenotype), and XO (phenotype) were calculated based on prenatal ultrasound detection and cytogenetic tests. Fetal demise and fetal anomalies revealed by prenatal ultrasound were considered possible T21, T18, T13, XO. T21, and T18 were excluded based on normal newborn examination