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Table 3 Summarized data of NIPT performance in detecting trisomies 21, 18/13, SCAs and RAAs/CNVs

From: Whole genome non-invasive prenatal testing in prenatal screening algorithm: clinical experience from 12,700 pregnancies

Chromosomal anomalies Sensitivity
(% (95% Cl))
Specificity
(% (95% Cl))
PPV
(% (95% Cl))
NPV
(% (95% Cl))
T21 100
(96.79–100)
99.50
(98.20–99.94)
98.26
(93.41–99.56)
100
(99.99–100)
T18/13 100
(91.96–100)
99.15
(97.83–99.77)
91.67
(80.57–96.69)
100
(99.99–100)
SCAs 100
(79.41–100)
97.47
(95.63–98.69)
57.14
(43.27–69.98)
100
(99.99–100)
RAAs/CNVs 92.86
(66.13–99.82)
96.88
(94.97–98.20)
44.83
(32.93–57.35)
99.80
(98.68–99.97)
  1. Abbreviations: PPV Positive predictive value, NPV Negative predictive value, SCAs Sex chromosome aneuploidies, RAAs Rare autosomal aneuploidies, CNVs Copy number variations