Skip to main content

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