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Table 3 NIPT results for common fetal chromosome aneuploidies and SCAs on two NGS platforms

From: Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies

Chromosome aneuploidies

Illumina

Proton

p-value (Illumina vs Proton)

ST (%)

SP (%)

PPV (%)

ST (%)

SP (%)

PPV (%)

ST

SP

PPV

21

98.34

99.94

88.94

98.84

99.91

82.52

0.756

0.169

0.119

18

98.00

99.96

77.78

100.00

99.94

60.71

0.561

0.326

0.092

13

100.00

99.97

25.00

100.00

99.91

18.18

1.000

0.004

0.611

SCAs

45, X

100.00

99.79

19.39

100.00

99.95

28.57

1.000

< 0.001

0.426

47, XXX

100.00

99.98

55.56

100.00

99.99

80.00

1.000

0.330

0.196

47, XXY

100.00

99.97

55.17

100.00

99.99

92.31

1.000

0.031

0.018

47, XYY

100.00

100.00

85.71

100.00

99.99

66.67

1.000

0.244

0.416

  1. NGS next-generation sequencing, PPV positive predictive value, SCA sex chromosome aneuploidies, SP specificity, ST sensitivity