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Table 2 NIPT results for RCAs on two NGS platforms

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

RCAs

Illumina

Proton

Total

NIP

AM

TP

PPV (%)

NIP

AM

TP

PPV (%)

NIP

AM

TP

PPV (%)

7

15

5

0

0.00

10

4

0

0.00

25

9

0

0.00

2

6

1

0

0.00

5

3

0

0.00

11

4

0

0.00

16

4

2

/

0.00

3

2

0

0.00

7

4

/

0.00

3

2

1

0

0.00

6

4

0

0.00

8

5

0

0.00

22

1

1

0

0.00

7

3

1

33.33

8

4

1

25.00

8

2

/

/

/

4

3

0

0.00

6

3

0

0.00

5

1

1

0

0.00

3

2

0

0.00

4

3

0

0.00

10

3

1

0

0.00

1

/

/

/

4

1

0

0.00

14

3

2

0

0.00

1

1

0

0.00

4

3

0

0.00

20

1

1

0

0.00

3

2

0

0.00

4

3

0

0.00

1

2

2

0

0.00

/

/

/

/

2

2

0

0.00

9

1

/

/

/

1

/

/

/

2

/

/

/

11

2

1

0

0.00

/

/

/

/

2

1

0

0.00

15

2

/

/

/

/

/

/

/

2

/

/

/

19

1

/

/

/

1

/

/

/

2

/

/

/

4

/

/

/

/

1

1

0

/

1

/

/

/

  1. AM amniocentesis, NIP NIPT positive, PPV positive predictive value, RCA rare chromosome aneuploidy, TP true positive