Table 2 Review of false negative NIPS-Plus results

From: Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes

Sample number

MMS

NIPS-Plus Z-score

FF

Prenatal/postnatal findings

FN-1

T21

0.23

13.3%

T21: Not detected by ultrasound, diagnosed at birth

FN-2

T21

0.97

9.8%

T21: Not detected by ultrasound, diagnosed at birth

FN-3

T21

0.54

23.1%

T21: Not detected by ultrasound, diagnosed at birth

FN-4

T18

0.41

4.8%

T18: Detected by ultrasound, TOP

FN-5

T18

1.38

15%

T18: Detected by ultrasound, TOP

FN-6

DGS

−1.20

11%

DGS: Detected by ultrasound, confirmed by SNP array, TOP

FN-7

DGS

−1.63

9.5%

DGS: Detected by ultrasound, confirmed by SNP array, TOP

FN-8

1p36 del

1.97

12%

1p36 del: Not detected by ultrasound, diagnosed at birth

FN-9

PWS

−2.78

17%

PWS: Not detected by ultrasound, diagnosed at birth

FN-10a

CDC

−2.04

16%

PWS: Detected by ultrasound, confirmed by SNP array, TOP

  1. CDC cri du chat syndrome, DGS DiGeorge syndrome, FF fetal fraction, MMS microdeletion/microduplication syndromes, PWS Prader–Willi syndrome, SNP single-nucleotide polymorphism, T18 trisomy 18, T21 trisomy 21, TOP termination of pregnancy.
  2. aPlacental biopsy from TOP analyzed by CNV-Seq for mosaicism.
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