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Table 6 NIPT Performance for detecting individual sex chromosome aneuploidies

From: Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies

n = 145

TP

FP

TN

Reported FN

Specificity

TN/(TN + FP)

%(95% Cl)

PPV

TP/(TP + FP)

%(95% Cl)

47,XXX

20

4

111

0

96.52

111/115

83.3

20/24

     

(93.12,98.92)

(68.40, 98.20)

47,XXY°

35

5

95

0

95.00

95/100

87.5

35/40

     

(89.62, 98.01)

(78.30, 97.90)

45, X°°

52

9

74

0

89.16

74/83

85.2

52/61

     

(81.09, 94.33)

(79.16,94.84)

47,XYY

10

0

125

0

100

125/125

100

10/10

     

(96.28, 100)

(96.28, 100.0)

  1. CI confidence interval, TP true positive, FP false positive, FN false negative
  2. °Karyotyping in amniotic fluid revealed one was a case of 48, XXYY and one was a case of 49, XXXXY
  3. °°Karyotyping in amniotic fluid revealed one partial deletion 46,X,del(X)(q?)dn and two mosaics: 45X/46XY and mos45,X[68]/46,X,i(X)(q10)[32]