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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]