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Table 1 The performance of four approaches for detection of fetal aneuploidy

From: Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies

Test

Standard z-score approach

GC correct z-score approach

Internal chromosome control based z-score approach

NIFTY test

(Number of cases)

Sensitivity

Specificity

Sensitivity

Specificity

Sensitivity

Specificity

Sensitivity

Specificity

Autosome

T13 (2)

50%(1/2)

99.9%(900/901)

100%(2/2)

100%(901/901)

100%(2/2)

99.7%(898/901)

100%(2/2)

100%(901/901)

T18 (12)

91.7%(11/12)

100%(891/891)

100%(12/12)

99.9%(890/891)

100%(12/12)

100%(891/891)

100%(12/12)

99.9%(890/891)

T21 (16)

93.7%(15/16)

100%(887/887)

100%(16/16)

100%(887/887)

100%(16/16)

100%(887/887)

100%(16/16)

100%(887/887)

Sex chromosome*

45, X (3 45, X, 1 45,X/46,XX)

Not available

Not available

Not available

Not available

75%(3/4)

99.8%(897/899)

75%(3/4)

99.9%(898/899)

XYY (1)

Not available

Not available

Not available

Not available

0%(0/1)

100%(902/902)

100%(1/1)

100%(902/902

XXY (2)

Not available

Not available

Not available

Not available

0% (0/2)

100%(901/901)

100%(2/2)

100%(901/901)

Binary hypothesis

Not available

Not available

Available

Available

  1. * We could not perform sex chromosome aneuploidy detection for one case because of the failure in gender classification.