Table 1

The performance of four approaches for detection of fetal aneuploidy
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

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

Jiang et al.

Jiang et al. BMC Medical Genomics 2012 5:57   doi:10.1186/1755-8794-5-57

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