Table 1 Analytical performance metrics as estimated from ROC analysis.

From: High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening

 

Analytical sensitivity

Analytical specificity

Common aneuploidies (aggregate)

99.988% ± 0.004%

99.968% ± 0.005%

T21

99.990% ± 0.005%

99.996% ± 0.001%

T18

99.990% ± 0.002%

99.996% ± 0.001%

T13

99.978% ± 0.005%

99.976% ± 0.005%

RAAs (aggregate)

99.695% ± 0.305%

99.981% ± 0.010%

Microdeletions (aggregate)

97.172% ± 0.054%

99.767% ± 0.012%

DiGeorge syndrome (22q11.2)

95.633% ± 0.071%

99.949% ± 0.005%

  1. RAA rare autosomal aneuploidies, ROC receiver–operator characteristic.