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Table 3 Performance of cfDNA whole and subchromosomal CNV detection based on microarray findings

From: Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray

 

(A) Using ‘in-scope’

(study standard)

N = 656

(B) Counting ‘out-of-scope’ CNVs as ‘false negatives’

N = 656

cfDNA

Sensitivity

93.8%

(95% CI 77.8—98.9%)

48.4%

(95% CI 35.7—61.3%)

cfDNA

Specificity

97.3%

(95% CI 95.6—98.4%)

97.1%

(95% CI 95.4—98.3%)

cfDNA PPV

63.8%

(95% CI 48.5—76.9%)

63.8%

(95% CI 48.5—76.9%)

cfDNA NPV

99.7%

(95% CI 98.7–99.9%)

94.7%

(95% CI 92.6—96.3%)

  1. (A): Performance as measured by cfDNA with direct comparison to array outcome (study scope), treating out-of-scope CNV cases as ‘true negatives’
  2. (B) Modification of performance if out-of-scope CNV cases are treated as ‘false negative’
  3. CNV copy number variant; PPV  positive predictive value; NPV negative predictive value
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Molecular Cytogenetics

ISSN: 1755-8166