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Table 7 Predictive efficiencies of single indication for pathogenic fetal CNV-seq results

From: Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

   CNV Total McNemar’s χ 2 P value Sensitivity Specificity
   1 0
NIPT 1 459 339 798 334.03 <  0.001 1.00 (0.99, 1.00) 0.22 (0.18, 0.26)
0 1 96 97
Total   460 435 895
Maternal serum screening 1 188 1517 1705 1212.5 <  0.001 0.63 (0.57, 0.68) 0.37 (0.35, 0.39)
0 111 884 995
Total   299 2401 2700
fetal ultrasound 1 532 1585 2117 991.79 <  0.001 0.69 (0.66, 0.72) 0.59 (0.57, 0.60)
0 239 2245 2484
Total   771 3830 4601
Advanced maternal age 1 300 1207 1507 321.95 <  0.001 0.39 (0.35, 0.42) 0.68 (0.67, 0.70)
0 471 2623 3094
Total   771 3830 4601
  1. CNV
  2. 1-including pathogenic microdeletion/duplication, Auto A, Sex A, Auto AM, Sex AM
  3. 0-including likely pathogenic (LP-), uncertain significance (VUS-), likely benign (LB-) and benign (B-)
  4. NIPT.
  5. 1-high risk.
  6. 0-low risk.
  7. Maternal serum screening.
  8. 1-high risk.
  9. 0-low risk.
  10. Fetal ultrasound.
  11. 1-abnormal ultrasound findings (grades 2–4).
  12. 0-normal or subnormal ultrasound findings (grades 0–1).
  13. Advanced maternal age
  14. 1-Advanced maternal age (≥ 35 yrs)
  15. 0-Maternal age (< 35 yrs).