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Table 5 Pathogenic classification of the true positive CNVs

From: Performances of NIPT for copy number variations at different sequencing depths using the semiconductor sequencing platform

Index

n

Pathogenicity

Unknown/VOUS

Heredity from phenotypically normal parents

NIPT

61

37 (60.66%)

17 (27.86%)

7 (11.48%)

NIPT-PLUS

41

23 (56.10%)

18 (43.90%)

0

Total

102

60 (58.82%)

35 (34.31%)

7 (6.87%)