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Table 4 Classification of true positive CNV and pregnancy outcome

From: Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations

Patients NIPT CMA CNV Inheritance Pregnancy outcome Gestation at the time of therapeutic abortion
Case 1 8p23.2p23.3, deletion, 5.2 M 8p23.2p23.3, deletion, 6.0 M Pathogenic de novo Therapeutic abortion 23+2 W
Case 2 12p12.1p12.2, deletion, 4.2 M 12p12.1p12., deletion, 4.13 M Pathogenic not determined Therapeutic abortion 21+5W
Case 3 18q12.3, duplication, 2.2 M 18q12.3, duplication, 1.51 M VOUS Not determined Delivery, normal  
Case 4 15q13.2q13.3,deletion, 2.1 M 15q13.2q13.3, deletion, 1.34 M Pathogenic de novo Therapeutic abortion 23+4 W
Case 5 11p14.2p14.3, duplication, 3.85 M 11p14.2p14.3, duplication, 3.59 M VOUS Inherited from the father Delivery, normal  
Case 6 11q22.1q25, duplication, 40.09 M 11q22.1q25, duplication, 35.57 M Pathogenic de novo Head deformity (ultrasound), therapeutic abortion 22+1 W
Case 7 16p13.11, duplication, 2.5 M 16p13.11, duplication, 1.64 M Likely pathogenic (nonpenetrance) Not determined Unknown  
Case 8 10q21.1, deletion, 2.1 M 10q21.1, deletion, 2.13 M VOUS Not determined Delivery, normal  
Case 9 2q32.3q33.1, duplication, 5.29 M 2q32.3q33.1, duplication, 4.28 M VOUS Inherited from the mother Delivery, normal  
Case 10 18q22.3q23, duplication, 5.45 M 18q22.3q23, duplication, 6.04 M VOUS Inherited from the mother Head deformity (ultrasound), therapeutic abortion 26+6 W
Case 11 4p14p15.1, deletion, 3.6 M 4p14p15.1, deletion, 3.32 M VOUS Not determined Delivery, normal  
Case 12 13q33.1q34, deletion, 9.4 M 13q33.1q34, deletion, 9.22 M Pathogenic de novo Craniofacial malformation (ultrasound), therapeutic abortion 25+1 W
Case 13 1q21.1q21.2, duplication, 3.0 M 1q21.1q21.2, duplication, 1.71 M Pathogenic (incomplete penetrance) Inherited from the mother Therapeutic abortion 24+6 W
Case 14 3q26.33q27.1, duplication, 3.35 M 3q26.33q27.1, duplication, 3.29 M VOUS Not determined Delivery, normal  
Case 15 15q11.2q13.1, duplication, 6 M 15q11.2q13.1, duplication, 5.24 M Pathogenic Not determined Therapeutic abortion  
Case 16 18q12.3q22.3, duplication, 28.6 M 18q12.3q22.3, duplication, 30.59 M Pathogenic Not determined Head deformity and cheilopalatognathus (ultrasound), therapeutic abortion 23+5 W
Case 17 16p13.11p12.3, duplication, 3.6 M 16p13.11p12.3, duplication, 2.67 M Likely pathogenic (nonpenetrance) not determined Delivery, normal  
Case 18 3p26.3, duplication, 2.5 M 3p26.3, duplication, 2.21 M VOUS Inherited from the mother Delivery, normal  
Case 19 2q12.1q12.3, duplication, 2.5 M 2q12.1–12.3, duplication, 2.51 M VOUS Not determined Delivery, normal  
Case 20 17p12, deletion, 2.5 M 17p12, deletion, 1.42 M Pathogenic Inherited from the mother Delivery, normal  
Case 21 6p12.1p12.3, duplication, 4.6 M 6p12.1p12.3, duplication, 4.36 M VOUS Inherited from the mother Delivery, normal  
Case 22 18q12.2, deletion, 2.5 M 18q12.2, deletion, 1.06 M VOUS Not determined Therapeutic abortion 23+3 W
Case 23 2q13, deletion, 2 M 2q13, deletion, 2.12 M Likely pathogenic (nonpenetrance) Inherited from the mother Delivery, normal  
Case 24 8 p21.3p22, deletion, 5.21 8p21.3p2, deletion, 3.81 M VOUS Not determined Delivery, normal  
Case 25 3q26.32q28, duplication, 9.61 M 3q26.32q28, duplication, 9.61 M Pathogenic de novo Facial and cardiac abnormalities (ultrasound), therapeutic abortion 26+1 W