Table 4 Classification of true positive CNV and pregnancy outcome
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 |