Table 1 Overview of the maternal CNVs detected by NIPS and classification steps
Family ID | Type and position | Evaluation by means of databases | Segregation | Reading frame | Final classification | Fetal sex | |||
|---|---|---|---|---|---|---|---|---|---|
Del/Dup | Exon | Leiden OVD | France UMD-DMD | Database Classification | |||||
1 | Del | 51 | DMD | DMD | DMD | Son DMD | Out-of-frame | DMD | M |
2 | Dup | 45–53 | 78 BMD, 16DMD | 48 BMD | Likely BMD | Nephew age 12 clinically NL, CK 1454 U/L; father age 69 carrier NL | In-frame | Mild BMD or likely benign | F |
3 | Del | 10–16 | 1 BMD | 1 BMD | Likely BMD | Father carrier mild BMD | In-frame | Mild BMD | M |
4 | Del | 14–21 | 1 DMD | Absent | Likely DMD | NI (maternal) | Out-of-frame | Likely DMD | M |
5 | Del | 45–51 | 21 BMD, 12 DMD | 6 BMD, 1 DMD | Variable | NI (de novo) | In-frame | Variable | M |
6 | Del | 49 | 1 BMD, 7 DMD | Absent | Likely DMD | Parents unavailable | In-frame | Likely DMD | M |
7 | Del | 50–55 | 2 DMD | Absent | Likely DMD | ND | In-frame | Likely DMD | M |
8 | Del | 48–49 | 47 BMD, 11 DMD | 1 DCM, 30 BMD, 2 NL | Variable | ND | In-frame | Variable | M |
9 | Del | 52–53 | 3 DMD, 1 BMD, 1 NL | Absent | Variable | ND | In-frame | Variable | F |
10 | Dup | 10–27 | 3 cases (no phenotype) | Absent | VUS | Father carrier NL | In-frame | Likely benign | F |
11 | Dup | 10–27 | 3 cases (no phenotype) | Absent | VUS | NI (maternal) | In-frame | Likely benign | F |
12 | Dup | 10–27 | 3 cases (no phenotype) | Absent | VUS | ND | In-frame | Likely benign | M |
13 | Del | 54–55 | 1 case (no phenotype) | Absent | VUS | Son age 3 clinically NL, CK 881 U/L; father carrier NL | In-frame | Likely benign | M |
14 | Dup | 51–62 | 1 case (no phenotype) | Absent | VUS | NI (maternal, son NL noncarrier) | Out-of-frame | Likely DMD | F |
15 | Del | 51–64 | absent | Absent | VUS | ND | In-frame | VUS | M |
16 | Del | 56–59 | absent | Absent | VUS | ND | In-frame | VUS | M |
