Table 1.
Summary of tests conducted on patients from groups 1 and 2
| Family | Group | Mutation | Outcome | Gestation | Fetal fraction (%) | PND outcome | Reference haplotype | Informative SNPs used | Haplotype blocks (forward / reverse) | Classification accuracy (%) | Average sequencing depth of informative SNPs used |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A | 1 | NA | HapA | 13 w + 3 d | 5.27 | NA | CVS | 422 | 15/14 | 100 | 160 |
| B | 1 | NA | HapA | 11 w + 6 d | 15.19 | NA | CVS | 383 | 15/15 | 100 | 193 |
| C | 1 | NA | HapA | 12 w + 5 d | 18.05 | NA | CVS | 365 | 15/15 | 100 | 52 |
| D | 1 | NA | HapA | 13 w + 2 d | 5.83 | NA | CVS | 286 | 10/10 | 100 | 114 |
| E | 1 | NA | HapA | 13 w | 26.62 | NA | CVS | 441 | 17/17 | 100 | 59 |
| F | 1 | NA | HapA | 11 w + 4 d | 3.55 | NA | CVS | 441 | 15/15 | 90 | 247 |
| G | 1 | NA | HapA | 13 w + 3 d | 14.84 | NA | CVS | 337 | 13/13 | 100 | 53 |
| H | 2 | Del ex45 | Affected | 8 w + 4 d | 9.48 | Affected | Affected son | 325 | 12/11 | 100 | 48 |
| I | 2 | Del ex43 | Unaffected | 12 + 3 d | 13.00 | Unaffected | Affected brother | 318 | 7/7 | 100 | 11 |
Prenatal diagnosis was conducted by invasive means on group 2 patients. The informative SNPs used represent SNPs which are heterozygous in the mother and comply with RHDO parameters (appendix D, supporting information). The numbers of haplotype blocks identified in the forward and reverse RHDO analysis are kept separate. The classification accuracy represents the percentage of haplotype blocks which showed an expected inheritance pattern. The average sequencing depth has been calculated on the informative SNPs used for the RHDO analysis.