Table 1. Summary of tests conducted on patients from group 1 (pregnancies A–J).
| Pregnancies | Outcome (mat/pat) | Gestation | Foetal fraction | Reference haplotypes | Informative SNPs used | Haplotype blocks (mat/pat) | Classification accuracy | Average sequencing depth of informative SNPs used |
|---|---|---|---|---|---|---|---|---|
| A | HapA–HapA | 13 weeks+4 days | 14.34% | CVS | 823 | 18/8 | 100% | 339 |
| B | HapA–HapA | 13 weeks+5 days | 7.56% | CVS | 898 | 20/12 | 100% | 321 |
| C | HapA–HapA | 14 weeks+5 days | 9.83% | CVS | 726 | 18/10 | 100% | 259 |
| D | HapA–HapA | 13 weeks+1 day | 7.51% | CVS | 811 | 13/11 | 100% | 270 |
| E | HapA–HapA | 11 weeks+2 days | 20.31% | CVS | 566 | 14/8 | 100% | 223 |
| F | HapA–HapA | 15 weeks+5 days | 6.83% | AMNIO | 675 | 10/10 | 95% | 257 |
| G | HapA–HapA | 13 weeks+5 days | 11.69% | CVS | 653 | 14/10 | 100% | 189 |
| H | HapA–HapA | 11 weeks+1 day | 12.21% | CVS | 531 | 11/9 | 100% | 149 |
| I | HapA–HapA | 11 weeks+3 days | 6.91% | CVS | 278 | 3/5 | 100% | 89 |
| J | HapA–HapA | 14 weeks | 12.10% | CVS | 360 | 9/4 | 100% | 64 |
Outcomes are reported as paternal and maternal inheritance of the reference haplotypes (HapA) identified in the foetal DNA obtained by invasive sampling or the opposite haplotypes (HapB) identified in the maternal and paternal DNA samples by haplotype phasing. Only informative SNPs that passed the quality filtering criteria (see Supplementary Appendix A) were used for data analysis. The numbers of haplotype blocks identified for paternal and maternal inheritance 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 data analysis.