Table 4.
WGA technique comparison
| Sanger sequencing | SNaPshot analysis | STR analysis | STR ADO (%) | aCGH analysis | Total embryos analyzed | |
|---|---|---|---|---|---|---|
| HTT-case | – | – | 7 MDA | 4.5 | 2 MDA | 7 MDA |
| ACTA2-case | 4 MDA; 5 OmniPlex | – | 4 MDA; 5 OmniPlex | 1.5 | 3 MDA; 2 OmniPlex | 4 MDA; 5 OmniPlex |
| TPP1-case | 3 MDA | – | 3 MDA | 1.4 | 1 MDA | 3 MDA |
| ALOX12B-case | 12 MDA | 12 MDA | 12 MDA | 2.8 | 2 MDA | 12 MDA |
| DMD-case 1 | – | – | 9 OmniPlex | 13.3 | 9 OmniPlex | 9 OmniPlex |
| DMD-case 2 | 8 MDA; 9 OmniPlex | 8 MDA; 9 OmniPlex | 8 MDA; 9 OmniPlex | 4.7 | 3 MDA; 5 OmniPlex | 8 MDA; 9 OmniPlex |
| GLB1-case | 5 MDA | – | 5 MDA | 2.0 | 5 MDA | 5 MDA |
| WGA material donated for research | – | 11 OmniPlex | – | – | 11 OmniPlex | 11 OmniPlex |
| MDA | n = 32, ADO 10.0% | n = 20, ADO 5.5% | n = 39, clear electropherograms | 2.98 | n = 17, noisy profiles, resolution: full chromosomes, ~ 30% of samples have to be reanalyzed | n = 39 |
| OmniPlex | n = 14, ADO 21.4% | n = 20, failed reaction or inconsistent result for > 60% of cases | n = 23, electropherograms overrepresented with stutter peaks | 6.5 | n = 27, clear profiles, resolution: ~ 5 Mb | n = 34 |
| Total | 46 | 40 | 62 | Average 4.74 | 44 | 73 |
All ADO rates were calculated by dividing homozygous genotypes when heterozygous (Hz) was expected to all expected Hz loci. ADO was counted if an alternative allele was completely absent or was indistinguishable from the artefact (partial ADO)
ADO allelic dropout