Table II.
Affected male partner | Unaffected female partner | Informativity | ADO detection in the embryo | Detection of maternal contamination | Additional info on monosomy/trisomy | Comments | Recommendation for PGT-M (ranking1) |
---|---|---|---|---|---|---|---|
A*B | AA | Informative | Partially | No | Partially | The wild-type allele is a unique allele, therefore unaffected embryos are heterozygous and can be distinguished | Preferred marker (1) |
AB* | BB | ||||||
AB* | AA | Informative | Partially | No | Partially | The mutant allele is a unique allele therefore unaffected embryos are homozygous; therefore, it is uncertain whether both paternal and maternal alleles are present | Usable marker (2) |
A*B | BB | ||||||
A*B or AB* | AB | Non-informative | No | No | No | The marker yields very limited information (to be used in combination with other markers) | Usable marker (3) |
AA or BB | Any genotype | Non-informative | - | - | - | No information | Not recommended |
1The utility of the markers is ranked from very good (1) to very low (3)
The pathogenic allele is indicated with *after validation of segregation with a suitable reference.