Table 1
Summary of genetic risks for autosomal recessive disease in a fetus in various clinical settings*
| Fetus | Parent A | Parent B | Genetic risk for fetus |
|---|---|---|---|
| *Genetic testing is assumed to be able to detect the same set of mutations in the fetus or parents, or both, and rates of de novo mutations and the risk of mosaicism are assumed to be negligible. | |||
| One mutation identified | Not tested | Not tested | Scenario 1, table 4 |
| One mutation identified | Tested negative | Not tested | Scenario 2, table 5 |
| One mutation identified | Same mutation identified | Not tested | Scenario 3, table 6 |
| One mutation identified | Same mutation identified | Tested, negative | Scenario 4, table 7 |
| One mutation identified | Same mutation identified | Same or another mutation identified | Disease risk negligible |
| Tested negative | Not tested | Not tested | Scenario 5, table 8 |
| Tested negative | Tested negative | Not tested | Scenario 6, table 9 |
| Tested negative | Tested negative | Tested negative | Scenario 7, table 10 |
| Tested negative | One mutation identified | Not tested | Scenario 8, table 11 (disease risk negligible) |
| Tested negative | One mutation identified | Tested negative | Scenario 9, table 12 (disease risk negligible) |
| Tested negative | One mutation identified | Same or another mutation identified | Carrier and disease risks negligible |
