| Causal: Uncertainty in relation to the microdeletion being a complete explanation for the patient’s symptoms |
‘Generally, we say that these types of microdeletions are not a complete explanation but are likely to be an important contributor to these problems’. CG1_1_12 |
47 (96) |
| Predictive: Uncertainty in relation to predicting the phenotypic outcomes for future pregnancies |
‘Testing in pregnancy is technically possible; however, if we were to find the microdeletion, we would not be able to predict what effect if any it would have on the baby's development’. CG8_3_12 |
15 (31) |
| Predictive: Uncertainty in relation to predicting likelihood of a currently healthy child developing symptoms |
‘It is difficult to predict the risk of a child developing epilepsy or autism if a microdeletion has been passed on’. CG6_1_12 |
4 (8) |
| Predictive: Uncertainty in relation to predicting change in severity for child with existing symptoms |
‘The effects of this chromosome 15 deletion are variable, meaning that some children with (sic) have more significant problems than others, making it difficult to predict [patient’s] future based on this result’. CGF2_3_CG4_5_11 |
6 (12) |
| Origin: Uncertainty regarding whether the microdeletion was de novo or inherited |
‘[Patient’s] microdeletion may have arisen in him for the first time as a result of accident in development or it may have been inherited from one of you’. CG8_3_12 |
6 (12) |
