Table 2.
The four characteristic Q‐sorts
| Statement | Group1 | Group2 | Group3 | Group4 |
|---|---|---|---|---|
| 1. The decision about what information to disclose should be left to healthcare professionals and not involve the parents. | −1 | −4 | −3 | −1 |
| 2. Pre‐test discussion with parents about all possible outcomes is practically impossible. | −2 | −2 | 0 | 3 |
| 3. Parents may find pre‐test information about all possible outcomes hard to understand. | 1 | −1 | 3 | 2 |
| 4. Parents may perceive aCGH testing as risk‐free, especially if describing it as an add‐on test, and hence may not appreciate in advance its complexity. | 1 | 0 | 3 | 3 |
| 5. Parents should take an active role in the decision making process about what information they wish to know. | 2 | 2 | 3 | 0 |
| 6. The lab should report only findings that provide a clinical explanation for the presenting fetal abnormality. | −3 | −4 | −2 | 1 |
| 7. The lab should report all findings with a known clinical significance (either childhood or adult‐onset) | 0 | 4 | −1 | 0 |
| 8. The lab should report all findings with an onset in childhood (even if not relevant to the findings in pregnancy), but not adult‐onset ones. | 0 | −3 | 0 | 1 |
| 9. The lab should report findings of unknown clinical significance.a | −4 | 2 | −2 | −3 |
| 10. Clinicians should have a panel of experts that they could consult with should they wish. | 3 | 2 | 2 | 4 |
| 11. The lab should report findings of uncertain clinical significance (i.e. big range in penetrance).b | −2 | 3 | 0 | −2 |
| 12. When the lab thinks that the information is complex, a genetic health professional should be copied in to the report. | 4 | 3 | 1 | 4 |
| 13. The lab should report all findings, apart from those known to have no clinical significance. | −3 | 2 | −2 | 0 |
| 14. Preferably, it should be fetal medicine experts that discuss aCGH testing with parents. | −1 | −3 | −1 | 0 |
| 15. Preferably, it should be genetic health professionals that discuss aCGH testing with parents. | 1 | 3 | 0 | 2 |
| 16. The clinician who receives the report from the lab should decide what information to disclose to parents. | −1 | −2 | −1 | −4 |
| 17. Clinicians should tailor the findings which they disclose depending on their assessment of what the parents want to know. | 1 | −1 | 0 | −3 |
| 18. Variants of unknowna/uncertainb clinical significance should be discussed by a national panel of experts to decide whether or not they should be disclosed to parents. | 1 | 0 | 1 | 1 |
| 19. Findings with unknowna medical significance should be disclosed to parents. | −3 | −1 | −3 | −2 |
| 20. Medically actionable information, which is only relevant much later on in life, should be disclosed to parents. | 0 | 3 | 0 | 1 |
| 21. Information about adult‐onset conditions should be disclosed to parents only for conditions with medical intervention (such as cancer predisposition syndromes), but not for those with no medical intervention (such as neurodegenerative disorders). | 0 | −2 | −1 | −1 |
| 22. Findings with uncertainb medical significance should be disclosed to parents (i.e. big range in penetrance). | −2 | 1 | −2 | −2 |
| 23. Information that could be relevant to future pregnancies should be disclosed, even if it's not relevant to the present pregnancy (an X‐linked condition, for instance, where the current fetus is a female). | 3 | 4 | 2 | 2 |
| 24. The decision of what information to disclose should be determined by national guidelines and not left to individual labs/clinicians. | 2 | 1 | 1 | 3 |
| 25. Each case should be discussed separately. National guidelines may not be applicable to individual cases. | −1 | 0 | 1 | −1 |
| 26. Personal preferences of parents should determine which results are returned, rather than expert opinions of clinicians. | −1 | −1 | 0 | −1 |
| 27. The possibility of litigation in the future should be taken into consideration whilst deciding what information to disclose to patients. | 0 | −2 | −2 | −3 |
| 28. Information about adult‐onset conditions should not be disclosed during pregnancy, but after birth. | −2 | −3 | −3 | 0 |
| 29. Once parents decide not to be told a particular type of information, the decision cannot be changed. | −3 | −3 | −4 | −3 |
| 30. Parents are allowed to change their preferences after giving birth and be informed about results that they wished not to know during pregnancy. | −1 | 0 | −1 | −1 |
| 31. Information about adult‐onset conditions may have an adverse impact on the future child's quality of life. | 3 | 0 | 2 | 1 |
| 32. Information about adult‐onset conditions may have an adverse impact on parents' interaction with their child. | 3 | 1 | 2 | 0 |
| 33. Information about findings with uncertainb/unknowna clinical significance may lead to parental anxiety. | 3 | 1 | 4 | 3 |
| 34. One reason why information about variants of unknowna/uncertainb clinical significance should not be disclosed to parents is that it may culminate in terminations of healthy pregnancies. | 2 | −2 | 1 | 0 |
| 35. Disclosing adult‐onset conditions will remove the child's ability to decide when they are older if they want to be tested, or not. | 4 | 1 | 4 | 3 |
| 36. Information about adult‐onset conditions may result in discrimination against the future child. | 2 | 0 | 3 | 0 |
| 37. Prenatal aCGH testing should only be performed on high‐risk pregnancies, but not on low‐risk ones. | 2 | 1 | 3 | 2 |
| 38. Prenatal aCGH testing should be offered to all pregnant women (even if for economic reasons—some will have to be paid for outside NHS). | 0 | −3 | −4 | −3 |
| 39. The decision about what information to disclose is no more difficult to make than traditional chromosomal analysis in pregnancy. | −3 | −1 | −3 | −2 |
| 40. It is the clinician's duty to disclose unexpected findings with evidence‐based interventions. | 0 | 2 | 0 | 2 |
| 41. Disclosing incidental findingsc is no different from disclosing a chest mass identified through an x‐ray that was carried out to check for pneumonia. | −4 | 0 | −1 | −4 |
| 42. One reason why incidental findingsc should be disclosed is that it gives parents a choice of terminating the pregnancy. | 0 | 0 | 2 | 1 |
| 43. One reason why variants of unknowna/uncertainb clinical significance should be disclosed is that it gives parents a choice of terminating the pregnancy. | −2 | −1 | −3 | −2 |
| 44. Incidental findingsc should be disclosed to parents if it might benefit other family members (e.g. a deletion of a cancer susceptibility gene). | 1 | 3 | 1 | −1 |
aCGH, array Comparative‐Genomic‐Hybridization.
a
It was explained to participants that findings with unknown clinical significance are novel microdeletions/duplications that contain no known genes, or genes with no known function.
b
It was explained to participants that findings with uncertain clinical significance are microdeletions/duplications that contain known genes with incomplete penetrance.
c
It was explained to participants that incidental findings are those with known medical significance, but unrelated to the reason for which testing was carried out, either childhood, or adult‐onset.