| The importance of knowing |
Cascade testing |
‘The idea of this [cascade testing] would be to allow us to get some idea whether it is possible that this [microdeletion] could be an issue for [patient’s niece and nephew] or even any future children at some point’. CG1_1_12 |
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Patient's reproductive future |
‘[Patient] will certainly need to be aware of this information before she has children of her own. She and her partner could be seen in a genetic clinic for counselling…’. CG11_1_10 |
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Reproductive future for parents |
‘[There is] a 50% chance of having a child with this deletion but the outcome of that would be difficult to predict. For this reason, most people do not choose to undergo testing for this sort of chromosome change during pregnancy’. CG10_3_13 |
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| Hope for the future |
Hope for more answers for patients/families |
‘We discussed that SNP microarray is a new test, and more information about this particular microdeletion is likely to become available in the future’. CG8_2_11 |
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Hope for development/management of the patient |
‘…we would certainly be very supportive of any additional assistance that [patient] could be given at this stage to help her with her early learning and I hope that now we have pin-pointed this abnormality, further assistance may be offered’. CG1_4_12 |
