Objective Computed tomography colonography (CTC) is an alternative diagnostic test to colonoscopy for colorectal cancer and polyps. The aim was to determine test characteristics important to patients and to examine trade-offs in attributes that patients are willing to accept in the context of diagnosis of colorectal cancer. Methods A discrete choice study to assess preferences of patients with clinical indications suspicious of colorectal cancer who experienced both CTC and colonoscopy as part of a diagnostic accuracy study in South Australia. Results were analysed using a mixed logit model and presented as odds ratios (OR) for preferring CTC over colonoscopy Results Colonoscopy was preferred over CTC as the need for a second procedure after CTC increased (odds ratio of preferring CTC to colonoscopy=0.013), as the likelihood of missing cancers or polyps increased (OR of CTC: colonoscopy=0.62) and as CTC test cost increased (OR of CTC: colonoscopy=0.65–0.80). CTC would be preferred to colonoscopy if a minimal bowel preparation was available (OR=1.7). Some patients were prepared to trade-off the diagnostic and therapeutic advantage of colonoscopy for a CTC study with a less intensive bowel preparation. Preferences also varied significantly with sociodemographic characteristics. Conclusions Despite CTC often being perceived as a preferred test, this may not always be the case. Informed decision making for diagnostic tests for colorectal cancer should include discussion of the benefits, downsides and uncertainties associated with alternative tests, as patients are willing and able to make trade-offs between what they perceive as the advantages and disadvantages of these diagnostic tests.

We describe a 27-week fetus with occipitoschisis, polydactyly, campomelia, cleft palate, laryngeal dysplasia, ocular colobomata, hepatic fibrosis and intrahepatic cyst, ambiguous genitalia, cystic dysplastic kidneys, and brain malformation. This pattern of abnormalities appears unique. The differential diagnosis is discussed. The parents are first cousins, making autosomal recessive inheritance likely.

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