To send content items to your account,
please confirm that you agree to abide by our usage policies.
If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account.
Find out more about sending content to .
To send content items to your Kindle, first ensure email@example.com
is added to your Approved Personal Document E-mail List under your Personal Document Settings
on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part
of your Kindle email address below.
Find out more about sending to your Kindle.
Note you can select to send to either the @free.kindle.com or @kindle.com variations.
‘@free.kindle.com’ emails are free but can only be sent to your device when it is connected to wi-fi.
‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.
Cystic fibrosis (CF) is the most common autosomal recessive disorder in Caucasians, occurring in one out of every 2,500–2,800 births worldwide, and is associated with a high burden of disease. In Australia, prenatal testing for CF is indicated for pregnant couples identified as carriers or when a fetus is found to have an ‘echogenic bowel’ (FEB). We aimed to determine the effectiveness of prenatal CF testing and to assess ethical dimensions. A key challenge in assessing a prenatal test is selecting appropriate endpoints to indicate clinical effectiveness.
A systematic review was conducted and a linked evidence approach was used to answer the effectiveness question. The literature on ethical considerations relating to prenatal testing was also reviewed.
No studies were identified on the direct effectiveness of prenatal CF testing or downstream consequences. Linked evidence showed good diagnostic performance with a test failure rate of 4.5 percent. Termination of pregnancy occurred in the majority of cases where two mutations were identified in a fetus of carrier parents (155/163; 95 percent), indicating testing impacts clinical management. In FEB cases with CF, termination occurred in around sixty-five percent of pregnancies. Both terminating a pregnancy and having a child with CF were associated with poor short term parental psychological outcomes. Evidence indicates prenatal testing leads to a decreased number of CF-affected births. However, ethical analyses indicated that ‘informed decisions’ should have been the primary outcome of interest.
Proper counselling prior to testing ensures that the aim of prenatal testing is informing reproductive choices in a non-directive way, rather than decreasing the number of CF-affected births (which is ethically problematic). These results suggest that for health technology assessments undertaken on contentious topics, ethical analysis should be undertaken first so appropriate endpoints are selected for the subsequent systematic review of clinical evidence and for the economic model.
Email your librarian or administrator to recommend adding this to your organisation's collection.