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Newborn screening

Newborn screening for CF started in the Thames Valley in July 2006, and was nationwide by the end of 2007. Screening detects most (96%) infants with CF using a combination of IRT and gene mutation testing. All infants detected by screening need to have a confirmatory test - either a sweat test or repeat genetic testing. The protocol used for screening can be found here. Department of health leaflets used to explain the screening program, to provide advice for babies who are found to be carriers, and to provide advice for those suspected of having CF can be found by following the links.

What to do if you are contacted by the screening team

• A child with a high initial IRT and 2 CF mutations
• A child with a high (>99.5th centile) initial IRT, one CF mutation identified and a high second IRT
• A child with a high (>99.9th centile) initial IRT, no CF mutations and a high second IRT

The children in group 1 have cystic fibrosis (but will need a confirmatory test). We suggest the following approach:

• It is a good idea to contact the GP first to find out a bit about the family and get their contact details
• The family should be contacted early in the week (Mon-Thur) and but not on a Friday. If the results come through on a Friday, wait until after the weekend before contacing the family so that immediate support can be given in the first few days after the diagnosis is explained.
• Do not contact the family until arrangements have been made to see them the same day. We recommend that they are contacted by telephone and a form of words is used as follows: "Your child had a heel prick screening test for a number of diseases when they were a few days old. I need to talk to you about the result of this test. Then EITHER: Please come to the hospital today at.... OR I will visit you at home today at...."
• It is essential that the phone call is made directly before the family can be seen, either by the CF nurse specialist doing a home visit, or by the CF consultant at the hospital. Although this group of children will need a subsequent sweat test and genetic test to exclude the very unlikely possibility that there has been a mix-up in the lab, it is best to explain that the child has cystic fibrosis on the basis of the screening test.

The children in groups 2 and 3 are suspected to have a diagnosis of CF, but this must be confirmed with a sweat test and/or extended genetic mutation testing (this takes 40 days once the lab in Manchester have received the sample). A small proportion will be unaffected. Until the sweat test has been performed, we would not recommend any detailed discussion about CF, although this can be difficult in practice. Once again parents should be telephoned early in the week (Mon-Thur) and ideally offered 2 possible appointments to come up to the hospital for the sweat test, one of which should be the same day. Don't contact the family before potential sweat test dates have been arranged. Make sure that everyone who will be involved in explaining the diagnosis is aware of the appointment before the family is contacted. We would recommend a form of words to be used of the telephone as follows: "Your child had a heel prick screening test for a number of diseases when they were a few days old. This test has shown that your child is in a group of children with increased risk of one of these diseases. We need to do a futher test to check whether your child is affected or not. We can see you today at .... time or tomorrow at ... time."