Embarrassing Illnesses

Most cases of cystic fibrosis are diagnosed in very early life, but some children and young adults are diagnosed later through unexplained illness. If you or your child are displaying symptoms of cystic fibrosis, see your GP as soon as possible.

There are several different ways of screening and diagnosing the condition, which are detailed below.

Newborn screening

Babies can be screened for cystic fibrosis at birth, as part of a blood test known as the Guthrie test. A small amount of your baby's blood is taken by a heel prick and transferred onto a card. The card is then analysed for cystic fibrosis, and other inherited conditions such as sickle cell anaemia and phenylketonuria. In Scotland, Wales, Northern Ireland and parts of England all babies are screened for cystic fibrosis when they are born. There has been much campaigning to make this screening process compulsory everywhere in the UK, and this should come into effect by the end of 2007. The sooner cystic fibrosis is diagnosed, the sooner treatment can begin and the better the outlook.

Antenatal testing

A test can be done on a woman when she is pregnant, if she has a high risk of having a child with cystic fibrosis. This is usually done around the 10th week of pregnancy, using the chorionic villus sampling (CVS) technique. CVS tests a small sample of your chorionic villi (placental tissues) for the presence of the faulty gene which causes cystic fibrosis. The sample is collected using a thin needle which is passed through the wall of your abdomen (stomach), or by passing a small tube through your vagina and cervix (neck of your womb). The process takes about 20 minutes and the test results should be back within 10 to 14 days.

Carrier testing

There is a simple test, using a mouthwash, which can tell whether you or your partner is a carrier of cystic fibrosis. It is especially important to have this test if your partner is a known carrier, or if someone in your family has cystic fibrosis or knows that they carry the condition.

Sweat test

If you have cystic fibrosis, your sweat will have higher levels of salt than normal. In this test, a sweat-producing chemical is applied to a small area of skin on your arm or leg. Then an electrode creates a very weak and painless electric current which causes a warm sensation on the skin so that a sweat sample can be collected and analysed.

Genetic test

This test checks for the faulty gene by analyzing a saliva sample taken from inside your cheek using a swab.
If you or your child is diagnosed with cystic fibrosis, it can be extremely difficult to deal with. It can help to find out as much as you can about the condition. Call the Cystic Fibrosis Trust on 0845 859 1000 for information on its New Diagnosis Pack.