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Typical newborn screening programmes:
Phenylketonuri (PKU): PKU affects one in 10,000 babies. These babies cannot utilise part of a protein in their food. As a result, this substance builds up in the blood and can lead to brain damage unless corrected.
Congenital Hypothyroidism: Affects one in 4,000 babies and is caused by underactivity of the thyroid gland in the baby's neck. This gland fails to provide enough of the hormone thyroxine which is essential for normal growth and development.
CYSTIC FIBROSIS (Most Common): Cystic Fibrosis is an inherited disorder expressed in the various organs that causes cells to release a thick mucus, which can lead to chronic respiratory disease, problems with digestion, and poor growth. There is no known cure - treatment involves trying to prevent the serious lung infections associated with it and providing adequate nutrition. Some infections may be prevented with antibiotics.
This condition is usually not obvious at birth but later in childhood, it results in lung disease and problems of digestion, which can affect growth. Unlike the two conditions mentioned previously, there is still much to be understood about the effects of this disease, but doctors are now quite sure that the available treatment is of greatest benefit to most infants when it is begun very early in life before any symptoms are apparent. Detecting the disease early may help doctors reduce the lung and nutritional problems associated with cystic fibrosis, but the real impact of newborn screening is yet to be determined.
About 1 in 2500 babies in the UK are born with cystic fibrosis. Cystic fibrosis is an autosomal recessive disorder. This means that in order to develop cystic fibrosis you need to inherit two cystic fibrosis genes, one from your mother and one from your father. If you inherit only one cystic fibrosis gene, you are called a carrier.
About 1 in 25 people in the UK of caucasian decent (white european) are carriers of the cystic fibrosis gene. It is much less common in Afro-Caribbean and Asian people. Carriers do not have the disease as they have one normal gene which can control the salt transport in their cells. But carriers can pass the cystic fibrosis gene on to their children.
When two people who carry the cystic fibrosis gene have a child...
1 in 4 chance that the child will have cystic fibrosis (by inheriting the cystic fibrosis gene from both parents).
2 in 4 chance that the child will not have cystic fibrosis, but will be a carrier (by inheriting a cystic fibrosis gene from one parent but the normal gene form the other parent).
1 in 4 chance that the child will not have cystic fibrosis, and will not be a carrier (by inheriting the normal gene from both parents).
Symptoms usually first develop within the first year of life, but may not appear until later in childhood. The severity of symptoms can vary.
Symptoms To Look Out For in Newborns:1. Unusually messy and smelly nappies: About 1 in 10 children with cystic fibrosis are diagnosed shortly after birth. A symptom is a bowel obstruction called meconium ileus. In these cases, the meconium (a thick black sticky material present in the bowels of all newborn babies) is so thick that it blocks the bowel instead of passing through. Babies with meconium ilius often need an urgent operation to relieve and bypass the blockage.
3. Upward beaked fingernails
Newborn ScreeningNewborn Screening: Around a third of babies in the UK are tested for CF at birth using a heel-prick blood test. Some countries screen all newborn babies for cystic fibrosis. A small 'heel prick' blood test is taken about the sixth day after birth. This can detect a chemical called immunoreactive trypsin which is high in babies with cystic fibrosis. If it is high, a sweat test and genetic test can be done to confirm the diagnosis.
There are very good arguments to screen all babies, as the earlier the diagnosis is made, the sooner treatment can begin which improves the outlook (prognosis). However, only a few places in the UK routinely screen newborn babies for cystic fibrosis. This may change in the future and screening may be introduced to include all areas in the UK. The aim is to get all babies tested by April 2007. This would enable children with CF to receive the best possible treatment from an early age.
Sweat Test: A sweat test is used if the baby is over 2 months of age. CF babies will have an abnormally high level of salt.
Carrier testing: Those particularly at risk of carrying the CFTR gene can be tested with a simple mouthwash.
Support from CF TrustExpert Patient Advisers: The Cystic Fibrosis Trust Patient Advocate Scheme has evolved into that of Expert Patient Advisers. Their remit is broad and varied, continuing with much of their previous role as Advocates, but with more emphasis on becoming experts in the care that people with CF should expect - and using their knowledge to influence anyone who is involved with the commissioning or provision of care and services for people with Cystic Fibrosis.
Regional CF Centres: Offering help and support where you are. The wider social impact of CF on family life means that practical advice and emotional or financial support should be easily available.
Coping with CF at the time of diagnosis and other stressful occasions can be challenging. There are many issues involved such as how to get a toddler to take medication, what to tell your child's school, or how to deal with resistance to physiotherapy.
The CF Trust's Support Service provides practical and emotional support, information and help with the benefits system. Ring the CF Helpline on 0845 859 1000 for information, advice and support on any aspect of Cystic Fibrosis.
Ring 0845 859 1010 for information and advice about benefits and how to apply for them.
The most pressing burden is often financial. The Trust may be able to help by providing a grant or accessing grants from other sources. Contact the Welfare Grants Helpline on 0845 859 1020 for more information.
The FutureCF Trust-funded scientists are in the forefront of ground breaking gene therapy research which aims to replace the defective gene with a healthy copy.
Understanding Cystic Fibrosis: A Case Study
The Cystic Fibrosis Trust
2 Sept 2006