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Extended screening

Trials involving extended screening of newborns at the National Serum Institute (Statens Serum Institut) and Rigshospitalet were a success, and in 2009 the National Board of Health (Sundhedsstyrelsen) decided to make the offer permanent throughout Denmark.

The extra effort is small but results are large. A trial with extended screening of newborns has shown this effect, and screening has now been incorporated into the routine programme. Screening reveals whether a newborn is suffering from a rare, hereditary metabolic disorder which in the worst cases may cause mental retarded development or death. Screening newborns shortly after they are born enables a far more efficient treatment much earlier in the process, and saves lives.

Small test, huge difference
Danish newborns have undergone screening for phenylketonuria and lowered metabolism since the 1970s and since 2002 Rigshospitalet has provided the extended offer, which was made permanent from 2009. About 20 newborns per year are expected to suffer from rare, hereditary metabolic disorders. The screening is very efficient and can be carried out on the basis of the heel blood test which is already taken from the newborn. Therefore, the extended screening does not require extra blood tests.

The small but extra effort makes a huge difference for children with metabolic disorders, providing better chances of survival and higher quality of life.

“Diagnosis of rare hereditary disorders is difficult and the time that passes between discovery of symptoms and diagnosis is often long. Extended screening of newborns is one of Rigshospitalet’s efforts for patients with hereditary metabolic disorders. The Metabolic Department at the Department of Clinical Genetics is also working biochemically and clinically on giving other patients quicker diagnosis and treatment. To some people a diagnosis will be a welcome explanation for a lifetime of problems and to others it will mean an offer of effective treatment,” says Allan Meldgaard Lund, Consultant Physician.

On www.sjaeldnehandicap.rh.dk (In Danish) you can read more about Rigshospitalet’s work on rare disorders and disabilities.