Search

In Denmark, the Faroe Islands, and Greenland, comprehensive screening of newborns for phenylketonuria and congenital hypothyroidism has been carried out for 20 years. The screening programme has detected 98 and 356 patients, respectively, corresponding to incidences of 1:12,000 and 1:3,400. The future savings on health care expenditures resulting from one year of neonatal screening are estimated to be 196 million DKK in present day value, which is 28 times higher than the cost of screening. The screening samples are stored in a biobank, which is used in diagnosis of congenital diseases and infant deaths and for development of future screening methods. It is desirable to expand the existing screening programme to include a range of rare inherited metabolic diseases, which collectively are frequent. This is realistic with the advent of tandem mass spectrometry, which allows cost-effective simultaneous screening for a group of inborn errors of metabolism.

Gaucher's disease is the most common inherited lysosomal storage disorder, displaying hepato-splenomegaly, thrombocytopenia, anaemia and bone pain as characteristic features. Substitution therapy with a modified enzyme alglucerase has revolutionized the treatment and prognosis of Gaucher's disease. The first Danish patients treated with alglucerase are reported.

Gaucher's disease is the most frequent inherited lysosomal storage disorder, displaying hepato-splenomegaly, thrombocytopenia, anaemia, and bone pain as characteristic features. Substitution with the modified enzyme alglucerase has revolutionized the treatment and prognosis of Gaucher's disease. Treatment in general and current trends in enzyme substitution therapy in particular are discussed.

The aim of the present study was to assess the long-term impact of carrier screening for cystic fibrosis. The impact of being identified as a carrier for cystic fibrosis was assessed through three questionnaires measuring the emotional responses, changes in reproductive attitudes and decisions, retention of the result, and sharing of the information about the result with relatives. The questionnaires were sent to 160 women identified as carriers between 1990 and 1992 and to 200 randomly selected women with a negative result. Carriers became surprised, anxious and worried upon receipt of their result. However, this response disappeared once the partners had been tested and found negative. No sign of residual anxiety was found among carriers who answered the third questionnaire in November 1994. Carriers freely shared the information about their result with relatives, friends, and general practitioners. Few carriers changed their reproductive plans or attitudes to abortion of a foetus with CF due to the result. No decline in fertility or change in reproductive pattern were observed among carriers after testing. The imperfect sensitivity of the carrier test caused some misunderstanding in the retention of the result. This may reflect inadequacies in the information and counselling. Psychological factors are also believed to contribute to the misunderstanding of the result. The information should be improved to avoid false reassurance.

Total prevention of cystic fibrosis (CF) is possible if all carrier women are found before pregnancy or early enough during pregnancy so that prenatal diagnosis can be offered. The delta 508 allele constitutes almost 90% of the mutations causing CF in the Danish population. We have examined 6599 pregnant women and found 172 carriers of delta F508. Partners of carrier women were examined for delta F508 and five other mutations. Three couples at risk and one foetus with CF were identified. Giving information to couples before and after testing is time consuming. A comprehensive questionnaire was sent to 200 non-carriers and all 172 carriers (response rate 72%). It can be concluded that the project has been very well accepted. However, the majority of carriers were shocked or very worried when they had the test result. Based on this pilot study we recommend nationwide screening for delta F508 early in pregnancy.

As it is possible to prevent progression of the disease by early treatment all patients with otherwise unexplained retinitis pigmentosa should be screened for phytanic acid accumulation in the plasma.