LNS Medical Biology Department working intensively on the expansion of newborn screening in Luxembourg

Currently in Luxembourg, five diseases are screened at day 3 of life. The LNS Medical Biology Department is responsible for analyses done in the context of the newborn screening programme and is highly committed to the extension of neonatal screening in Luxembourg.

Newborn screening for a better quality of life

The five diseases which are systematically screened at birth in Luxembourg are: phenylketonuria, congenital hypothyroidism, congenital adrenal hyperplasia, MCAD deficiency, and mucoviscidosis. The main requirements regarding choice of these diseases, historically based on the Wilson and Jungner criteria, published by the World Health Organisation (WHO) in 1968, are that the disease must represent a significant health problem and that there is an accepted treatment for patients with recognized disease.

Medical Biology Department highly implicated in Plan National Maladies Rares (PNMR) working groups to push for extension of newborn screening

The PNMR consists of different working groups, with one specifically dedicated to addressing the prevention of rare diseases. The involvement of the LNS’ Medical Biology Department in this particular working group is crucial, as it plays a vital role in advocating for government action on various projects, particularly in the area of newborn screening.

In January 2022, the initiation of screening for congenital heart diseases at birth was made possible through the collaborative efforts of the Neonatal screening working group and the Health Directorate. This screening method, known as saturometry screening, has been recommended and implemented in various programs worldwide, including Luxembourg. Each of the four maternity wards in the country is equipped with an oxygen saturation measuring device to identify potential heart diseases in newborns. This screening programme is being carried out with the support of the Association Luxembourgeoise d’Aide aux Enfants Cardiaques (ALAEC).