Liège University Hospital is breaking new ground with the Baby Detect study, dedicated to genomic neonatal screening. Published in the journal Nature Medicine, it targets 165 rare diseases using DNA sequencing. With more than 5,800 newborns included, the promising results confirm its effectiveness and acceptance by parents.
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he initial results of the Baby Detect study, conducted by the team led by Professor Laurent Servais of Liège University Hospital (Centre de Reference des Maladies Neuromusculaires) and Professor François Boemer (Department of Genetics, Professor Vincent Bours), have been published in the prestigious scientific journal Nature Medicine
This international recognition marks a major step forward in neonatal screening research, with more than 5,800 newborns enrolled since the study began in September 2022.
Advanced screening to detect 165 rare diseases that can be treated
Using targeted DNA sequencing, the Baby Detect study focuses on detecting 165 rare paediatric diseases for which treatment or care is available. This process makes it possible to detect serious pathologies at an early stage, paving the way for rapid treatments that often have a decisive impact on the health of the children concerned.
Promising results
After 18 months of research, the initial results underline the usefulness of this screening, which complements the current systematic screening for 23 diseases, known as the Guthrie test. The rate of positive cases detected by the Baby Detect test is estimated at 0.5% and 1.8%, representing between 500 and 2,000 babies a year in Belgium if the test were extended to all newborns.
These figures demonstrate the potential of such screening to improve the diagnosis and early management of rare diseases in newborns.
A feasible study, well-accepted by parents
In addition to proving the effectiveness of the test, the Baby Detect study has demonstrated its feasibility and high level of acceptance among parents, with a study participation rate of over 90%, a sign of growing interest in this type of screening in Belgium.
Professor Servais commented: "This is a major step forward in the fight against rare diseases. Thanks to Baby Detect, early screening gives parents a unique opportunity to detect rare but treatable diseases and to act quickly to guarantee the best possible quality of life for their children while avoiding the sometimes serious and irreversible consequences if treatment is delayed. In this way, the CHU de Liège is positioning itself at the forefront of neonatal screening worldwide."
Professor Boemer: "Advances in genetics and sequencing are opening up new prospects for preventive medicine. With Baby Detect, we are focusing on newborn babies to complement current biochemical screening. The two methods are perfectly complementary".
An innovative and available test with prospects for treatment
Following these conclusive results, the Baby Detect test is now available to all maternity units wishing to offer it to parents during childbirth. The CHU de Liège invoices for it at €650, payable by the parents. Steps are currently being taken to obtain reimbursement for this screening by insurance organisations, which would make this advance accessible to a larger number of families.
Donner aux individus les moyens de vivre une vie saine et promouvoir le bien-être à tous les âges Le troisième objectif vise à assurer la santé et le bien-être de tous, en améliorant la santé procréative, maternelle et infantile, en réduisant les principales maladies transmissibles, non transmissibles, environnementales et mentales.
All three scientists are members of the GIGA Institute and are receiving this grant for their ambitious projects in paediatric neuroscience and oncology.
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