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Sponsor: Centre Hospitalier Universitaire de Liege
Conditions: Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young, Cystic Fibrosis
Countries: Belgium
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.
Sex: ALL
Age: — to 28 Days
Healthy volunteers: Yes
Study type: OBSERVATIONAL
Inclusion Criteria: * newborn between birth and 28 days of life * consent of parent Exclusion Criteria: * \+ 28 days * Non consent of parent
- Liège, Wallonia, Belgium