Clinical trial · Observational
Baby Detect : Genomic Newborn Screening
Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (124)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| 3-Hydroxy 3-Methyl Glutaric Aciduria | — | UNRESOLVED | — |
| 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency | — | UNRESOLVED | — |
| Aciduria, Argininosuccinic | — | UNRESOLVED | — |
| Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of | — | UNRESOLVED | — |
| Adrenoleukodystrophy | — | UNRESOLVED | — |
| Alpha 1-Antitrypsin Deficiency | — | UNRESOLVED | — |
| Alpha-Thalassemia | — | UNRESOLVED | — |
| Alport Syndrome | — | UNRESOLVED | — |
| Andersen Tawil Syndrome | — |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (1)
- label
- Newborns with consent
- description
- Newborns with parent's consent
Primary outcomes (3)
- measure
- Acceptability
- timeFrame
- through study completion, an average of 1 year
- description
- The percentage of parents accepting the proposed screening in comparison with the number of mothers approached for consent
- measure
- Feasibility - timing
- timeFrame
- through study completion, an average of 1 year
- description
- The Turn-around time for the different mutations that are screened
- measure
- Feasibility - reliability
- timeFrame
- through study completion, an average of 1 year
Eligibility
Eligibility (as posted)
- Sex
- All
- Maximum age
- 28 Days
Show eligibility criteria text
Inclusion Criteria: * newborn between birth and 28 days of life * consent of parent Exclusion Criteria: * \+ 28 days * Non consent of parent
References
Publications (2)
- BACKGROUNDBoemer F, Hovhannesyan K, Piazzon F, Minner F, Mni M, Jacquemin V, Mashhadizadeh D, Benmhammed N, Bours V, Jacquinet A, Harvengt J, Bulk S, Dideberg V, Helou L, Palmeira L, Dangouloff T; BabyDetect Expert Panel; Servais L. Population-based, first-tier genomic newborn screening in the maternity ward. Nat Med. 2025 Apr;31(4):1339-1350. doi: 10.1038/s41591-024-03465-x. Epub 2025 Jan 28. PMID 39875687
- BACKGROUNDDangouloff T, Hovhannesyan K, Mashhadizadeh D, Minner F, Mni M, Helou L, Piazzon F, Palmeira L, Boemer F, Servais L. Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium. Children (Basel). 2024 Jul 30;11(8):926. doi: 10.3390/children11080926. PMID 39201861