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.
Who can participate
Age range
28 Days
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
* newborn between birth and 28 days of life
* consent of parent
Exclusion Criteria:
* \+ 28 days
* Non consent of parent
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1This trial tested a genomic newborn screening approach covering over 100 rare conditions — since the study is now completed, has my baby's care team seen or had access to any of its findings, and could those results change how my newborn is screened today?
2Because this was listed as Phase NA and was measuring acceptability and feasibility rather than treatment outcomes, does that mean it wasn't testing whether genomic screening actually improves health outcomes for babies — and if so, what do we actually know about whether finding these conditions earlier through genomics leads to better results?
3Several conditions in this trial, like severe combined immune deficiency and hemophilia, are already on standard newborn screening panels — so can you help me understand what this genomic approach was trying to add or improve compared to the biochemical screening my baby already gets at birth?
4Since this trial is completed, is there any way to find out what the researchers concluded about whether genomic newborn screening is practical and acceptable, and whether any hospitals are currently offering this kind of expanded screening based on those findings?
5Some of the conditions screened for in this trial, like metachromatic leukodystrophy or adrenoleukodystrophy, have treatments that work best if started very early — given that, is there a way for our family to access more comprehensive newborn genomic screening now, or is that still considered experimental?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Acceptability
Timeframe: through study completion, an average of 1 year
2
Feasibility - timing
Timeframe: through study completion, an average of 1 year
3
Feasibility - reliability
Timeframe: through study completion, an average of 1 year