Baby Detect : Genomic Newborn Screening

October 24, 2023 updated by: Laurent Servais, Centre Hospitalier Régional de la Citadelle

Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect

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.

Study Overview




Detailed Description

Every year, thousands of children around the world are born with rare genetic diseases leading to death or lifelong disability. With technological advancements in the field of genetics and medicine, the rate of introduction of treatments for these rare conditions has grown remarkably.

However, timing is of great importance for medication administration. The benefit that can be measured in a patient who has already suffered from a long irreversible degenerative disorder is small and, sometimes, it hardly justifies the cost and the burden of the treatment. Early diagnosis is, thus, of primary importance both to obtain the best effect of the innovative medications and to accelerate their development.

The investigators are pioneered in the field of genetic newborn screening (NBS) in rare diseases by funding, designing, and leading an innovative genetic NBS program initiated in March 2018 in Southern Belgium for Spinal Muscular Atrophy (SMA) that allowed, so far, for 11 children to be detected and treated early and avoid the terrible fate of the disease. The program was disseminated in 17 countries and included public dissemination and health-economic analysis since the very beginning [1]. (

Drawing upon our experience with SMA screening, the investigators have designed a project to screen up to 40,000 newborns/year progressively in 3 years for virtually all the rare diseases that can benefit from treatment or a pre-symptomatic clinical trial.

The methodology of Baby Detect includes sequencing of target genes on dried blood spots collected from the NBS cards in a timely and cost-efficient manner, and its high dynamicity allows for any newly treatable rare disease to be included in its scheme in no longer than 6 months.

Baby Detect, as a multidisciplinary newborn screening program, involves expertise in areas from genetics and medicine to laboratory studies, computer science, Data Protection, Ethics, and health economy. It will constitute the proof of concept that is needed before moving to a whole region-scale population.

Study Type


Enrollment (Estimated)


Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 4 weeks (Child)

Accepts Healthy Volunteers


Sampling Method

Non-Probability Sample

Study Population

Newborns whose mothers and/or the second-parents meet the inclusion criteria and have provided their consent to take part in the study


Inclusion Criteria:

  • newborn between birth and 28 days of life
  • consent of parent

Exclusion Criteria:

  • + 28 days
  • Non consent of parent

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Other
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Newborns with consent
Newborns with parent's consent

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Time Frame: through study completion, an average of 1 year
The percentage of parents accepting the proposed screening in comparison with the number of mothers approached for consent
through study completion, an average of 1 year
Feasibility - timing
Time Frame: through study completion, an average of 1 year
The Turn-around time for the different mutations that are screened
through study completion, an average of 1 year
Feasibility - reliability
Time Frame: through study completion, an average of 1 year
The percentage of false positives and the predicted value for each test The estimation of the false negatives through collaboration with physicians treating the different diseases.
through study completion, an average of 1 year

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Consequence of NBS on early treatment access - timing
Time Frame: through study completion, an average of 1 year
The time passed between the birth of diagnostic-positive newborns to the initiation of their treatment
through study completion, an average of 1 year
Consequence of NBS on early treatment access - frequency
Time Frame: through study completion, an average of 1 year
The number of patients offered early treatment
through study completion, an average of 1 year
To improve the detection technique for disease related mutations that are not detected in classical screening by improving the classification of unspecified variants.
Time Frame: through study completion, an average of 1 year
The number of new mutations implemented yearly in the NBS.
through study completion, an average of 1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.


  • Principal Investigator: Laurent Servais, Centre Hospitalier Universitaire de Liège

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 1, 2022

Primary Completion (Estimated)

August 31, 2025

Study Completion (Estimated)

August 31, 2025

Study Registration Dates

First Submitted

December 28, 2022

First Submitted That Met QC Criteria

January 13, 2023

First Posted (Actual)

January 18, 2023

Study Record Updates

Last Update Posted (Actual)

October 25, 2023

Last Update Submitted That Met QC Criteria

October 24, 2023

Last Verified

October 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2021-239

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product


Studies a U.S. FDA-regulated device product


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