Baby Detect : Genomic Newborn Screening (BabyDetect)

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

• Status: Completed
• Conditions: Congenital Adrenal Hyperplasia; Hemophilia A; Hemophilia B; Mucopolysaccharidosis I; Mucopolysaccharidosis II; Cystic Fibrosis; Alpha 1-Antitrypsin Deficiency; Sickle Cell Disease; Fanconi Anemia; Chronic Granulomatous Disease; Wilson Disease; Severe Congenital Neutropenia; Ornithine Transcarbamylase Deficiency; Mucopolysaccharidosis VI; Lysosomal Acid Lipase Deficiency; Wiskott-Aldrich Syndrome; Propionic Acidemia; Adrenoleukodystrophy; Glycogen Storage Disease; Metachromatic Leukodystrophy; Crigler-Najjar Syndrome; Galactosemias; Pompe Disease; Shwachman-Diamond Syndrome; Congenital Hypothyroidism; Alpha-Thalassemia; Biotinidase Deficiency; Diamond Blackfan Anemia; Chediak-Higashi Syndrome; Catecholaminergic Polymorphic Ventricular Tachycardia; Cystinosis; X Linked Hypophosphatemia; Aromatic L-amino Acid Decarboxylase Deficiency; Gaucher Disease, Type 1; Mucopolysaccharidosis IV A; Alport Syndrome; Smith-Lemli-Opitz Syndrome; Mucopolysaccharidosis VII; Primary Hyperoxaluria; Griscelli Syndrome; Dopamine Beta Hydroxylase Deficiency; Glut1 Deficiency Syndrome; Maple Syrup Urine Disease; Congenital Myasthenic Syndrome; Jervell-Lange Nielsen Syndrome; Menkes Disease; Homocystinuria; Progressive Familial Intrahepatic Cholestasis; Ataxia With Vitamin E Deficiency; Glycine Encephalopathy; Pseudohypoaldosteronism Type 1; Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency; Familial Chylomicronemia; Familial Hemophagocytic Lymphocytosis; Glucose 6 Phosphate Dehydrogenase Deficiency; Citrullinemia 1; Glutaric Acidemia I; Phosphoglucomutase 1 Deficiency; Tyrosinemia, Type I; Familial Hyperinsulinemic Hypoglycemia 1; Maturity Onset Diabetes of the Young; Hypophosphatasia, Infantile; Pituitary Hormone Deficiency, Combined; Inflammatory Bowel Disease 25, Autosomal Recessive; Thiamine-Responsive Megaloblastic Anemia; Thiamine Metabolism Dysfunction Syndrome 2; Cerebral Folate Transport Deficiency; Segawa Syndrome, Autosomal Recessive; Sepiapterin Reductase Deficiency; Late-Infantile Neuronal Ceroid Lipofuscinosis; Charcot-Marie-Tooth Disease, Type 6C; Hereditary Hyperekplexia; Brain Dopamine-Serotonin Vesicular Transport Disease; Very Long Chain Hydroxy Acyl Dehydrogenase Deficiency; Disaccharide Intolerance I; Beta Ketothiolase Deficiency; Phosphoglycerate Dehydrogenase Deficiency; Pyridoxine-5'-Phosphate Oxidase Deficiency; Pyridoxine-Dependent Epilepsy; Phenylalanine Hydroxylase Deficiency; Riboflavin Deficiency; Medium Chain Acyl CoA Dehydrogenase Deficiency; Malonic Acidemia; Isovaleric Acidemia; Phosphoserine Aminotransferase Deficiency; Phosphoserine Phosphatase Deficiency; Hyperornithinemia-Hyperammonemia-Homocitrullinuria; S-Adenosylhomocysteine Hydrolase Deficiency; Transcobalamin Deficiency; Isolated Methylmalonic Acidemia; Cobalamin Deficiency; Holocarboxylase Synthetase Deficiency; Fanconi Bickel Syndrome; Glucose Galactose Malabsorption; Fructosemia; Fructose-1,6-Diphosphatase Deficiency; Carbamoyl Phosphate Synthase 1 Deficiency; Citrullinemia Type II; Creatine Deficiency Syndrome; Systemic Primary Carnitine Deficiency; Carnitine Palmitoyltransferase Deficiency 2; Carnitine Palmitoyltransferase Deficiency 1; Carnitine Acylcarnitine Translocase Deficiency; Riboflavin Transporter Deficiency; Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency; Andersen Tawil Syndrome; Timothy Syndrome; Familial Hypertrophic Cardiomyopathy Type 4; Pseudohypoaldosteronism, Type II; Hereditary Nephrogenic Diabetes Insipidus; Congenital Nephrotic Syndrome, Finnish Type; Hereditary Retinoblastoma; Aciduria, Argininosuccinic; 3-Hydroxy 3-Methyl Glutaric Aciduria; 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency; Argininemia; Deficit in Anterior Pituitary Function and Variable Immunodeficiency; Severe Combined Immune Deficiency; Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type); Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type); Deficiency of GOT2; Succinyl-Coa:3-Ketoacid Coa-Transferase Deficiency; N Acetyl Glutamate Synthetase Deficiency; Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of

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]. (www.facebook.com/sunmayariseonsma).

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: Observational
• Enrollment (Actual): 6824

Contacts and Locations

Study Locations

• Belgium
  • Wallonia
    • Liege, Wallonia, Belgium, 4000
      • CRMN, Hôpital La Citadelle

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 4 weeks (Child)
• Accepts Healthy Volunteers: Yes

• 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

Description

Inclusion Criteria:

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

Exclusion Criteria:

• + 28 days
• Non consent of parent

Study Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Prospective

Number of groups / cohorts

1

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
Acceptability	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	The Turn-around time for the different mutations that are screened	through study completion, an average of 1 year
Feasibility - reliability	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	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	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.	The number of new mutations implemented yearly in the NBS.	through study completion, an average of 1 year

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire de Liege
• Collaborators: Sanofi; Takeda; University of Liege; Orchard Therapeutics; Centre Hospitalier Régional de la Citadelle; Zentech-Lacar Company; Leon Fredericq Foundation
• Investigators: Principal Investigator: Laurent Servais, Centre Hospitalier Universitaire de Liège

Publications and helpful links

General Publications

• Dangouloff 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.
• Boemer 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.

Helpful Links

• Related Info

Study record dates

Study Major Dates

• Study Start (Actual): September 1, 2022
• Primary Completion (Actual): June 2, 2025
• Study Completion (Actual): June 2, 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): August 12, 2025
• Last Update Submitted That Met QC Criteria: August 7, 2025
• Last Verified: August 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Aortic Valve Disease; Cardiac Conduction System Disease; Congenital Bone Marrow Failure Syndromes; Bone Marrow Failure Disorders; Primary Immunodeficiency Diseases; Urogenital Diseases; Cytopenia; Neurologic Manifestations; Endocrine System Diseases; Bone Diseases; Musculoskeletal Diseases; Stomatognathic Diseases; Central Nervous System Diseases; Nervous System Diseases; Cardiovascular Diseases; Pathologic Processes; Nutrition Disorders; Neoplasms by Site; Neoplasms; Male Urogenital Diseases; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Heart Diseases; Neuromuscular Diseases; Chronic Disease; Disease Attributes; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Intestinal Diseases; Connective Tissue Diseases; Autoimmune Diseases; Immune System Diseases; Respiratory Tract Diseases; Peripheral Nervous System Diseases; Neoplasms by Histologic Type; Disease; Arrhythmias, Cardiac; Digestive System Diseases; Gastrointestinal Diseases; Neurobehavioral Manifestations; Lung Diseases; Infant, Newborn, Diseases; Glucose Metabolism Disorders; Eye Diseases; Leukocyte Disorders; Hematologic Diseases; Autoimmune Diseases of the Nervous System; Demyelinating Diseases; Pancreatic Diseases; Biliary Tract Diseases; Neurodegenerative Diseases; Liver Diseases; Neoplasms, Glandular and Epithelial; Heart Valve Diseases; Gonadal Disorders; Skin Diseases; Gastroenteritis; Eye Diseases, Hereditary; Lymphatic Diseases; Bone Diseases, Metabolic; Congenital Abnormalities; Phosphorus Metabolism Disorders; Hyperinsulinism; Neoplasms, Neuroepithelial; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms, Nerve Tissue; Blood Coagulation Disorders; Hair Diseases; Bone Marrow Diseases; Cardiovascular Abnormalities; Heart Defects, Congenital; Movement Disorders; Abnormalities, Multiple; Myasthenia Gravis; Paraneoplastic Syndromes, Nervous System; Nervous System Neoplasms; Paraneoplastic Syndromes; Neuromuscular Junction Diseases; Heredodegenerative Disorders, Nervous System; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Adrenal Gland Diseases; Hemorrhagic Disorders; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Hemoglobinopathies; Mental Retardation, X-Linked; Intellectual Disability; Genetic Diseases, X-Linked; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Basal Ganglia Diseases; Spinal Cord Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Amino Acid Metabolism, Inborn Errors; Bile Duct Diseases; Blood Coagulation Disorders, Inherited; Coagulation Protein Disorders; Nervous System Malformations; Disorders of Sex Development; Urogenital Abnormalities; Steroid Metabolism, Inborn Errors; Leukopenia; Hereditary Central Nervous System Demyelinating Diseases; Leukoencephalopathies; Thyroid Diseases; Lipid Metabolism, Inborn Errors; Hyperlipoproteinemias; Avitaminosis; Deficiency Diseases; Malnutrition; Hypothalamic Diseases; Eye Neoplasms; DNA Repair-Deficiency Disorders; Phagocyte Bactericidal Dysfunction; Bone Diseases, Endocrine; Retinal Diseases; Bone Diseases, Developmental; Retinal Neoplasms; Nephritis; Metal Metabolism, Inborn Errors; Lysosomal Storage Diseases, Nervous System; Collagen Diseases; Histiocytosis, Non-Langerhans-Cell; Mitochondrial Diseases; Subcutaneous Emphysema; Emphysema; Histiocytosis; Albinism; Agranulocytosis; Rickets, Hypophosphatemic; Rickets; Hypophosphatemia, Familial; Renal Tubular Transport, Inborn Errors; Calcium Metabolism Disorders; Vitamin D Deficiency; Acid-Base Imbalance; Leukocytosis; Anemia, Hypoplastic, Congenital; Red-Cell Aplasia, Pure; Exocrine Pancreatic Insufficiency; Lipomatosis; Dwarfism; Sphingolipidoses; Lipidoses; Urea Cycle Disorders, Inborn; Anemia, Aplastic; Adrenal Insufficiency; Sulfatidosis; Hyperhomocysteinemia; Hyperoxaluria; Hyperbilirubinemia, Hereditary; Long QT Syndrome; Lymphopenia; Anemia, Macrocytic; Vitamin B Deficiency; Cholesterol Ester Storage Disease; Peroxisomal Disorders; Fructose Metabolism, Inborn Errors; Shwachman-Diamond Syndrome; Hyperekplexia; Syndrome; Hypoglycemia; Diabetes Mellitus, Type 2; Hypophosphatemia; Hyperplasia; Diabetes Mellitus; Lambert-Eaton Myasthenic Syndrome; Myasthenic Syndromes, Congenital; Polyneuropathies; Anemia, Sickle Cell; Cardiomyopathies; Cardiomyopathy, Hypertrophic; Mucopolysaccharidoses; Phenylketonurias; Immunologic Deficiency Syndromes; Hemophilia A; Thalassemia; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Brain Diseases; Anemia; alpha-Thalassemia; Pituitary Diseases; Severe Combined Immunodeficiency; Granulomatous Disease, Chronic; Mucopolysaccharidosis II; Mucopolysaccharidosis I; Mucopolysaccharidosis VI; Retinoblastoma; Inflammatory Bowel Diseases; Cholestasis; Cystic Fibrosis; Hemophilia B; Tooth Diseases; Charcot-Marie-Tooth Disease; Nerve Compression Syndromes; Hereditary Sensory and Motor Neuropathy; Hypophosphatasia; Hepatolenticular Degeneration; Glycogen Storage Disease Type II; Glycogen Storage Disease; Tachycardia; Tachycardia, Ventricular; Alpha 1-Antitrypsin Deficiency; Neutropenia; Familial Hypophosphatemic Rickets; Propionic Acidemia; Acidosis; Nephrotic Syndrome; Nephrosis; Lymphocytosis; Pseudohypoaldosteronism; Cystinosis; Fanconi Syndrome; Fanconi Anemia; Anemia, Diamond-Blackfan; Hypothyroidism; Lymphohistiocytosis, Hemophagocytic; Smith-Lemli-Opitz Syndrome; Ornithine Carbamoyltransferase Deficiency Disease; Nephritis, Hereditary; Gaucher Disease; Maple Syrup Urine Disease; Diabetes Insipidus; Cholestasis, Intrahepatic; Stiff-Person Syndrome; Neuronal Ceroid-Lipofuscinoses; Adrenoleukodystrophy; Leukodystrophy, Metachromatic; Mucopolysaccharidosis VII; Homocystinuria; Hyperlipoproteinemia Type I; Hyperoxaluria, Primary; Crigler-Najjar Syndrome; Congenital Hyperinsulinism; Nesidioblastosis; Chediak-Higashi Syndrome; Tyrosinemias; Osteochondrodysplasias; Mucopolysaccharidosis IV; Glucosephosphate Dehydrogenase Deficiency; Jervell-Lange Nielsen Syndrome; Wiskott-Aldrich Syndrome; Hyperammonemia; Congenital Hypothyroidism; Biotinidase Deficiency; Wolman Disease; Galactosemias; Vitamin B 12 Deficiency; Citrullinemia; Diabetes Insipidus, Nephrogenic; Andersen Syndrome; Menkes Kinky Hair Syndrome; Hyperglycinemia, Nonketotic; Carbamoyl-Phosphate Synthase I Deficiency Disease; Argininosuccinic Aciduria; Cardiomyopathy, Hypertrophic, Familial; Anemia, Megaloblastic; Holocarboxylase Synthetase Deficiency; Multiple Carboxylase Deficiency; Fructose-1,6-Diphosphatase Deficiency; Vitamin E Deficiency; Riboflavin Deficiency
• Other Study ID Numbers: Baby Detect

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No