Related Experiment Video
Updated: Jan 2, 2026

Noninvasive Sampling of Mucosal Lining Fluid for the Quantification of In Vivo Upper Airway Immune-mediator Levels
Published on: August 7, 2017
Serum Newborn Screening Blood Metabolites Are not Associated With Childhood-onset Inflammatory Bowel Disease: A
M Ellen Kuenzig1,2,3, Steven Hawken3,4,5,6, Kumanan Wilson3,5,7,6
1Inflammatory Bowel Disease Centre, Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Eastern Ontario (CHEO), Ottawa, ON, Canada.
Insights
Newborn screening metabolite profiles did not predict childhood inflammatory bowel disease (IBD). Further research with expanded metabolite panels may improve prediction for early IBD detection.
Area of Science:
- Metabolomics
- Pediatric Gastroenterology
- Public Health
Background:
- Newborn screening (NBS) identifies metabolic disorders.
- NBS metabolite profiles have been linked to prematurity and childhood illnesses.
- The potential of NBS metabolites to predict childhood inflammatory bowel disease (IBD) is unknown.
Purpose of the Study:
- To investigate if routine newborn screening (NBS) metabolite profiles can identify infants who later develop inflammatory bowel disease (IBD).
Main Methods:
- Population-based matched case-control study using Ontario health administrative data (2006-2015).
- Identified 308 children with IBD and matched them to 1540 controls.
- Utilized lasso penalized logistic regression and 10-fold cross-validation on NBS metabolic profiles and clinical data.
Main Results:
- No individual metabolites were significantly associated with IBD diagnosis.
- The predictive model achieved a c-statistic of 0.50, indicating no significant association.
- Newborn screening metabolites could not identify children who developed IBD.
Conclusions:
- Current newborn screening (NBS) serum metabolites are insufficient for predicting childhood inflammatory bowel disease (IBD).
- Expanded metabolite panels in future studies may enhance the prediction of IBD development.
Background:
Originally used for screening of inborn errors of metabolism, routine metabolite profiles of newborns have also been associated with prematurity and some childhood diseases. We sought to determine whether metabolites measured during routine newborn screening could identify infants who develop inflammatory bowel disease (IBD) in childhood.
Methods:
We conducted a population-based matched case-control study using health administrative data from Ontario, Canada. Children born 2006 to 2015 with IBD were identified using a validated algorithm and matched to 5 controls based on birth date, sex, rural/urban household, and mean neighborhood income quintile at birth. Cases and controls were linked deterministically to metabolic profiles from Newborn Screening Ontario. We fit a lasso penalized logistic regression model and used 10-fold cross-validation to obtain internally valid performance measures. Models included metabolites, amino acids, and endocrine markers. Models also included ratios of metabolites, gestational age, birth weight, mode of delivery, age at serum collection, maternal age at delivery, maternal history of IBD, and parity.
Results:
Three hundred eight cases of IBD, diagnosed at 5.5 ± 2.8 years, were matched to 1540 controls. No individual metabolites were associated with IBD. The c-statistic was 0.50 for the training data. After 10-fold cross-validation the C statistic was 0.50, indicating no significant association between metabolites and IBD diagnosis.
Conclusions:
Newborn screening serum metabolites could not identify children who will develop IBD in this population-based cohort. Future studies with an expanded panel of metabolites may provide improved prediction of IBD.
Related Concept Videos
Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the...
Serum Laboratory Studies, Stool Test, Breath Test
Inflammatory Bowel Disease II: Crohn's Disease
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
Pharmacokinetics in Pediatric Patients: Drug Metabolism
Inflammatory Bowel Disease I: Ulcerative Colitis
Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
Risk Factors
The exact cause of IBD remains unclear, although it is believed to be due to a mix of genetic, environmental, microbial, and immune factors. Genetic factors are significant in determining susceptibility to IBD, with family history being a critical risk factor. Individuals with a first-degree relative who has IBD are at...

