Related Experiment Video

Updated: Jun 20, 2026

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
05:56

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

Published on: August 29, 2025

Growth monitoring to detect children with cystic fibrosis

Paula van Dommelen1, Floor K Grote, Wilma Oostdijk

  • 1Department of Statistics, TNO Quality of Life, Leiden, The Netherlands. Paula.vanDommelen@tno.nl

Hormone Research
|September 30, 2009
PubMed

Insights

Failure to thrive (FTT) in children may indicate cystic fibrosis (CF) in countries without newborn screening. A combination of low BMI SDS and decreasing BMI SDS can help identify potential CF cases for further testing.

Area of Science:

  • Pediatrics
  • Genetics
  • Medical Diagnostics

Background:

  • Cystic fibrosis (CF) often presents with failure to thrive (FTT) in infants and children.
  • In regions lacking newborn CF screening, FTT could serve as a clinical indicator.

Purpose of the Study:

  • To evaluate the effectiveness of FTT as a screening method for identifying CF in children.
  • To assess the diagnostic performance of FTT for detecting CF in the absence of newborn screening programs.

Main Methods:

  • Utilized longitudinal growth data (length, weight, BMI SDS) up to 2.5 years for CF patients (n=123) and controls (n=2,151).
  • Developed and tested five screening rules based on standardized growth parameters.
  • Measured sensitivity, specificity, and positive predictive value (PPV) of the screening rules.

Main Results:

  • Body Mass Index (BMI) standardized deviation score (SDS) demonstrated high sensitivity with low false-positive rates.
  • An effective screening scenario identified: BMI SDS below -2.5 and a decrease of at least 0.5 SDS.
  • This scenario achieved 32% sensitivity, 98.3% specificity, and 0.75 PPV.

Conclusions:

  • Children exhibiting FTT, specifically concerning BMI, warrant consideration for cystic fibrosis testing.
  • FTT can be a valuable clinical screening tool for CF in populations without established newborn screening protocols.
Abstract

More Related Videos

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study08:00

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study

Published on: April 11, 2018

Rectal Organoid Morphology Analysis (ROMA): A Diagnostic Assay in Cystic Fibrosis07:56

Rectal Organoid Morphology Analysis (ROMA): A Diagnostic Assay in Cystic Fibrosis

Published on: June 10, 2022

Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic sinusitis...