Paeds · preventive-and-community-paediatrics
Screening test principles in children
Also known as Paediatric screening principles · Wilson Jungner children · Population screening paediatrics · False positive screening children · Predictive value low prevalence
Fellowship guide to screening test principles in children: programme criteria, sensitivity specificity and PPV in low prevalence, false-positive harm, two-step pathways, consent, net benefit, and ANZ/UK/US/Canada governance differences without duplicating bloodspot, hearing or developmental tool chapters.
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Overview & Definition
A parent holds a healthy newborn and asks why the heel-prick and hearing check are needed “when nothing is wrong.” The clinical answer is simple: some serious conditions start quietly. If you wait for symptoms, the chance to protect the brain, hearing or metabolism may already be smaller. Screening means offering a test to children who look well, aiming to find disease or high risk early enough that a planned action improves outcome. [4] [22]
That sentence hides three traps. First, screening is not diagnostic testing of a sick child. Second, a positive screen is a flag, not a label. Third, a negative screen reduces risk; it does not make risk zero. Examiners listen for those three distinctions. [4] [5] [17]
A screening pathway is the full chain: invitation and information, consent, the index test, interpretation, timely confirmatory testing, treatment or surveillance, and programme audit. If any link is missing, the “screen” is incomplete even when the swab or blot looks perfect. [2] [3]
Five questions before you offer any paediatric screen
Is the condition important?
Serious enough, early enough, and common enough in this group to justify looking.
Is there an acceptable accurate test?
Workable in real children, with known sensitivity and specificity.
Does early action help?
Treatment or prevention started after screen must beat waiting for symptoms.
Is the pathway ready?
Confirmatory tests, specialists, drugs and follow-up must exist now—not next year.
Is net benefit clear after harms?
Count false positives, anxiety, overdiagnosis, cost and equity—not only true positives found.
You have read the opening of this topic. The complete unit — every section and its primary-source references — is part of the Paediatrics Fellowship fellowship atlas.
References24Show ledgerHide ledger
- [1]Andermann A Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years Bulletin of the World Health Organization, 2008.PMID 18438522
- [2]Dobrow MJ Consolidated principles for screening based on a systematic review and consensus process CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne, 2018.PMID 29632037
- [3]Harris R Reconsidering the criteria for evaluating proposed screening programs: reflections from 4 current and former members of the U.S. Preventive services task force Epidemiologic reviews, 2011.PMID 21666224
- [4]Grimes DA Uses and abuses of screening tests Lancet (London, England), 2002.PMID 11897304
- [5]Akobeng AK Understanding diagnostic tests 1: sensitivity, specificity and predictive values Acta paediatrica (Oslo, Norway : 1992), 2007.PMID 17407452
- [6]Akobeng AK Understanding diagnostic tests 2: likelihood ratios, pre- and post-test probabilities and their use in clinical practice Acta paediatrica (Oslo, Norway : 1992), 2007.PMID 17306009
- [7]Akobeng AK Understanding diagnostic tests 3: Receiver operating characteristic curves Acta paediatrica (Oslo, Norway : 1992), 2007.PMID 17376185
- [8]Deeks JJ Diagnostic tests 4: likelihood ratios BMJ (Clinical research ed.), 2004.PMID 15258077
- [9]Fagan TJ Letter: Nomogram for Bayes's theorem The New England journal of medicine, 1975.PMID 1143310
- [10]Pauker SG The threshold approach to clinical decision making The New England journal of medicine, 1980.PMID 7366635
- [11]Maxim LD Screening tests: a review with examples Inhalation toxicology, 2014.PMID 25264934
- [12]Barratt A Users' guides to the medical literature: XVII. How to use guidelines and recommendations about screening. Evidence-Based Medicine Working Group JAMA, 1999.PMID 10359392
- [13]Jaeschke R Users' guides to the medical literature. III. How to use an article about a diagnostic test. B. What are the results and will they help me in caring for my patients? The Evidence-Based Medicine Working Group JAMA, 1994.PMID 8309035
- [14]Tluczek A Psychosocial consequences of false-positive newborn screens for cystic fibrosis Qualitative health research, 2011.PMID 20852016
- [15]Størdal K Overtesting and overtreatment-statement from the European Academy of Paediatrics (EAP) European journal of pediatrics, 2019.PMID 31506723
- [16]Jankauskaite L Overuse of medical care in paediatrics: A survey from five countries in the European Academy of Pediatrics Frontiers in pediatrics, 2022.PMID 36177454
- [17]Newman-Toker DE A unified conceptual model for diagnostic errors: underdiagnosis, overdiagnosis, and misdiagnosis Diagnosis (Berlin, Germany), 2014.PMID 28367397
- [18]Bossuyt PM STARD 2015: an updated list of essential items for reporting diagnostic accuracy studies BMJ (Clinical research ed.), 2015.PMID 26511519
- [19]Whiting PF QUADAS-2: a revised tool for the quality assessment of diagnostic accuracy studies Annals of internal medicine, 2011.PMID 22007046
- [20]Kemper AR Decision-making process for conditions nominated to the recommended uniform screening panel: statement of the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children Genetics in medicine : official journal of the American College of Medical Genetics, 2014.PMID 23907646
- [21]Goldenberg AJ Evaluating Harms in the Assessment of Net Benefit: A Framework for Newborn Screening Condition Review Maternal and child health journal, 2016.PMID 26833040
- [22]Schielen PCJI Historical Appreciation of World Health Organization's Public Health Paper-34: Principles and Practice of Screening for Disease, by Max Wilson and Gunnar Jungner International journal of neonatal screening, 2025.PMID 40700048
- [23]Grosse SD Screening for Neonatal Hyperbilirubinemia-First Do No Harm? JAMA pediatrics, 2019.PMID 31107538
- [24]Bordini BJ Overcoming Diagnostic Errors in Medical Practice The Journal of pediatrics, 2017.PMID 28336147