Paeds · preventive-and-community-paediatrics
Newborn bloodspot screening for inherited metabolic disease and follow-up
Also known as Heel-prick test · Dried blood spot screening · Newborn metabolic screening · Guthrie test · NBS bloodspot · Neonatal bloodspot programme
Fellowship guide to dried bloodspot newborn screening: valid collection, result states, critical positives in well neonates, CH PKU MCADD galactosaemia CAH CF SCID pathways, incomplete cards, family counselling and regional panel differences.
On this page
Study tools
Your progress
Saved on this device.
Practise this topic
Target exams
Red flags
- Critical bloodspot result with no same-day family contact or confirmatory plan
- Well neonate with presumptive positive treated as routine outpatient delay
- Possible classic galactosaemia while milk feeds continue
- Metabolic crisis with incomplete or missing card and prolonged fasting
- Unsatisfactory or not-collected card with no named owner after early discharge
- Salt-losing crisis risk after elevated 17-OHP without electrolyte review pathway
- Abnormal TREC/SCID pathway without infection precautions and immunology referral
Life stages
Care settings
Clinical exam formats
Board mappings
- General and Community Paediatrics
- Neonatal medicine
- Clinical Sciences — metabolic and endocrine foundations
- Current 2026 PREP curriculum — newborn care and preventive paediatrics
- Renewed curriculum for first-year trainees from 2027 — essential general paediatrics
- Renewed curriculum for first-year trainees from 2027 — communication with patients, families, and health professionals
- Renewed curriculum for first-year trainees from 2027 — regional, rural, and remote paediatric care
- Clinical Applications
- Medical Sciences
- Long Cases
- Short Cases
- Patient management
- Communication
- Health promotion and illness prevention
- General Paediatrics: coordinates newborn screening and early intervention pathways
- Foundation of Practice (FOP)
- Theory and Science (TAS)
- Applied Knowledge in Practice (AKP)
- Clinical
- History
- General Pediatrics Content Outline — Domain 1: Preventive Pediatrics/Well-Child Care
- General Pediatrics Content Outline — Domain related to Neonatology
- General Pediatrics Content Outline — Universal Task 2: Epidemiology and Risk Assessment
- General Pediatrics Content Outline — Universal Task 3: Diagnosis
- General Pediatrics Content Outline — Universal Task 4: Management and Treatment
- Patient Care: health promotion and screening
- Systems-Based Practice: coordination of care and transitions
- Interpersonal and Communication Skills: family-centered communication
- Medical Expert
- Health Advocate
- Communicator
- Pediatrics EPAs related to newborn care and preventive health
Overview & Definition
Newborn bloodspot screening is a population programme that tests dried blood from a heel prick to find serious treatable conditions before the baby looks unwell. It sits beside hearing screening, critical congenital heart disease pulse oximetry and the newborn examination. Those other checks do not replace the card. [2] [17]
Screening is not the same as diagnosis. A presumptive positive means the baby needs a defined confirmatory pathway. A clear result lowers risk for the conditions on that panel. It does not prove the child will never develop any metabolic or endocrine disease. Unsatisfactory means the sample failed quality rules. Incomplete means the test was never done, never arrived, or never had an owner after discharge. [1] [14]
Wilson and Jungner principles still frame the programme. There must be an important health problem, a latent stage, a suitable test, an accepted treatment, and a system that can deliver confirmation and care. Modern reviews keep those ideas alive as panels expand and genomic options appear. A laboratory printout without follow-through is not screening. [1] [2]
Closed loop from heel to treatment
- 1
Collect a valid card
Correct timing window, warm heel, filled circles, air dry, accurate identifiers, special-situation notes for preterm, TPN or transfusion.
- 2
Protect transport and analysis
Prompt despatch. Laboratory methods include MS/MS and targeted assays. Second-tier tests may refine some markers.
- 3
Classify the result state
Clear, presumptive positive, borderline, unsatisfactory, incomplete. Each state has a different action and urgency.
- 4
Contact and confirm
Critical positives need same-day family contact. Confirmatory bloods and specialist pathways start without waiting for the baby to look sick.
- 5
Treat and hand over
Start protocolised treatment when indicated. Educate for illness plans. Document community follow-up and residual risk.
References20ShowHide
- [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]Wilcken B Newborn screening. Pathology, 2008.PMID 18203033
- [3]van Trotsenburg P Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology. Thyroid, 2021.PMID 33272083
- [4]Léger J European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. The Journal of clinical endocrinology and metabolism, 2014.PMID 24446653
- [5]van Spronsen FJ Phenylketonuria. Nature reviews. Disease primers, 2021.PMID 34017006
- [6]van Wegberg AMJ The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet journal of rare diseases, 2017.PMID 29025426
- [7]Mason E Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment. Endocrinology, diabetes & metabolism, 2023.PMID 36300606
- [8]Dezateux C Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: evaluating the effects on outcome. European journal of pediatrics, 2003.PMID 14628139
- [9]Succoio M Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment. Biomolecules, 2022.PMID 35883524
- [10]Berry GT Galactosemia: when is it a newborn screening emergency? Molecular genetics and metabolism, 2012.PMID 22483615
- [11]Shenoy A Cystic Fibrosis Newborn Screening. Clinics in perinatology, 2025.PMID 40850711
- [12]Course CW Newborn screening for cystic fibrosis: Is there benefit for everyone? Paediatric respiratory reviews, 2019.PMID 30956155
- [13]Fernández-Lainez C Tandem mass spectrometry newborn screening for inborn errors of intermediary metabolism: abnormal profile interpretation. Current medicinal chemistry, 2012.PMID 22934775
- [14]Dietzen DJ National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary. Clinical chemistry, 2009.PMID 19574465
- [15]van der Spek J TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review. Journal of clinical immunology, 2015.PMID 25893636
- [16]Routes J Newborn Screening for Severe Combined Immunodeficiency. Current allergy and asthma reports, 2018.PMID 29749587
- [17]O'Leary P Newborn bloodspot screening policy framework for Australia. Australasian medical journal, 2015.PMID 26464586
- [18]Heather N Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand. International journal of neonatal screening, 2024.PMID 39051403
- [19]Cavarzere P Primary congenital hypothyroidism: a clinical review. Frontiers in endocrinology, 2025.PMID 40862110
- [20]Grob F Newborn screening for primary congenital hypothyroidism: past, present and future. European thyroid journal, 2025.PMID 40029014