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Newborn Screening

Screening newborn babies should fulfil the Wilson criteria. The following modified Wilson criteria were used in the HTA assessment below:1

  • Clinically and biochemically well-defined disorder
  • Known incidence in populations relevant to the UK
  • Disorder associated with significant morbidity or mortality
  • Effective treatment available
  • Period before onset during which intervention improves outcome
  • Ethical, safe, simple and robust screening test
  • Cost-effectiveness of screening
Current UK screening

The routine neonatal examination and subsequent 6 week check

This is used to screen for:

Newborn hearing screening

  • This is offered to all babies in the UK by 4-5 weeks of age.2
  • For babies that have spent more than 48 hours in NICU or SCBU the hearing test should be offered by 44 weeks gestational age.
  • A combination of automated otoacoustic emissions ( AOAE) and automated auditory brainstem response (AABR) is used.
  • This is similar to testing previously only offered to high risk groups.
  • There is also a parental checklist for reference after the testing.

Screening for inborn errors of metabolism

These are also part of routine UK neonatal screening.3They are performed on a heel prick blood sample taken from all neonates by midwife/HV at age 6-14 days.
The gold standard to judge other tests is the PKU test - which on cost-benefit analysis justifies the current national heelprick screening program on its own!

  • Phenylketonuria (PKU):
    • Incidence 1:12 000.4,5
    • Current tests look for a combination of total biopterin and dihydropteridine reductase from neonatal blood spots.
    • The original "Guthrie" test (semi-quantitative and difficult to automate) is being gradually superseded by chromatography, fluorometry or mass spectrometry.
    • Early diagnosis and treatment reduces risk of neurological handicap from 80-90% to 6-8% (population baseline risk 2%).6
  • Congenital hypothyroidism:
    • Incidence approximately 1:3000.7
    • Currently established on same heelprick sample as above.
  • Sickle Cell Disease:
    • Universal laboratory screening offered in trusts covering high prevalence populations since 2005.8
    • Form of screening for haemoglobin variants depends on the prevalence of the condition.
    • All other areas required to offer, as a minimum, laboratory testing for variants (based on an assessment of risk) since 2006.
    • Risk determined by questioning women about their ethnic origin.
  • Cystic Fibrosis (CF):
    • 1 in 2,500 babies born in the UK have CF.9
    • Carrier rate is 1 in 25.
    • Incidence varies around the country.
    • Biochemical screening is being phased in and should be uniform by April 2007. Initial screening detects raised levels of immune reactive trypsinogen (IRT), which is the followed by DNA analysis.10
    • The commonest mutation is in the DF 508 gene in 95% of affected individuals in the UK.
  • Medium-chain acyl CoA dehydrogenase (MCAD) deficiency:
    • Estimated incidence 1:8000-1:15,00011
    • The Department of Health have funded a pilot study in six UK centres screening more than 700,000 babies.3
    • The remaining 7 centres will be funded from April 2009.
Possibilities for future screening programmes

Not currently recommended by UK National Screening Committee, but available in some countries.3The strongest cases can be made for screening for the following, although tandem mass spectrometry needs to be widely available:

  • Glutaric aciduria type 1 (GA1) - estimated incidence 1:40,00012,13
  • Galactosaemia (incidence 1:44,000) although neonatal mortality can be reduced with screening and early detection; long term outcome is still poor14
  • Biliary atresia - population screening using heel prick blood tests not discriminatory enough.

Others include:

  • Biotinidase deficiency:
    • Incidence approximately 1:110,000-160,00015
    • Can be identified via blood spot analysis hence would be straightforward to implement, and dietary supplementation prevents neurological deficit - but UK incidence is current thought to be too low to justify nationwide screening.
  • Congenital adrenal hyperplasia (CAH):
    • Incidence 1:17,00016
    • Caused by 21-hydroxylase deficiency
    • Screening shown to be beneficial in other countries
  • Disorders of organic acid and fatty acid metabolism:
    • Rare and diverse recessively inherited conditions, some of which may be candidates for screening in the future1

The modified Wilson criteria above are not currently met for the following conditions, hence not recommended by the UK National Screening Committee:


Document references
  1. Seymour CA, Thomason MJ, Chalmers RA, et al; Newborn screening for inborn errors of metabolism: a systematic review. Health Technol Assess. 1997;1(11):i-iv, 1-95. [abstract]
  2. NHS Newborn Hearing Screening Programme
  3. UK Newborn Screening Programme Centre; NHS. Last updated July 2006.
  4. Management of PKU (Phenylketonuria), National Society for Phenylketonuria UK (2004)
  5. Phenylketonuria, Online Mendelian Inheritance in Man (OMIM)
  6. Poustie VJ, Rutherford P; Dietary interventions for phenylketonuria. Cochrane Database Syst Rev. 2000;(2):CD001304. [abstract]
  7. OMIM; Hypothyroidism, congenital, non-goitrous. Online Mendelian Inheritance in Man.
  8. UK National Screening Committee information; Sickle Cell & Thalassaemia
  9. OMIM; Cystic Fibrosis. Online Mendelian Inheritance in Man.
  10. NHS. Cystic Fibrosis Screening programme. Last updated September 2007.
  11. MCAD Deficiency, Online Mendelian Inheritance in Man (OMIM)
  12. OMIM; Glutaric Acidemia I. Online Mendelian Inheritance in Man.; Overview of genetic, biochemical and clinical knowledge.
  13. Strauss KA, Puffenberger EG, Robinson DL, et al; Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121(1):38-52. [abstract]
  14. OMIM; Galactosemia. Online Mendelian Inheritance in Man.
  15. OMIM; Biotinidase Deficiency. Online Mendelian Inheritance in Man.
  16. OMIM; Congenital Adrenal Hyperplasia due to 21-Hydroxylase. Online Mendelian Inheritance in Man.
  17. Naylor EW, Guthrie R; Newborn screening for maple syrup urine disease (branched-chain ketoaciduria). Pediatrics. 1978 Feb;61(2):262-6. [abstract]
Acknowledgements EMIS is grateful to Dr Hayley Willacy for writing this article. The final copy has passed scrutiny by the independent Mentor GP reviewing team. ©EMIS 2008.
DocID: 2512
Document Version: 21
DocRef: bgp24834
Last Updated: 29 Apr 2008
Review Date: 29 Apr 2010
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