Screening Tests for Infants

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Not everyone in this age group may need screening for every condition listed here. Click on the links above to read more about each condition and to determine if screening may be appropriate for you or your family member. You should discuss screening options with your health care practitioner.


In medicine, screening is defined as testing for disease when no signs or symptoms are present. All newborn babies in the UK are now screened during the first week of life for five inherited disorders: Phenylketonuria (PKU), Congenital Hypothyroidism (CHT), Medium-chain Acyl CoA Dehydrogenase Deficiency (MCADD), Cystic Fibrosis (CF) and the Haemoglobinopathies including Sickle Cell Disease (SCD). In the UK, there is also a pilot study underway to determine whether babies would benefit from being screened for five further diseases not currently screened for: maple syrup urine disease, homocystinuria (pyridoxine unresponsive), isovaleric acidaemia, glutaric aciduria type 1 and long-chain hydroxyl acyl-CoA dehydrogenase deficiency. The pilot study will run for 12 months from 16th July 2012 to 19th July 2013.

Although targeted screening of older infants may be important for the early detection, diagnosis, and treatment of certain conditions that may not have been discovered in the newborn period, there is currently insufficient evidence to support population screening for any of these conditions. However, for those infants with known risk factors, testing may be appropriate and include conditions such as iron deficiency, lead poisoning, Tuberculosis (TB) and HIV.

A physical screening programme is performed by physical examination, usually prior to 18 months of age, to check for normal growth and development.

Immunisation against a variety of diseases is also offered to infants. These diseases include diphtheria, tetanus, pertussis (whooping cough) – (DTP), Haemophilus influenzae type b (HiB), measles, mumps, rubella (German measles) - (MMR), polio and Group C meningococcus. Hepatitis B vaccine is offered to all babies born to hepatitis B positive mothers. Some of these are series of injections that are started before the age of one year
(See the NHS Immunisation schedule).

Royal College of Paediatrics and Child Health British Paediatric Surveillance Unit report
Immunisation Resources Website
Expanded newborn screening study