GovWire

Public information about NBS screening is available on NHS.UK.

The NHS recommends NBS screening because it can improve health and prevent severe disability or even death. However, screening is always a choice and parents can decline it for their baby if they wish.

NHS England produces information about patient confidentiality in population screening programmes.

It is committed to reducing inequalities and variation in participation to help make sure everyone has fair and equal access to screening services.

Target population

All babies up to but not including their first birthday are eligible for NBS screening for the 9 conditions listed below. This excludes testing for one of the conditions, cystic fibrosis (CF), which is unreliable after 8 weeks of age.

Babies who are new to the country or are yet to have a blood spot test are eligible for testing up to a year old.

Conditions screened for

The NBS screening programme enables early identification, referral and treatment of babies with 9 rare but serious conditions. These are:

• sickle cell disease (SCD)
• cystic fibrosis (CF)
• congenital hypothyroidism (CHT)
• phenylketonuria (PKU)
• medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
• maple syrup urine disease (MSUD)
• isovaleric acidaemia (IVA)
• glutaric aciduria type 1 (GA1)
• homocystinuria (HCU)

The last 6 conditions are inherited metabolic diseases (IMDs).

Health professionals should ask parents if there is a family history of the 9 NBS conditions during pregnancy. If there is, then the health team should create a care plan which could involve an additional early blood spot sample.

It is the health professionals responsibility to explain and offer parents screening for their baby. The health professional should give the Screening tests for you and your baby leaflet to parents. The leaflet is available in 13 languages and there are easy guides which explain the screening tests in more straightforward language, with pictures.

Parents are asked for verbal consent for NBS screening. They can decline for SCD, CF and CHT individually but they can only decline the 6 IMDs as a group.

Screening tests

A health professional will usually take a blood spot sample on day 5 (day of birth is day 0) from a childs heel and send the sample for testing.

There are guidelines which health professionals need to follow to take a good quality sample.

Samples should be sent to the screening laboratory for analysis the same day they are taken. Parents receive the results within 6 weeks.

Using the NBS fail safe solution (an IT system which identifies babies born in England who have missed screening) helps prevent mistakes being made, for example, babies being missed from screening, NBS samples not reaching screening laboratories or samples getting delayed in transit.

The code of practice explains the retention, storage and potential uses of residual NBS samples. See the NBS programme handbook for information about ordering blood spot cards.

Evidence base

NBS screening is one of 11 NHS national population screening programmes available in England.

The UK National Screening Committee (UK NSC) makes 