Guidance

Newborn blood spot screening: movers in with no available records

Updated 11 May 2021

Applies to England

Guidance

Eligibility for screening

All babies under a year of age (up to but not including their first birthday) are eligible for newborn blood spot (NBS) screening for 9 conditions. These conditions 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 (pyridoxine unresponsive) (HCU)

Babies are only eligible for CF screening up to 8 weeks of age. This is because the screening test is not reliable after this age. PKU, MCADD, MSUD, IVA, GA1 and HCU are inherited metabolic diseases (IMDs).

This guidance applies equally to all babies resident in England, whether born in England, other countries of the UK, or abroad.

‘Movers in’ are babies who have either changed responsible clinical commissioning group (CCG), or have moved in from another UK country or abroad.

Screening results

All babies under a year of age should have documented results (or declines) for all 9 conditions screened for in England. Only results documented in English are accepted (this includes translations).

Babies born outside England may have been screened as part of routine screening in their country of birth. For some babies, NBS screening is inadvertently not carried out or the results are missing.

Offering screening

If a baby under a year of age does not have documented results (or declines) for all 9 conditions, screening should be offered up to (but not including) their first birthday.

Screening should only be offered for the untested conditions.

If any of the untested conditions are IMDs, and the parents accept screening, the screening laboratory will screen the baby for all 6 IMDs. This is regardless of whether the baby has documented results for some of the IMDs.

Screening for SCD, CF and CHT will not be repeated if the baby has documented results for these conditions.

Parents can decline screening individually for SCD, CF and CHT. They can only decline the 6 IMDs as a group. This is due to the laboratory processes for IMD screening.

If parents accept screening

If parents accept screening, the blood spot sample must be taken no later than 14 calendar days after the baby’s first birthday. Samples should not be taken later than 14 calendar days after the baby’s first birthday as they will not be eligible for screening. If the process is to offer and take the sample on the same day, this can only be done before the baby’s first birthday.

If parents accept screening and the blood spot sample is taken, the screening laboratory will perform all processes until screening has been completed for all the untested conditions. This includes processing initial samples taken no later than 14 calendar days after the baby’s first birthday and requesting and processing repeat/further samples if required.

The cut-off at a year of age is largely a pragmatic decision, supported by professional consensus that there are still benefits of screening older babies, but that these reduce with age.

Screening might not be possible for CF. Babies are only eligible for CF screening up to 8 weeks of age. This is because the screening test is not reliable after this age.

Outstanding NBS screening results should be recorded on the child health information system ≤ 21 calendar days of the child health information service (CHIS) being notified of movement in.

Procedures

Seeking results

Only results documented in English should be accepted (this includes translations). All reasonable attempts should be made to find the results but this should not unduly delay screening.

When the results of NBS screening are not immediately available:

• check with the baby’s mother and in the baby’s personal child health record (PCHR)
• check with the previous health visitor and/or CHIS (if they do not have the results they will know the responsible midwifery unit and relevant screening laboratory to contact)
• if the baby was born in England, check the newborn blood spot failsafe solution (NBSFS) to see if the baby has a record and which screening laboratory tested the sample
• results must not be taken directly from the NBSFS – contact the laboratory or CHIS who will have access to the NBSFS

Taking the sample

If the results are still unavailable and the parents accept screening, take the NBS sample and send to the screening laboratory (the NHS number is mandatory on the blood spot card).

All commissioners and relevant service providers should ensure that there are staff trained and responsible for taking blood spot samples in babies that are no longer the responsibility of the midwifery unit.

The laboratory will test the sample and report the results to the CHIS.

Recording results

Record the results in the PCHR and all other relevant records.

If the parents decline screening, record their decision and reason (if stated) in the PCHR and all other relevant records. Notify other healthcare professionals (for example GP) and the CHIS.

The blood spot card should be completed and sent to the laboratory with ‘decline’ written on the card.

Parents should be given a letter that confirms their decision and details of who to contact if they change their mind or would like further information. Refer to template letters for parents and healthcare professionals.

Further information on offering NBS screening and recording the parents’ decision is in the guidelines for newborn blood spot sampling.

If the baby has reached a year of age, record in the PCHR and all other relevant records that NBS results are missing. Record that the parents have been given appropriate advice.

Advice to parents

Provide the following advice to parents, taking individual circumstances into account.

Baby is a year of age

If the baby has reached a year of age, inform the parents that we do not know if their baby has been screened for all 9 conditions and that we do not recommend testing at this age for the reasons above. This will be recorded in the child’s clinical notes and on the child health information system.

Baby is under a year of age

If the baby is under a year of age, offer screening for the untested conditions. Inform parents that not all the tests are as reliable as when carried out at the correct age.

Inform parents that the sample must be taken as soon as possible, and no later than 14 calendar days after the baby’s first birthday.

Reliability of tests in older babies

The test for SCD can be carried out at any age and is equally reliable in older children.

The screening test for CF is unreliable after 8 weeks of age. Older babies with CF may have normal results. The parents should seek medical advice if the child has repeated chest infections or diarrhoea – a test for CF may be arranged. This test is more complicated than the screening test and so it is not carried out on all babies.

The screening test for CHT becomes less reliable in older babies. This means that some older babies with CHT may not be identified. An alternative test can be used for babies who have symptoms suggestive of CHT, for example prolonged jaundice or developmental delay.

The test for PKU can be carried out at any age and is equally reliable in older children.

The reliability of the screening test for MSUD, IVA, GA1 and HCU in older children is less clear.

It is known that the screening test for MCADD becomes less reliable in older babies and some older babies with MCADD might not be identified.

If baby is not screened

If parents decline screening, or the baby has reached a year of age, this should be recorded in the clinical notes and on the CHIS system. Parents should seek medical advice if their baby has signs of chronic health problems such as developmental delay, chronic diarrhoea or repeated lower respiratory tract infections. They should inform staff that their baby has not been screened.

Summary

All babies under a year of age should have documented NBS results (or declines) for all 9 conditions screened for in England. Only results documented in English are accepted (this includes translations).

If a baby under a year of age does not have documented results (or declines) for all 9 conditions, offer screening for the untested conditions.

If parents accept screening, the blood spot sample must be taken no later than 14 calendar days after the baby’s first birthday. If the process is to offer and take the sample on the same day, this can only be done before the baby’s first birthday.

If any of the untested conditions are IMDs, and the parents accept screening, the screening laboratory will screen the baby for all 6 IMDs. This is regardless of whether the baby has documented results for some of the IMDs.

Screening for SCD, CF and CHT will not be repeated if the baby has documented results for these tests.

Parents should be informed that the results may not be as reliable as when taken at the correct age.