Newborn Blood Spot Screening Programme

National Services Division has an ongoing role in the national multidisciplinary groups which monitor and evaluate the newborn blood spot screening programme in Scotland.

Newborn blood spot screening identifies babies who may have rare but serious conditions. Most babies screened will not have any of the conditions but, for the small number that do, the benefits of screening are enormous. Early treatment can improve health and prevent severe disability or even death. Testing is currently offered for all newborn babies, usually around five days of age. This is done by a midwife pricking the baby’s heel to obtain a few small drops of blood. Most test results will show that there are no health problems. Diagnostic testing will be arranged if the blood spot test produces a result which indicates further investigation.

The programme includes screening for Phenylketonuria (PKU); Congenital Hypothyroidism (CHT); and Cystic Fibrosis (CF), Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) and Sickle Cell Disorder (SCD).

Phenylketonuria (PKU) is a rare, inherited disorder that affects around 1 in every 8,000 babies born in Scotland. It means that the baby can’t digest phenylalanine. Phenylalanine is a natural part of the protein within our body and is found in most of our foods.

Congenital Hypothyroidism (CHT) is a rare condition that affects approximately 1 in every 3,500 babies born in Scotland. ‘Congenital’ means that a baby is born with the condition. ‘Hypothyroidism’ means that the baby won’t produce enough of the hormone thyroxine, which is needed for healthy mental and physical development.

Cystic Fibrosis (CF) affects 1 in every 2,500 babies born in Scotland. It occurs when a
baby inherits an altered form of the CF gene from each of its parents, which together cause CF. Both parents are healthy carriers of the altered gene and are unaffected by the condition themselves. CF affects the lungs and the pancreas the most, causing chest infections and problems with digesting food. One in 25 people in Scotland is a CF gene carrier. Being a carrier has no effect on the baby's health, however knowing that you baby is a carrier is valuable for when they grow up and have children of their own

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) affects approximately 1 in 10,000 babies born in Scotland. Babies with this inherited metabolic condition have problems breaking down certain fats in order to make energy for their body. This is not a problem when a baby is well and feeding normally but it can lead to serious illness and in some cases could be fatal where a baby has an infection or goes for a long time without food.

Sickle Cell Disorder (SCD) is an inherited condition affecting 1 in 2,500 babies born in the UK. It is a condition that affects the quality of the cells which carry oxygen in the blood. The blood cells of someone with SCD change from a round shape to a ‘sickle’ shape, and get stuck in the small blood vessels. This can cause pain and damage to the baby’s body, sometimes leading to serious infection and can be fatal. Once detected, treatment includes antibiotics and immunisations to help prevent serious illness. Screening will also identify carriers of SCD.

The Scottish Newborn Screening Laboratory

NSD commission the Scottish Newborn Screening Laboratory (SNSL) service for testing blood samples of newborn babies. The SNSL is housed in the Biochemical Genetics Department in the Institute of Medical Genetics at Yorkhill, Glasgow. It is the sole newborn screening laboratory in Scotland. The remit of the laboratory is:

To screen blood samples of all babies born in Scotland (currently around 60,000 per annum).
To ensure the reporting of all results to the proper authorities and the prompt referral of all positive cases for treatment
To provide data on the incidence of conditions as required
To review new technology with a view to the incorporation of new tests/methods into the screening programme

The laboratory testing is highly automated with immunoassay analysers, a bloodspot punching machine and a tandem mass spectrometer all interfaced to a state of the art Laboratory Information Management System (LIMS).

The most recent annual report for laboratory service is available below:

Scottish Newborn Bloodspot Screening Laboratory Annual Report 2009/10 [17 pages, 172Kb]

Patient Information Leaflets

NSD work in partnership with NHS Health Scotland to produce information on tests for newborn babies. This information is available from the Health Scotland website.

Developments to the Pregnancy and Newborn Screening Programmes

The extension of the newborn bloodspot screening programme to include screening for Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD) and Sickle Cell Disorder is one of a number of developments to the Pregnancy and Newborn Screening Programmes as outlined in:

Chief Executive’s Letter (CEL) 31 2008, issued July 2008 [7 pages, 5.05Mb]

An update on the implementation progress in relation to CEL 31 (2008) was issued by the Chief Medical Officer in September 2010 and can be found at:

Chief Medical Officer Letter, issued September 2010 [4 pages, 50Kb]

NHS Quality Improvement Scotland

NHS Quality Improvement Scotland, in collaboration with the services and NSD, have developed quality standards relating to the newborn bloodspot screening programme; these are available for download from the NHS Quality Improvement Scotland website.

Useful links

The useful links provide further information to members of the public and health professionals.

National Services Division contacts:

To contact members of NSD staff, please visit our staff contacts page.

Catriona Johnson, Programme Manager, Newborn Blood Spot Screening
Louise Murray, Assistant Programme Manager, Newborn Blood Spot Screening
Hannah Cornish, Programme Support Officer, Newborn Blood Spot Screening