Newborn Bloodspot screening is recommended and can save your baby’s life.
Early detection and treatment can prevent serious complications and long term health problems for your baby.
If you, your baby’s father or a family member has any of the conditions, it is important to tell your health professional straight away.
If you decline screening and later change your mind, screening can be undertaken up to one year of age, except cystic fibrosis which needs to be done by eight weeks of age.
The test is usually done when your baby is five days old to find out if your baby has any of none rare but serious health conditions. The health professional will prick your baby’s heel and obtain some spots of blood on a special card. Sometimes a second sample is needed to complete the screening test. The test may be momentarily uncomfortable and your baby may cry, but the test will not harm your baby. You can soothe your baby by feeding and cuddling him/her during the test.
What conditions are screened for?
Sickle cell disorder
A serious inherited blood disorder that affects the haemoglobin, a part of the blood that carries oxygen around the body. It affects about one in 20,000 babies born in the U.K. If your baby has sickle cell disorder or thalassaemia the information is shared with the National Congenital Abnormality service (NCARDRS). This helps us improve screening and prevent or treat the condition.
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An inherited condition affecting the digestion and the lungs leading to poor growth and frequent serious chest infections. This condition affects one in 2,500 babies born in the UK Treatment is by diet and physiotherapy.
About one in 3,000 babies born in the UK has congenital hypothyroidism where there is not enough of the hormone thyroxine being produced. This leads to permanent physical problems and learning disabilities.
Inherited metabolic diseases
Six conditions are tested for:
- Phenylketonuria (PKU)
- medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
- maple syrup urine disease (MSUD)
- isovaleric acidaemia (IVA)
- glutaric aciduria type 1 (GA 1)
- homocystinuria (pyroxidine unresponsive) (HDU)
Babies with these inherited conditions cannot process certain substances within their food. The conditions are life threatening and without treatment they can become suddenly very ill.
PKU and MCAAD affect about one in 10,000 babies born in the UK. The other conditions are rarer affecting one in 100,000 to one in 150,000 babies.
Most babies will have normal results, meaning that it is unlikely that the baby has any of the conditions. You will normally receive the results in the post by the time your baby is six to eight weeks old. You should file the results letter in your baby’s red book. If you do not receive your results by the time your baby is eight weeks old you should discuss this with the health visitor.
If there are concerns about any of the tests performed, a health professional will discuss this with you and a referral to a specialist further information, investigation and management.
The bloodspot card may stored for at least five years and may be used for:
- Checking results
- Additional tests as recommended by a Doctor
- Improving the screening programme
- Research to improve the health of babies and their families in the UK
Any research undertaken will not identify your baby and unless the researchers want to invite you to take part in research linked to this screening programme you will not be contacted. If you do not wish to take part in any research, please inform your midwife at the time of screening. The use of bloodspots of governed by a code of practice.