Newborn Baby Screening Tests
In the UK there are certain tests and examinations offered to your baby to look for some medical conditions. However, it is not possible to screen your newborn baby for every illness or disease.
What is meant by newborn baby screening tests?
In the UK, there is a "screening programme" for newborn babies to check all is well. This is one of many "screening programmes", and you may well wonder what that phrase means. Screening refers to tests which are offered to everybody to rule out certain common conditions. They are offered to people in the age group where these conditions are most often picked up. The idea is to pick up conditions which can be treated early to avoid them causing problems. Other screening programmes in the UK include the cervical smear test, the breast screening programme and the aortic aneurysm screening programme. See the separate leaflet called Screening Tests in the UK for more information.
In newborns, the programme involves check-ups in the first few weeks of life to rule out certain problems. Specifically, the tests are:
- A physical examination soon after the baby is born (the newborn baby check).
- A physical examination when the baby is 6 weeks old (the six-week check).
- A blood test done by pricking the baby's heel.
- A hearing test.
Is it the same everywhere?
No. Each country chooses which checks should be carried out on all newborn babies. This leaflet refers only to screening in the UK. Even in the four nations of the UK, there are some small differences in the tests. Broadly the system is the same, but the heel prick blood test checks for more conditions in England, Scotland and Wales than it does in Northern Ireland. As things stand - at the moment anyway - programmes are frequently reviewed and revised, and the extra tests in England and Wales were added in 2015 and more recently in Scotland.
When and how?
The physical examination is done soon after your baby is born, usually by a doctor. This is repeated when your baby is 6 weeks old, usually by your GP. Your baby is checked all over. In particular, the doctor will look at your baby's eyes, listen to their heart, and check their hips. If your baby is a boy, the doctor will also check their testicles have landed in the right place. The baby will also be weighed and measured. You can learn more about the physical examinations.
If you have your baby in hospital, the hearing test is often done before you leave after your baby is born. If not, your health visitor will arrange it within the first few weeks. The usual first test takes only a few minutes and involves a soft probe being placed in your baby's ears. The response is then measured. A further test can be done if the result is not clear. Neither test is in any way distressing to your baby, and you get a result straightaway. Learn more about the hearing test for newborn babies.
The blood test is done by a heel prick. This produces a spot of blood - hence its name: the "bloodspot" test. This is usually done five days after your baby is born. Mostly this will be done by a midwife visiting you at home. Read more about the bloodspot test.
Why are the tests done?
The whole point is to pick up certain conditions which, if picked up early, can be remedied to avoid a problem. You can read more about these conditions in the sections linked to the various tests as above. For example, if your baby is found to have a condition where their hip joint is not stable (developmental dysplasia of the hip), the joint can be stabilised by putting them in a harness or plaster cast for a while. Although this is a bit of a pain at the time, it stops them from getting severe wear and tear (arthritis) and pain in their hip joint at a young age.
What happens if there is a problem?
Treatment depends on the problem, but the conditions being screened for are all ones for which there is a treatment if they are picked up. Read more about treatment of some of the possible conditions which might be picked up.
For most babies, of course, all tests are deliciously normal. All the conditions being checked for are uncommon.
When will my new baby get a physical check-up?
Your baby will have a head to toe examination by a healthcare professional (usually a doctor) within the first three days of birth. A very similar examination is then undertaken when your baby is around 6 weeks old, usually by your GP. Many doctors will perform this examination at the same time as your baby's first vaccinations. These vaccinations start when your baby is 8 weeks old.
The newborn and six-week examinations are done to check that your baby is healthy and to look for any possible problems that may need further tests or treatment in the future.
What will be checked?
The following checks will usually be carried out:
- Looking into your baby's eyes with a light. This is to look for cataracts and retinoblastoma. This is a rare type of eye cancer.
- Listening to your baby's heart. Your baby's heart is listened to carefully to ensure there are no murmurs present. Murmurs are extra sounds heard alongside the normal heart sounds. This is common in babies, but it can in some cases be a sign of a problem with the structure of the heart. Your baby's pulses in his/her groins are also felt. This gives an indication of your baby's circulation.
- Listening to your baby's lungs. This is done to ensure your baby's lungs sound healthy and clear.
- Examination your baby's tummy (abdomen). This is done to ensure that your baby does not have an enlarged liver or spleen or have any abnormal swellings in their tummy.
- Examination of your baby's hips. This is a test to exclude developmental dysplasia of the hip, which is problem with the way that the hip joint develops.
- Examination of your baby's scrotum (in boys). All boys have their scrotum examined to determine if the testicles (testes) are both in the scrotum. Some babies may have undescended testes at birth and will need to be re-examined when they are a few months older to ensure it does not persist and need treatment.
- Examination of your baby's back. Your doctor may feel your baby's back to see how straight it is.
- Measurement of your baby's head and weight. The measurement around your baby's head and your baby's weight will be measured. This is done if they have not been done recently by another healthcare professional. These measurements are plotted on graphs in your baby's red book and give doctors an indication of your baby's growth.
In the six- to eight-week check you will also be asked general questions about how your baby is developing and also how your baby is feeding. This appointment also gives you an opportunity to ask any questions or voice any concerns you may have about your baby.
When will my baby's hearing be checked?
Your baby will be offered a hearing test in the first few weeks. This is a very quick test and does not cause the baby any pain. This is usually done before you leave hospital, but can also be done at home or in a special clinic if not. It takes only a few minutes and you will get the result straight afterwards.
Hearing loss in babies is uncommon, only affecting around one to two babies in every thousand.
How is hearing checked?
The test most commonly undertaken is the Automated Otoacoustic Emission (AOAE) screening test. It is very commonly done in the first day or so of birth. The test involves a technician placing a very soft probe into your baby's ears which is connected to a machine. This shows how well your baby is hearing.
If this test is not normal then this does not necessarily mean that your baby cannot hear. Your baby will be offered a more specialised test, which is the Automated Auditory Brainstem Response (AABR) test at a later date. This test involves placing three small sensors, together with headphones, on to your baby's head. The headphones are placed over your baby's ears. The machine measures how well the sounds travel along your baby's hearing nerve pathways from their ear to their brainstem.
If your baby spent more than 48 hours in a neonatal intensive care unit (NICU) or special care baby unit (SCBU) then they may be offered the two different hearing tests.
How is the blood test done?
Mothers of all newborn babies are offered testing for certain conditions by testing a blood spot taken from the baby's heel. This is usually done by your midwife at home when your baby is 5 days old. A very small sample of blood is collected by pricking your baby's heel, using a special device and squeezing out a few drops of blood on to a card. Although this test may be uncomfortable, it is over very quickly. The sample is sent away for testing, and you will get the results by letter or phone in due course.
Which conditions might be tested for by the heel prick test?
Conditions which the heel prick test can screen for are as follows:
- Sickle cell disease - this is an inherited blood disorder. Treatment started early in life, can prevent complications.
- Cystic fibrosis - this is an inherited disorder that affects the internal organs, especially the lungs and digestive system. The heel prick test detects a chemical called immunoreactive trypsinogen. This is high in babies with cystic fibrosis. If it is high then a sweat test and genetic test are usually done to confirm the diagnosis. The earlier the diagnosis is made, the sooner treatment can begin which improves the outlook (prognosis).
- Phenylketonuria - this is a very rare condition in which the body is unable to break down a substance called phenylalanine, which builds up in the blood and brain. It is really important for this to be picked up early. Early treatment significantly reduces the risk of brain problems and complications in the future.
- Congenital hypothyroidism - this is a rare condition which can lead to impaired growth and mental development. However, treated babies can develop normally so it is important for it to be diagnosed early. If your baby was born prematurely (under 32 weeks) then your baby will need a repeat test when they are 28 days old.
- Medium-chain acyl-Co-A dehydrogenase deficiency - this is a very rare, but potentially life-threatening, inherited disorder, where fat cannot be broken down by the body as well as usual. Babies with this condition develop normally, but recognising the condition early enables parents to make sure their babies and children with this condition eat regularly. When people with this condition go for a long period of time without eating there is a build-up of medium-chain fats inside the body, which can have a poisonous effect. Also, a sudden and severe drop in blood sugar levels can occur.
- Since 2015, screening for four additional rare, but treatable, conditions has been introduced in England and Wales. These are:
- Homocystinuria (HCU)
- Maple syrup urine disease (MSUD)
- Glutaric aciduria type 1 (GA1)
- Isovaleric acidaemia (IVA)
Note: there is a slight variation of the tests performed throughout the UK. Your doctor, midwife or health visitor will be able to discuss these with you in more detail.
If you do not want your baby to have some or all of these conditions tested for in the heel prick test then you should inform your GP or midwife.
What conditions might be picked up?
These are described briefly in the sections under the individual tests. Many also have links to leaflets about the conditions. None of the conditions is common, but each has a better outcome if treated early.
What would be the treatment?
This will obviously be different depending on the condition picked up. Some examples are briefly explained below
Conditions picked up through physical examination
- Cataracts: this is a clouding of the lens of the eye. Cataracts in newborn babies (congenital cataracts) have a number of causes. In some cases an operation is needed to replace the cloudy lens with an artificial lens. Your baby would be referred to an eye specialist (ophthalmologist) for advice.
- Heart murmurs: these are very common and most are nothing to worry about. However, if your baby is found to have a murmur, they will be referred to a heart specialist for investigation with a scan of the heart (echocardiogram). In some cases there may be a problem with the structure of the heart, and an operation may be needed to fix it.
- Clicky hips: if it is thought that your child might have hips which are not stable (developmental dysplasia), he or she would be referred for an ultrasound scan in the first place. If a problem is confirmed, they will then be referred to a specialist to advise about treatment. Your child may be fitted with a harness to hold the hip in place. In some cases, a plaster cast may be needed. The idea is to hold the joint firmly in place until it becomes stable. This prevents your child from getting pain in the joint from arthritis at an early age.
- Undescended testes. In the womb, testicles (testes) work their way down from the lower part of the tummy into the scrotum. By the time of birth, usually both testicles are in the scrotum. If testicles remain undescended after your baby is a year old, they may be more likely to have problems with fertility later in life, and more likely to develop testicular cancer. An operation to bring the testicles down to the scrotum and fix them there can prevent these complications happening.
If the hearing test does not have a clearly normal result, your baby will be referred to a hearing specialist. This does not necessarily mean your baby has a hearing problem. Other things can interfere with the test result. If your baby does have a hearing problem, there are different levels and different types of hearing loss. A hearing aid may be one option for treatment. Knowing there is a problem means you can be advised on how to best help your baby develop and communicate.
Conditions picked up by the bloodspot test
- Cystic fibrosis: there is not a cure for cystic fibrosis, but if it is picked up earlier the outlook is better as some damage to the baby's organs can be prevented. Treatments include medicines, early antibiotics for infections, physiotherapy and special diets.
- Hypothyroidism: babies with this condition do not produce enough of the thyroxine hormone and this can damage their development. If picked up early they can be treated with a medicine form of thyroxine hormone so that they develop normally.
- Sickle cell disease: this cannot be cured but it can be managed with treatments, such as medicines including antibiotics, vaccinations, blood transfusions, and painkillers for sickle cell crises.
- Other rare conditions picked up by the bloodspot test can be managed by medicines, special diets or both. Again, early treatment prevents early damage to the baby's brain or development.
Further reading & references
- Newborn screening; NHS Choices
- Newborn screening; NI Direct Government Services
- Newborn Bloodspot Screening Wales
- Your Baby! Tests offered - for babies screened on or after 20th March 2017; NHS Scotland, 2017
- Population Screening Programmes (England)
Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. Patient Platform Limited has used all reasonable care in compiling the information but makes no warranty as to its accuracy. Consult a doctor or other healthcare professional for diagnosis and treatment of medical conditions. For details see our conditions.
Dr Mary Harding
Dr Louise Newson