In the UK there are certain tests and examinations offered to your baby to screen for some conditions. However, it is not possible to screen your newborn baby for every illness or disease.
Newborn and six- to eight-week baby examinations
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. This is when your baby is 8 weeks old.
These 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 examinations make up the newborn and six- to eight-week baby checks?
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. This could 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.
Newborn hearing screening tests
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. Hearing loss in babies is uncommon, only affecting around one to two babies in every thousand.
What newborn hearing tests might be carried out?
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.
Heel prick test
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.
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 May 2014, screening for four additional rare, but treatable, conditions has been introduced. These are:
- Homocystinuria (HCU)
- Maple syrup urine disease (MSUD)
- Glutaric aciduria type 1 (GA1)
- Isovaleric acidaemia (IVA)
Note: there is 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.
Dr Louise Newson
Dr Louise Newson
Dr Hayley Willacy