What happens if there is a problem?
For most babies, of course, all tests are deliciously normal. All the conditions being checked for are uncommon.
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 and references
Newborn screening; NHS Choices
Newborn screening; NI Direct Government Services
Your Baby! Tests offered - for babies screened on or after 20th March 2017; NHS Scotland, 2017
I agree that there is very little information about this condition. I was born with it and apparantly spent 2 months in an incubator. I would like more information on possible life long problems as a...Guest
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 make no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions.