Hearing your baby’s newborn bloodspot test shows ‘suspected SMA’
Hearing your baby’s newborn bloodspot test shows ‘suspected SMA’
This page is for any parent who has had a phone call from a specialist clinical team. The call has been to say that your baby’s newborn blood spot test result shows ‘SMA suspected’.
You will have been given an urgent appointment to see a consultant specialising in spinal muscular atrophy (SMA). If possible, this will be for the day after the call. You will have been told that your baby’s bloodspot test shows altered SMN1 genes. This means your baby may have spinal muscular atrophy.
Parents describe feelings of shock and disbelief when hearing their baby may have a rare condition. They often think there must have been a mistake as their baby seems so well. They can’t see any sign that anything is wrong.
You may only vaguely remember your baby having a test for SMA. Life has been such a whirl since your baby was born.
Your baby’s test result may have been because:
You live in an area that is part of the In Service Evaluation (ISE) for SMA.
This study started in Scotland on 23rd March 2026. There are plans underway to offer newborn screening for SMA (NBS for SMA) in some parts of England.
A baby’s test is usually done at home by a community midwife or health visitor when a baby is 5 days old. But it may have been done while you were in hospital or at another planned appointment.
The test is for 10 rare conditions. One of these is SMA.
There is no cure for SMA but there are effective drug treatments. If given before symptoms start, the drugs can stop them developing.
Early treatment can help babies with SMA have the best chance of a healthier future.
When you had the phone call, your baby’s bloodspot test showed they have altered SMN1 genes. Further testing is needed to confirm whether your baby has SMA. Your specialist should have more information when you see them.
When you see the specialist, they will explain all the test results to you and examine your baby. They should then be able to tell you:
- The Type of SMA they suspect your baby might have or might develop
- What drug treatment is available
- If your baby has drug treatment:
- How they would expect your baby to develop
- What other care and support they would expect them to need
- How they will monitor your baby’s progress
- Where you can go for support and more information.
- If your baby has no drug treatment:
- How they would expect your baby to develop
- What other care and support they would expect them to need
- How they will monitor your baby’s progress
- Where you can go for support and more information.
To check their diagnosis, the specialist will take another blood sample from your baby. This will be tested as quickly as possible. In most cases no drug treatment will be started unless this result confirms your baby has SMA.
Your appointment will be at the nearest possible location available. In some cases, however, this may mean travelling some distance.
During the appointment the specialist will talk to you specifically about your baby and their diagnosis.
If you want to look for further general information online, we suggest you go to the NHS website > . They signpost to our website as a trusted source of up-to-date information. Other websites may not provide the most up-to-date information about SMA screening and treatment.
You can also phone on 01789 267520 and ask to speak to a member of the Support Team.
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Version 1
Author: SMA UK Information Production Team
Published: March 2026
Next full review due: March 2029
Links last checked: March 2026
This page, and its links, provide information. This is meant to support, not replace, clinical and professional care.
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