Testing for 5q SMA during pregnancy
Testing for 5q SMA during pregnancy
This page is for anyone who wants to know what testing for 5q SMA in pregnancy may be possible. Choose the drop-down tab that applies to you.
SMA is a rare condition. There are different forms of SMA. The most common and treatable form is called 5q-SMA. NHS-funded testing for SMA is for 5q-SMA.
If:
- You have had a child with 5q SMA
- You know that one or both of you are carriers of 5q SMA
- Either you and / or your partner have 5q SMA
- Someone in one or both of your extended families has 5q SMA, but you do not know if you carry the condition.
Please see: Family Planning for Couples Affected by 5q SMA >
If you are pregnant and not in contact with a Regional Neuromuscular Centre for advice, contact your midwife or G.P. or obstetrician. 5q SMA is rare. They may not have come across it before. Our information sheets listed below may be helpful.
Ask them what to do next and how to ask for an urgent genetic counselling referral. If this is not possible, you can contact your local genetic service directly. There is a list of centres on the Genetic Alliance UK website > You and your partner may be offered carrier testing.
Further information:
Contact your midwife or G.P. or obstetrician to discuss your possible family connection with 5q SMA. This is a rare condition. They may not have come across it before. Our information sheets listed below may be helpful.
They may suggest a genetic counselling referral. If not, you can contact your local genetic service directly to ask for their advice. There is a list of centres on the Genetic Alliance UK website > You and your partner may be offered carrier testing.
Further information:
Contact your midwife or G.P. or obstetrician to discuss your concerns. 5q SMA is a rare condition. They may not have come across it before. Our information sheets listed below may be helpful.
The NHS would not fund any testing for you.
If you are considering paying for private carrier testing for 5q SMA, we recommend discussing this with your GP or other health professional first.
We do not hold lists of private clinics.
If you choose to contact a clinic for private carrier testing during pregnancy it would be wise to check what Medical Laboratory will do this test.
There is a general accreditation for quality and competence for Medical Laboratories. This uses the standard, ISO15189. The accreditation assessment is often done by the UK Accreditation Service (UKAS). They are used by the government to assess medical laboratories that perform testing.
If you choose to contact a clinic for private pregnancy testing, check:
- that the Medical Laboratory doing this test for the clinic is accredited to this standard for this test
- what would happen if your test shows you are a carrier >of 5q SMA. It is important that you are referred for immediate support. This should be from appropriate NHS genetic and clinical services with expertise in rare conditions.
What is 5q SMA > The Genetics of 5q SMA >
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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.
Find out more about how we produce our information >.