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Amniocentesis & Spinal Muscular Atrophy

3 replies

Shawla92 · 15/06/2020 10:20

Good morning everyone

I know there are lot's of threads about women having amniocentesis for Down's, Edward's & Patau's syndrome but I am going for the test next week at 15+3 to test for Spinal Muscular Atrophy as me and my partner are both carriers.

I will be having the test done at St Mary's Hospital in Manchester and was wondering if anyone on here has had the test the done for either the same condition or a similar condition at St Mary's. Who was the consultant who performed the procedure, did it go well? Were there any options to fast track results?

Guess I am just looking for some reassurance about the procedure and if we can decrease the 2/3 week wait...

Thanks in advance for any experiences shared :)

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JSLACEFAMILY · 15/06/2020 10:38

Hi @Shawla92 I'm so sorry that you are going through this experience. I have not gone through this myself but have some close friends that have. They now run a charity supporting all parents with anything to do with SMA. I would def recommend that you get in touch with them as I know they will be able to give you guidance and support. The charity is called The Annabelle Rose Foundation and their website is www.annabellerosefoundation.co.uk/ You can also find them on facebook etc. Xx

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lumpydaisy · 15/06/2020 14:06

@Shawla92 sorry you have to go through this. If it's any consolation, the carrier rate for SMA is surprisingly high, so it could happen to any of us. It's just bad luck unfortunately.

Do you know what test you're having? I used to actually perform these tests in the lab (not at that hospital though). By this I mean my lab would receive blood samples or amnio samples, extract the DNA, and then I would perform the DNA test for SMA. Then I'd analyse the results, and a clinical scientist would write the report. The report would then be sent to the doctor who had requested the test - likely your consultant.

Are you and your partner having blood taken (so is the test to determine exactly what you're carriers of), or are you having an amnio?

That sounds like a really long wait tbh - we used to try to get those tests done within 3 working days! But that was from the point of us receiving the sample in the lab - perhaps they add on some extra days to allow for transfer time etc.

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Shawla92 · 16/06/2020 09:00

@lumpydaisy we have both had our bloods taken to confirm we are carriers. Those results took 10 days but I know that they sent the samples from Manchester to Liverpool so I'm guessing transfer time is in that too.

I am now having the amnio on Monday and just trying to get as much info as possible, not that it will change the outcome but it will make me feel more at ease.