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  1. #1
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    Default Congenital heart problems

    Hi, im 36 weeks and have had a late diagnosis of a partial atrioventricular septal defect. The cardiologist seemed concerned that this can be associated with chromosomal abnormalities such as downs syndrome. They suggested doing amniocentesis at this late stage even though I have had a nipt done which came back low risk as did the nuchal ultrasound and all anatomy and growth scans have so far been normal apart from baby measuring small.
    Just wondering if anyone else has been in similar situation or had a normal baby with partial avsd? My husband is very against having a baby with chromosomal abnormalities. So confused and dissapointed at the moment being so late into pregnancy 😢

  2. #2
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    Achievements:Topaz Star - 500 postsAmber Star - 2,000 postsAmethyst Star - 5,000 posts
    I’m so sorry you are experiencing this. Have you had a tertiary scan and a fetal echo?

    Our first son had an ASD as well as hypoplastic left ventricle. It was picked up at 20 weeks and we had a clear amniocentesis. Sadly he was never going to survive and was delivered stillborn at 24 weeks.

    In doing the anmio at I would ask yourself what you would do with the results. After a certain gestation termination for medical reasons is not an option, I believe 30 weeks but may be wrong. Your doctors can help with this. So other than some pre warning you won’t really be in a position to do anything. I would take some comfort from the NIPT and nuchel scans.

    I would recommend speaking with the cardiologists and genetic counsellors about what is to come. I know we were given very detailed information about our sons diagnosis and what it would mean if he were to survive.

    Please send me a private message or reply here I’m happy to discuss anything you like. There was a previous member @Tamtam I think who’s daughter had major cardiac issues but I haven’t seen her on the hub for a long time.

  3. #3
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    Thanks for replying, so sorry to hear about your loss at 24 weeks. I can't imagine how that would feel.
    Yes I had my growth scan by a doctor and echo was done by a cardiologist. Although they explained the heart issue they didn't go through consequences of what that means. They were note concerned about sending us to see a genetic councelor who suggested an amnio. After lots of thought and talking to others I think it might be helpful to go through with it, even at this late stage just for peace of mind. I've just started maternity leave and don't want to sit around thinking the worst when it could all be nothing . The hospital we went to said termination is possible for health issues up till birth ,but it goes before a board. i really believe nothing is wrong and the heart issue can be well looked after ,that would be the best outcome, coz I don't want to think about the worst. I have to feel positive seeing as no other scans and nipt results have shown any problems. It will be a long few days .


 

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