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    Default Possible abnormalities, needing advice

    Hi there, at my 20 week scan they found that the baby has short femur and humur bones which is a soft marker For downs syndrome. There is also a single umbilical artery and some bright spots on liver. They said it could all mean nothing or it could be linked to a chromosomal abnormality and the only way to know for sure is to do the amnio but I’m really terrified of the risk. I know it’s low but I just can’t help but think what if I’m that unlucky person that miscarries a healthy baby? to make things more complicated, my initial nipt showed high risk for trisomy 13 and trisomy 21 however this was an initial twin pregnancy which resulted in one dying at about 6.5 weeks so they said those abnormalities are probably associated with the demised twin. I repeated the nipt 3 weeks later and it was low risk for everything. Any advice would be greatly appreciated as I’m filled with anxiety over what to do!! I mean should I just trust the nipt is correct?

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    Quote Originally Posted by AX2018 View Post
    Hi there, at my 20 week scan they found that the baby has short femur and humur bones which is a soft marker For downs syndrome. There is also a single umbilical artery and some bright spots on liver. They said it could all mean nothing or it could be linked to a chromosomal abnormality and the only way to know for sure is to do the amnio but I’m really terrified of the risk. I know it’s low but I just can’t help but think what if I’m that unlucky person that miscarries a healthy baby? to make things more complicated, my initial nipt showed high risk for trisomy 13 and trisomy 21 however this was an initial twin pregnancy which resulted in one dying at about 6.5 weeks so they said those abnormalities are probably associated with the demised twin. I repeated the nipt 3 weeks later and it was low risk for everything. Any advice would be greatly appreciated as I’m filled with anxiety over what to do!! I mean should I just trust the nipt is correct?
    I had an amnio at 18 weeks to follow up on NIPT. It was stressful, but I was worried about what the NIPT showed and I wanted clarity.
    In my situation, the results of the amnio could have meant a decision about continuing the pregnancy or not, so I went ahead with it.
    In the end, I'm glad I did the amnio. I'm not one to leave things alone, so I would have been very stressed with the unknown if I hadn't done it.
    I think you need to have a think about what the results might mean, and also if the results would mean a different treatment course during your pregnancy (as in, would they possibly monitor you closer depending on the result). Weigh that up against the concerns about the amnio, it may help you decide.
    Hugs, it's a hard place to be in, especially at this time of year

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    Thank you for your response and sound advice. In your case did the amnio confirm what the nipt showed? Did you go on to have a healthy baby?

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    Quote Originally Posted by AX2018 View Post
    Thank you for your response and sound advice. In your case did the amnio confirm what the nipt showed? Did you go on to have a healthy baby?
    It was a yes to both. Amnio confirmed the NIPT results, and bubba was born healthy. In our case, it's very much a spectrum and so far, so good and there are no noticeable affects.

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    In this situation I would be inclined to follow the results of the nipt, try to rest easy and have faith it would be ok, and perhaps have a follow up scan later in the pregnancy. As the ultrasound technician said "it could be nothing" and according to your nipt it probably is (not down's). U/s scans do cause unnecessary stress all the time. All the best I hope it turns out perfectly well for your babe.

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    Quote Originally Posted by AX2018 View Post
    Hi there, at my 20 week scan they found that the baby has short femur and humur bones which is a soft marker For downs syndrome. There is also a single umbilical artery and some bright spots on liver. They said it could all mean nothing or it could be linked to a chromosomal abnormality and the only way to know for sure is to do the amnio but I’m really terrified of the risk. I know it’s low but I just can’t help but think what if I’m that unlucky person that miscarries a healthy baby? to make things more complicated, my initial nipt showed high risk for trisomy 13 and trisomy 21 however this was an initial twin pregnancy which resulted in one dying at about 6.5 weeks so they said those abnormalities are probably associated with the demised twin. I repeated the nipt 3 weeks later and it was low risk for everything. Any advice would be greatly appreciated as I’m filled with anxiety over what to do!! I mean should I just trust the nipt is correct?
    Hi @AX2018, I'm sorry you're in this stressful situation and I really hope everything will turn out well, I know how hard it is. I guess the answer to your question depends on how much certainty you need, what does the answer mean for you. I also just wanted to mention that if you go ahead with the amnio, you have the right to ask how many the doctor has performed, and what his/her personal risk stats are. It will vary between doctors and/or between hospitals.

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    I’m so sorry you’re going through this stressful situation.

    My SIL also had a bad 20 week scan. There was the appearance of severe facial deformities which could indicate significant genetic issues. NIPT had been clear.

    They decided to get the amnio because the issues they were concerned about would have impacted whether they would continue with the pregnancy and viability after birth. Awful decisions to make.

    When they got the results of the testing everything was clear. BUT, they were also told that the testing isn’t all that conclusive. Basically, if the testing showed a genetic issue that was correct. But an absence of an abnormal result didn’t mean there was no genetic issues, just that none were identified. They were told there was still a 50/50 chance of there being genetic abnormalities. They couldn’t really rule out genetic issues till around school age! Obviously the older the baby gets, the more significant ones can be ruled out. But still. They said they wished they knew this before going ahead with the amnio.

    In the end, the genetic testing was clear. But the baby was still born with a cleft palate which can be an indicator of other genetic syndromes. So they underwent testing AGAIN when she was born which came back all clear thankfully, but they were still told there was a 50/50 chance of there being a genetic syndrome anyway.

    All this is not to scare you. However, I strongly recommend you pin the doctor down on how conclusive the results of the genetic testing will be, so this can guide your decision making.

    Best of luck.


 

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