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Duodenal Atresia - 35 weeks - Down Syndrome??

Hello, I'm brand new and came here because we just learned that our little boy likely has duodenal atresia.  I went in for a 32 week ultrasound because he had measured large at our 20 week and they wanted to check his growth.  At the 20 week everything looked great.  At the 32 week we were told that there appeared to be an abdominal cyst and were sent to a high-risk ob for follow-up.  He confirmed the cyst and said that it looked like a "double-bubble" which is duodenal atresia, but that it could also be a mesenteric cyst or a duplication cyst.  We then went back to my original ob the following week and she explained that most signs pointed to the duodenal atresia.  She warned me that when I started looking into it I would find a high correlation to Down Syndrome, but reassured me that there were absolutely no other markers and all my screening tests had come back negative.  In addition, she said the baby was measuring big and babies with syndromes typically always measure small.  She asked me if the high-risk ob had said anything about getting an amnio and I said no.  She told me that meant he didn't suspect Down Syndrome at all and was a good sign.

Despite her positive outlook that our baby doesn't have Down Syndrome, everything I have read shows that the correlation is extremely high and Duodenal Atresia is a very significant marker.  I can't stop worrying about it.  Knowing that our baby will need surgery as a newborn is difficult enough and now having the added anxiety that there is a 1 in 3 chance he will have Down Syndrome as well is just too much.  I felt so confident after my screening results came back 1:10,000, but there was only a 1:10,000 chance for duodenal atresia and somehow that happened??

I work with students with special needs so I am very competent and knowledgeable about this but I just never in a million years thought I would personally be going through this.  It's so different being on the other side.  I have read a few forums on here regarding this topic but they were pretty old and just wondering if anyone has been through this and can share a similar story with me??

Kel516

9 Replies

  • melindastone13
    Babies with Down's syndrome have extra genetic material in their cells. They usually have an extra chromosome in each cell, and this can affect all parts of the body. Read more here: motherhow.com/down-syndrome-in-baby-causes-symptoms-diagnosis-treatment
  • lmdazzo

    In reply to Kel516:

    Thank you so much. I guess it presented itself as a "double bubble" but then turned out to be a cyst on the spleen.

  • Kel516

    In reply to NathansMom13:

    I was 29 years old, however our "double bubble" was a mis-diagnosis and our son was born with a cyst in his spleen.

  • lmdazzo

    Could I be so bold as to ask you how old you were when you were diagnosed with the "double bubble"? Thank you

  • Kel516

    In reply to NathansMom13:

    Hi, I am the original poster from this thread.  I am not sure what the Harmony test is.  We completed blood work paired with ultrasound markers to get our results of 1:10,000 originally.  After our diagnosis of duodenal atresia it changed to 1 in 3 although our ob reassured us it was less than 1 in 3.… our son was not born with DS and also was not born with duodenal atresia, which was misdiagnosed in utero.  He was born with a splenic cyst (which LOOKED like a duodenal atresia on the ultrasounds).  The cyst resolved itself by the time he was 9 months old.  He's now 14 months and perfectly healthy :)

  • mustangn

    In reply to NathansMom13:

    I am curious if any of you had a Harmony or similar test that came back at 1/10,000 chance of DS plus a duodenal atresia and what was your outcome. Yes to DS or no to DS?

  • NathansMom13

    My son was in the NICU for 20 weeks total but he recovered within a week or so from his duodenal atresia surgery. They actually didn't see his right away so his surgery was about a month after he was born. He was born full term and went into a different surgery the day after he was born. I would think that as long as your son is doing well they will do surgery quickly after he is delivered.

    Have you talked with your OB about him going to the NICU? I'm assuming he will have to go and if he does you might be able to go visit before you deliver so that you will be a little more comfortable once he is born.

    Also, my best advice is to stop looking on the Internet. I know it's hard to do but is will cause more stress than anything else. Anyone can write anything on the Internet so what you read may not always be accurate (I'm sure you know that already) but as a mom looking for information you are going to be more trusting of everything you read. All the negative info you read is just going to send you into a panic these last few weeks of pregnancy when you really just need to try to relax as much as possible.

    Also, I'm not sure if you are planning on *** feeding. If you are you should ask for a pump as soon as possible. Your son will not be able to nurse when he is born. The duodenal atresia will prevent him from being able to digest food and the medical staff won't let him. The sooner to giving birth you start pumping the better. You can store what you get with the date and then new he is able to start eating you will learn to nurse him and be able to give him the pumped milk you produced in the beginning. If you are planning to formula feed, just disregard this whole paragraph!

    Please ask me any questions you have. I remember looking for any "veteran" NICU parents to help guide me through those first few days. Good luck!

    Laura

  • Kel516

    In reply to NathansMom13:

    Thanks so much for your response Laura.  How long was your son in the NICU after surgery?  Did they do the surgery immediately after he was born?  I am already 35 1/2 weeks pregnant and read that it takes 2 weeks to get results back so it seemed kind of useless to get an amnio now when we are so close to his due date.  It would put me at ease but my doctor never even gave me the option and my next appt isn't for another week.  I felt good about it after talking to my doctor but days later and after looking on the internet I've worked myself up again :/  

  • NathansMom13

    Hi and welcome to Share. I am so sorry that you are just now facing health problems with your son. My son as born with duodenal atresia and does not have Down syndrome. His duodenal atresia was corrected with a quick and easy surgery that he recovered quickly from. Pinkos it's easier said than done, but try not to google it and trust your doctors. If you're very nervous and need to know you could request an amnio. It only takes a few days to get the results back and it might put you at ease for the remainder of your pregnancy. I had an amnio when I was 32 or 33 weeks pregnant with my first son. Good luck and I hope you will keep us updated.

    Laura

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