Heart Defects, Kidney Problems, Club foot, and SUA

kmcorter · March 2016

Hello Everyone,

It's been a long time since I've posted on The Bump and I've never posted here but I'm so lost at the moment that I'm not quite sure where else to turn.

I am 22 weeks pregnant with baby #2 (I have a 14 month old little girl - no complications.) At my 20 week ultrasound, they found a Single Umbilical Artery and a problem with baby's kidney. I went to get a high risk ultrasound done and they found that baby has a hole in her heart, a blockage in her kidney, a club foot, and the single umbilical artery. From there we were told to see a fetal cardiologist who did an echocardiogram and told us that baby has the hole in her heart (VSD) as well as a blockage of her aortic artery.

With all these issues, we had an amniocentesis done and were told that most likely it would come back as Trisomy 18 or 13. We prepared for the worst but decided we would carry this little girl for as long as God would allow and pray for as much time as he would grant us. Last Friday, we got the FiSH (preliminary) results of the Amnio and, miraculously, were told that they were normal. The geneticist told me that this ruled out any syndromes that included multiple or deleted chromosomes to include the trisomy's.

I googled and googled (I know, I know, I just couldn't help myself) and most of what I read was encouraging stating that the FiSH results were pretty accurate. But what I'm confused about is what are the disorders that the FiSH results wouldn't pick up?

Doctors have told me that all of her problems are fixable, albeit entail surgeries, as long as there are no other underlying problems. I guess my question is, with all these problems, could it be a fluke that just happened to her? Could the Single Umbilical Artery have been the cause of the other issues? Or do you think we are most likely still facing a genetic disorder? I know that answers will come with time and patience and only my doctors and the results of the final Amnio can tell me for sure what is going on but I was hoping someone may have faced some similar issues and may be able to give some feedback and positive (or negative) outcomes. We get the results of the final Amnio sometime next week.

Best case scenario is that these issues need to be dealt with but at least there is a plan in place and, while it will be a rough patch, she has a chance at a normal life, long term. Worst case, we're still facing a genetic disorder that means a handicapped child or another disorder that is "incompatible with life."

Sarafuss · March 2016

I'm so sorry for what you are going through. My last baby had some physical issues seen on ultrasound (2 large VSD's among other things) and we had an amnio done. The FISH results only give you the results for chromosomes 13, 18, 21, X & Y. Our FISH results came back normal but the full results showed she had a large deletion of her 5th chromosome and that condition is called Cri du Chat. Because there are multiple issues I would think it might be a genetic disorder. But I'm obviously not a doctor and they could just be unrelated. I am pregnant again and had an amnio done due to my history and our FISH results came back normal. We are currently waiting on our full results. Good luck to you!

kmcorter · March 2016

Thank you for sharing your experience. I actually got a phone call today and the microarray from the amnio came back normal as well. Doctor said that's good news and means no deletions or multiples on any of the chromosomes. I'm trying to stay positive but my logic is telling me the same thing you said, that with this many issues I would think something is going on. He seemed confident though that from here, we deal with what we've already identified and there "shouldn't" be any other issues.

hope you get your full results soon and they come back normal as well!

rachieee2 · March 2016

We just went through something very similar. Our little girl had extra fluid that we found on the ultrasound at 13 weeks. The doctors told us it is a marker for Down syndrome. so we did a CVS. The waiting game was agonizing but the FIsH results and the micro array all came back normal. She had clubbed feet, a single artery in her cord, and was very swollen from the fluid as it kept increasing each week and spread to her belly and lungs. It took us a while to find out what was causing the fluid build up. Finally the fetal echo at 20.5 weeks confirmed that she had a very severe heart defect. She had AVSD which is similar but it is a more severe condition than your little babe's. She passed away a week after we found that out when I was 22 weeks pregnant last month. When they told us the diagnosis they told us she probably wouldn't make it much longer based on how severe it was and how severe the fluid build up was.
We are still waiting on the autopsy results to confirm whether it was a random case or related to genetics but she far the testing shows its random and the doctors believe it is too. We had a miscarriage at 12 weeks last year so we r still scared its genetic but we should get the results soon

I know from my own research that VSD is less severe and has many success stories for many babies that had it. It is also very good that your doctors are optimistic about it too.

I will be thinking of you lots because I know the stress that this all can bring. It's horrible to go through it all. Keep us posted! Xo

CourtJack · March 2016

Not identical issues, but we were told possible VSD and short long bones. NIPT, amnio, microarray have all come back normal - but genetics still thinks there is an underlying condition to account for the two issues. I'm 28 weeks now, and so it's a matter of waiting it out, while being followed by a high-risk doctor (ultrasounds every other week). What is your treatment plan from here on out? Did the doctors offer any hypotheses on what could be going on? Did they suggest perhaps the SUA could cause the other issues? I know a VSD is incredibly common and depending on the type of it, could close on its own, or could require surgery. My fetal cardiologist was very clear with me that the surgery required for a vsd has an excellent outcome and baby's prognosis was excellent. So I hope that comforts you a bit.

Sorry you found all this out - it's so stressful to know about all these potential issues. Is genetics going to do further testing after LO is here? Even if there is a genetic disorder, try not to assume it's something that would massively impact your child - it could be something small, or very manageable.

thinking of you!

nativetexan512 · April 2016

I'm so sorry you are going through this. I have a friend who went through something similar, and they found out there was a genetic issue after lengthy genetic testing of child and both parents. Thankfully, their daughter is doing amazing. Here is her blog: https://loveteamsawyer.blogspot.com/

Heart Defects, Kidney Problems, Club foot, and SUA

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