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those that had CVS/amnio done -- did you opt for microarray testing?
I posted a couple weeks ago about cystic hygroma, and have been lurking around since.
I went for the CVS and before the procedure, I was told the first round of my quad screen came back with elevated risks for Ds (1 in 25 from 1 in 660) & (to a lesser extent, but still elevated) trisomies 13,18 (1 in 2500 from 1 in 6600), but that was to be expected with cystic hygroma. Had the test run on a Thursday and got the FISH results on Monday - negative for Down, Turner, trisomies 13 & 18. The genetic counselor told me that our little girl went for a 10% chance of live birth to 40-50%. I'll take it!! We should have the rest of the results by the end of the week.
On to my question....
did you opt for a microarray test after getting your results? What more will the micro array tell us? I've been under the impression that it looks deeper into the genes that have duplications/deletions - what if the CVS reveals that there aren't any, is microarray still an option?
I feel like I'm probably jumping the gun, but I'm not sure what we should do. I don't want to feel like I'm looking for something to be wrong* with her, but at the same time, if there's something wrong*, I want to know. ****wrong is not the right word, and I'm sorry if it's offensive to anyone. I'm not sure what the right word in this situation is****
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Re: those that had CVS/amnio done -- did you opt for microarray testing?
We did an amnio at 30 weeks which came back normal. There were a bunch of indicators so after Isabel was born, we did the microarray which also came back normal. We've also done additional testing for specific disorders and still have no diagnosis.
thanks.
I realize she could still have genetic issues, I'm just trying to prepare myself as best I can.
Hi! Your situation is so much like ours was. We did do a microarray with the DNA from the CVS and it was normal. In our case our DD also appears to be developing typically at this point (she will be a year old in a few days). I would say do it...if your insurance will pay for it, and wait if it won't. They will probably want you to have some fetal echocardiograms as well (ultrasounds that look at the heart).
Good luck! You already know it's possible your child may have a genetic syndrome but it's also possible that there will not be any abnormalities. I wish you the best! Please PM me if you want any more detailed info at some point.
I did not get the microarray because they told me that it's still very new and that there may be things that show up on it they can't explain. Like a little schmutz here or there. I decided it wasn't worth it for me because I would always wonder if that little schmutz was causing DS not to sit up or something like that. Ya know?
I didn't want the added frustration. I had my amnio done at 28 weeks.
I did not know the microarray was available with the CVS when I had it done. I was told I was having "a boy without any genetic issues". Wrong.
He has three microdeletions on chromosome 1 that have caused multiple issues. All of this was a big fat surprise on delivery day. I would have liked to have been more prepared. Instead, we were scared out of our minds for a week and a half.
If we decide to have another I will be doing the micro-array. The only thing I would wonder about is that even those probably aren't 100%. You could end up having a mosaic chromosome situation where 1/2 the chromos are "normal" and half of them have issues. Maybe the sample they took had to good cells or vice versa.
Really, prenatal testing is really only useful if you may want to terminate a pregnancy or you find that your baby has a syndrome that is incompatible with life- like Trisomy 13 or 18.
Genetics is not a sure science. And no tests can prepare you for what you will ultimately discover once your baby is born. With DD, it took 2 years after her birth to really know the extent of her disabilities and health issues. But at our 18 week fetal survey the only abnormalities that could be detected was a 2 vessel cord and that her hands and feet looked funny. If I had known then the extent of her problems I would've terminated- but that wasn't possible by the lack of genetic tests available.
Most likely you will have a live birth- but you won't know for sure if there are issues until then.
We had a test for Noonan syndrome too...through the Laboratory of Molecular Medicine at Harvard. They did not find any mutations in the places they were looking...but one previous poster mentioned that they may sometimes find a little, "shmutz" and in our case they did. They found a mutation they'd never seen, which my DH also has. Since DH doesn't have any clinical signs of a genetic syndrome they ruled the mutation "benign," and it doesn't seem to be related to anything (that we can tell anyway).
I agree with crazycrustacean though...something to think about is that something might come up that could be clinically insignificant, but that they may not really know about and that might worry you unnecessarily. So, it's a tough call. I erred on the side of more information, but in the end, I'm not sure it was the best choice. Hang in there!
I would say personally I do partially agree with Amajane in one sense...I had a psychiatrist tell me while I was going through all this prenatal testing (in the case of the microarray and Noonan test at a point that was past a gestational age I would have felt termination was a choice) that in medicine we shouldn't have tests if they would not change our course of action. So, termination isn't the only reason you might have the microarray or some other prenatal test...you might want to gather all the info you can so that if something comes up you can be at the right hospital with an appropriate NICU, you might want to get more birth support if you know you will be delivering a special needs child, you might want to tell your family, you might want to gather more information etc.... But, it's true, if termination is off the table for you no matter what it might be best in some ways to try and come to terms with the fact that you won't really be sure nothing is abnormal about your little one until they are born. There isn't a test for "nothing is abnormal." This NT test is so tough when you get the results you and I got! What do you do? It's so personal, these choices.
I wish you the best in your decisions...you'll make the right ones for your family and if you get the microarray done at least you would have that info. For me, honestly, I just moved on to worrying about the next thing...but I'm also an anxious person. I thought it was impossible that my DD might be born healthy though...but she was, so it can happen. And either way you will do the right thing for your little one. Hugs!
We did not find out that Dean had something wrong until birth. I had a "normal' pregnancy and so no prenatal genetic testing. However, his syndrome would not likely have been detected even with prenatal testing (only catches about 30% of cases of PWS). We had to do a specific methylation study on chromosome 15 since the geneticist was pretty sure Dean had PWS (and he was right). Would I have preferred to know beforehand? I'm not sure. It wouldn't have changed anything for us, and I'm not really sure we would have been all that much more prepared once he was born.... maybe we just wouldn't have had to wonder for 3 weeks what was going on and if he was going to live. But I might have been a basket case, too.
Anyway, best of luck in your decision. I don't think there's a right one in terms of whether to continue with testing, just whatever you feel you need to do!
thanks everyone.
I know I can't be prepared for EVERYTHING until after she's here and we know what we're dealing with. I've been looking all over for hospitals with lymphatic malformation departments and well as looking for local cemeteries. I know I won't be 100% prepared for what will be, but at least I can have my ducks in a row.
I've been through drs telling me "your child has slanted eyes" when DD arrived at the NICU (at 4 days old - transfer from another hospital) before introducing themselves. I went through the hoops of genetic testing then to be told that I had a perfectly healthy, chromosomally normal baby that (direct quote from the geneticist) "looks a lot like she's part Japanese. Exactly how my daughter did at birth". If the neonatalogist had looked at any of my/her history**, he'd have know that she's a quarter Japanese, and at birth, she looked EXACTLY like her Oji-chan (grandfather). She never once saw the dr who authorized her transfer to that hospital, b/c the neonatalogist thought he was the be all/end all.
I'm trying to avoid having a repeat experience by preparing myself now.
**it was in my/her history that she's part Japanese b/c when DH was born, they wouldn't release him from the hospital b/c he was yellow, but his biliruben(sp?) levels seemed normal and the lights weren't helping. FIL had to take the dr aside (29 years ago) and explain he wasn't white so his baby may not be completely white either -- he went home that afternoon.
This is my first post/response at all on here. I mostly lurk. So, I had the CVS done and also sent for CGH testing because the baby NT was slightly large. CVS came back normal, CGH came back with a partial microdeletion of 17q12 chromosome. What does it mean? Well, my baby may or may not have kidney issues and diabetes later in life, my baby may or may not have reproductive issues. It's not something my husband or I carry, it was just something that happened. The level 2 really didn't take that long at all and the baby is growing and developing perfectly normally. Appropriate placement of ears/eyes and all, perfect kidneys. So where do I sit? With knowledge that there will be extra doctor's appointments and blood draws that other kids won't have to go through. Because even though the baby may be born completely healthy with perfect everything, I have this knowledge that something could come up in the future and at least I can stay on top of it, instead of being blind sided later. What my baby has is rare and I am completely okay with it. Do I wish it wouldn't have to go through the extra crap, on top of just having to deal with growing up? Yep.
So, as a pediatric nurse and former NICU nurse, here is what I can tell you from the standpoint of your Level 2 being quick. Did they not take enough time? Well, some people are quicker at what they do and perhaps your baby was being a bit more cooperative. Does quicker mean not as good? Nope, I have worked with docs who are quick with terrible bedside manner, that I would choose for myself in a heartbeat. I have worked with docs that are sweet and kind and have really great interpersonal skills, but I wouldn't want them to care for my kid.
Should you get it done? That really is a personal decision. The idea that if you are looking for something and if you find something, was it because you somehow willed it to be? No, that is not the case. With what my baby has, medical issues may not ever be an issue, or not until it is an adult, but at least, it won't be out of left field. If you are worried about down's there are tell tale signs that would show up, if nothing more than low set ears. If the almond shape eyes (slanty was not the term that doc should have used) could be a familial trait, fine, don't worry about that. But are they wide spaced? What about the shape of the mouth and tongue? That may be something to wait for birth anyway. Down's kids may have cardiac and intestinal issues, but not all do. There are many other "tell tale" signs, but not every baby has all of them. Will the knowledge help you? Sure, you can get up to speed with what should be happening once your baby is born, ie tests etc. That way you can be your own advocate and feel comfortable about it. Sure most docs don't know a lot about what my baby has, but it doesn't mean I should remain in the dark as well.
It's easy for people to tell you not to worry and to remain positive. But, you should know that all of the things you are feeling are completely normal and that it is okay for you to be feeling them. Sending you lots of good energy and a big hug too.