To amniocentesis, or not to amniocentesis


#1

Well, one of my worst fears have come true. We got our Panorama test back last week and it was positive for Monosomy X, or Turner Syndrome. I was devastated and my husband and I spent the day in tears thinking that the pregnancy was definitely doomed. A few days later I was able to get into MFM and meet with a genetic counselor and a high risk doc. The genetic counselor explained that there are several possible scenarios including a false positive, an abnormal placenta (where the placenta is monosomy x but the baby is normal) or a mosaic turner syndrome where only some of the cells are affected. We had an ultrasound where everything including the heart and kidneys looks perfectly normal. After a few more days of soul searching and reading everything that I can find on Turner syndrome, I am feeling like this is definitely not the worst possible diagnosis and if we can make it to term, our baby has a very good chance of a healthy and happy life.
My biggest concern is that most babies with Turner Syndrome miscarry (98%). This supposedly happens mostly in the first trimester and I am now at 15+ weeks. Most of the miscarriages are due to structural abnormalities (none of which we have by ultrasound). My husband and I are NOT thinking about termination, so the only reason to do an amniocentesis at this point is A)to know for sure what our daughter will be dealing with and B) if it is full Turner Syndrome, I can prepare for the possibility of a late miscarriage.
I just don’t know what to do. I hate that the amniocentesis carries risks and that I could put our baby in jeopardy, but part of me would also like to know what we are facing, so that I can arm myself with as much information as possible before she is born.
Has anyone else dealt with this decision or have any advice? As of now, I have an amnio scheduled for this coming Weds.


#2

I have been in a similar situation with this pregnancy due to my age and the higher risks of abnormalities that comes with that. We opted, since we would not terminate, not to do the amnio or CVS as we felt all that would do is add risk to the pregnancy that may actually be a perfectly healthy baby. I believe that if there is nothing they can do in utero (such as surgery for something) and nothing they need to be prepared for right after birth (such as heart surgery) then there is no sense in adding that extra risk just to know something you will find out soon enough. Afterall your ultrasound shows a perfectly healthy baby and you haven’t miscarried yet which is affirmation that maybe nothing is wrong.

I totally understand wanting to be prepared for a potential late term miscarriage or even the issues that come after birth with turner syndrome, but you can still prepare yourself as much as you can without having the amnio. The way I see it knowing for sure while adding the risk of the amnio won’t really change your need to prepare should you find turner syndrome is in fact there all it will do is put your mind at ease if it isn’t right!!! So…I can certainly understand why you would want that peace of mind there is no guarantee you will get it so you could end up in the same situation or even worse cause a miscarriage of a perfectly healthy baby due to the extra risk of the amnio or CVS test itself.

Ultimately we chose not to test further with anything more invasive than blood tests.

It is certainly a tough decision :grouphug: and one you have to make with your spouse and do what feels most right for you in particular given your particular situation. So I tell you what we decided and why we chose that route and why we feel confident in our decision, but you just have to do what is right for you personally. Hope my experience helps somehow though! :flower:


#3

I am so sorry that you are going through this. Typically I am in the “information is power” camp, but in this circumstance you have a tentative diagnosis and are not considering termination. Therefore, if it were me, I would not choose the added discomfort and risk of amnio when you will be able to get an answer very quickly after birth. Best wishes that things go well and that your daughter is very healthy. :grouphug:


#4

[QUOTE=musicgal]Well, one of my worst fears have come true. We got our Panorama test back last week and it was positive for Monosomy X, or Turner Syndrome. I was devastated and my husband and I spent the day in tears thinking that the pregnancy was definitely doomed. A few days later I was able to get into MFM and meet with a genetic counselor and a high risk doc. The genetic counselor explained that there are several possible scenarios including a false positive, an abnormal placenta (where the placenta is monosomy x but the baby is normal) or a mosaic turner syndrome where only some of the cells are affected. We had an ultrasound where everything including the heart and kidneys looks perfectly normal. After a few more days of soul searching and reading everything that I can find on Turner syndrome, I am feeling like this is definitely not the worst possible diagnosis and if we can make it to term, our baby has a very good chance of a healthy and happy life.
My biggest concern is that most babies with Turner Syndrome miscarry (98%). This supposedly happens mostly in the first trimester and I am now at 15+ weeks. Most of the miscarriages are due to structural abnormalities (none of which we have by ultrasound). My husband and I are NOT thinking about termination, so the only reason to do an amniocentesis at this point is A)to know for sure what our daughter will be dealing with and B) if it is full Turner Syndrome, I can prepare for the possibility of a late miscarriage.
I just don’t know what to do. I hate that the amniocentesis carries risks and that I could put our baby in jeopardy, but part of me would also like to know what we are facing, so that I can arm myself with as much information as possible before she is born.
Has anyone else dealt with this decision or have any advice? As of now, I have an amnio scheduled for this coming Weds.[/QUOTE]

To cover all their bases, doctors have to tell you that there’s a 1% chance of miscarriage from tests like amnio or CVS, but it’s really much, much lower.

If you opt for amnio, also ask that a FISH study be done to accompany it. If the sample is being pulled from the amniotic fluid anyway, it wouldn’t hurt to have the extra test run on it in the lab. The FISH will look at each individual chromosome and its structure. The amnio will only look for a few things, such as Down’s or Turners. Just because an amnio alone turns up normal doesn’t mean the baby will be genetically normal. Amnio (and also CVS) alone only look for extra chromosomes or missing chromosomes. Pieces of chromosomes could be missing and that could mean problems, but that won’t show up on an amnio because at least part of the chromosome is present.

I had a CVS after an iffy NT scan and then when CVS results were normal, I thought I was in the clear and that all my babies would be healthy. The babies grew well in utero and scored 100% on all of their biophysical profiles. They always had strong heart beats and all their internal organs looked good. Heart problem was detected at 24-26 weeks (hard to detect it earlier because it’s too small to see) but I thought otherwise everything would be fine.

Turns out, everything wasn’t fine. FISH was done after birth because of problems. I had never heard of a FISH until then. There were no developmental problems inside the womb because the placenta was doing all the work for them. It’s when they get out and have to survive on their own is when the struggles start.

If you don’t opt for the amnio, you might want to ask your OB/MFM if they can do a fetal echocardiogram early in the third trimester. The echo is similar to an ultrasound and poses no threat to the baby and only takes a few minutes. If anything looks suspicious there, you’ll probably be referred to a pediatric cardiologist. Often times babies with genetic abnormalities have heart problems, even if they have normal heart beats. However, not all babies with heart issues are genetically abnormal.

I’m not trying to scare anybody, but I just wanted to share my experience with prenatal testing because it’s not fool-proof.


#5

First of all, you are correct that Turner Syndrome is one of the better chromosomal issues to have. I can say that, as someone who is Turner mosaic myself. Granted, I have a very small percentage of cells effected (3% 45XO and 4%47XXX), but we would not even know about this had I not been karotyped during treatment. Please feel free to PM me if you want more information about TS. I’m sure you’ve done a lot of reading, but I’m happy to chat with you or share other things I’ve heard from my own geneticist, if you want.

I think the amnio is up to you and your level of comfort with the procedure. I had an amnio at 20 weeks when they found fluid on my son’s neck and forehead. It was one of the scariest days of my life. The doctors seemed very concerned and were very serious. I wish I had known more about NT testing…it’s usually only accurate in fetuses around 11-14 weeks, so I’m not sure why they did mine at 20??? Anyway, we DID go ahead with the amnio. It was a very easy procedure and everything was fine. However, I did wake up the next morning with ridiculous cramping and thought I was miscarrying…it was just gas. Talk about scary!!!

Our results came back normal, and that allowed me to enjoy the rest of my pregnancy. If you are the kind of person that wants all the information and needs to mentally prepare yourself, it might be a good idea. Additionally, there is a chance you will still lose the pregnancy with TS (I knew a lady on here who lost her baby around 16 weeks because of TS), and this might help you prepare for it. It’s totally up to you and your level of comfort with this information and the risks involved. Personally, I feel that the risks are very low…I think at my clinic they are 1/400, which was better than our natural risk of mc.

Best wishes in whatever you decide. Will be thinking of you and hoping for a happy and healthy baby. :slight_smile:


#6

Thank you all for your replies. Right now I am thinking that we won’t do the amniocentesis on Wednesday. As it stands, it won’t give us enough information to be worth the risk and it will also be unlikely to give me the peace of mind that this pregnancy will continue without a hitch. There are just no guarantees. I think that I will wait until the 20 week ultrasound and then if any major anomalies are found, perhaps we will rethink doing it then.


#7

It sounds like you have a good plan for going forward. Waiting on the amnio until 20 weeks if you see abnormalities seems like a good way to deal with it. I think one benefit of the amnio would be to calm you a little bit if you thought you were going to spend the rest of the pregnancy worrying constantly about the idea of a late-term miscarriage, which wouldn’t be good for you or the baby, but if you can take it a day at a time, 20 weeks will be here before you know it. Hopefully, you won’t see further abnormalities and you’ll be able to relax a bit! I’ll be thinking about you and your baby and hoping for the best.