Normal amnio results...would you pursue further testing?

[missmc]

So far I've gotten all normal results back from amnio testing and a fetal echo. The genetic counselor mentioned that my MFM dr might want to do a microarray and possibly an eventual MRI. I have another lvl 2 u/s appointment on Friday and I plan to discuss these with him then.

I'm just curious if you've had an amnio and it came back normal, did you pursue further testing? Why or why not?

If you've had a microarray, did they also do a blood study on you and baby's father?


A little background: Baby girl has pleural effusions (fluid in the chest). It is extremely rare to have this and not have an underlying condition.

[ibisgirldc]

I did not do other testing beyond the high-risk genetic screening and the amniocentesis. Oh, we did do an echo, too, but that's b/c my brother had a congential heart defect. But my baby did not have signs of having health issues so my situation is entirely different for that reason. If I'd had an identified problem (or concern that there was one), it's possible that I would have taken additional screening steps. I would just talk to your doctor as you're planning to do and see what he/she says the benefits would be. Rather, unless there were significant risks, yes, I would probably do additional testing.

(And good news about the clean amnio! Good luck with whatever else is to come!)

[tanyachap]

I would go for more tests. DS2 had large nuchal measurement (way beyond the cut off) which is often associated with downs or congenital heart disease. I had CVS (diagnostic test like amnio) and it affirmatively ruled downs. Then, I had very long US exam at 23-24 weeks with echo cardiogram for the baby which ruled out heart problems. So, yes, if there were indications for further problems (in my case, possible heart issues), I would most definitely undergo additional testing to rule out one thing or another.

[Suja]

Especially if the procedures are non-invasive, I'd definitely get them done.

[runningmomofmany]

For me it would depend on what you are going to do with the information,, and how high your tolerance is for not knowing. When I was pregnant with my youngest they found what they believed to be a heart defect at 20wks. We had an echo done and everything looked ok. The peri was really pushing us to have an amnio because he wasn't convinced there was no defect, and the defect he thought was there was possibly associated with trisomy 18. DH and I knew we wouldn't terminat. We wefe delivering at a hospital with high level care having an early c/s in controled environment. We just took it as a warning that something might be wrong. So if I were in your place I wouldn't pursue further testing. I know not everyone feels that way though.

What will change for you with more information? Do you want to abort if the baby has a problem? Do you need the information to help choose a hospital/birth care? Do you just want to know? How invasive is the testing? How expensive?

[missmc]

Thanks for all of your input.

From what the genetic counselor told me today, it would be non-invasive. They can use left over fluid from the amnio to perform the microarray and then would have to draw blood from me and dh. I've read that it can be pricey, and we'd have to check on if insurance would cover it. If they won't, well, there's my answer.

I definitely would not terminate, no matter the outcome. But, it could make a difference on where/how I deliver and determine level of intervention (in utero) if necessary.

This would also be a preparation step for me, to know what I'm dealing with and what to expect when she is born (length of nicu stay, possible surgeries, etc). I could live without knowing, but they will probably do this same thing after she is born, by either taking cord blood or getting a blood draw from her.

I'm usually the one who skips all of the testing, but I've never been faced with this situation before. The MFM dr has really pushed testing, I'm sure he also wants to find out what we're dealing with.

[Ky'sMom]

With your additional information, I would get the testing if the insurance covers it. I never even thought of termination though, that is just way out there for me from what you described. I would want to know if there were any other health needs that baby would need upon birth or in utero. Really after the birth would be my main concern, especially if this has some sort of heart defects or other problems that doctors would benefit from knowing before hand in order to provide the best care in case of a NICU stay.

Erin

[runningmomofmany]

My MFM really pushed for testing, even after we said we wouldn't terminate. Even later in the pregnancy.i think he just wanted to know, because it wouldn't have changed anything at all. He was sure of what he saw on the US, despite of what the cardiologist said. DD was born with a (nearly) perfect heart, just a heart murmur which wasn't what they saw on the US.

I hadn't thought of interutero intervention. What kind of condition can the microarray pick up that the amino didn't? You can be sure it is not a chromosomal disorder, right?

Good luck with your decision.

[CamaLamaMama]

I would have said no a few months ago, but now that I am having a pregnancy with so many complications I have to say I would. The testing hasn't changed any of my opinions of termination, I'm still going to deliver both babies even though I know one is going to die shortly after birth. We have a diagnosis itof anecephaly for one of our mono/mono twins. We also found that there is a condition called twin to twin fluid transfusion that they have as well. Knowing all of this has made me change drs, hospitals and has given me an idea of what it is that I can do to help my babies while they are in utero. I would do any non invasive testing I needed.

We had talked about a cord ablasion to reduce the pregnancy to one baby, but that and the tests that determine if we can safely do it are riskier than continuing the pregnancy with both babies. I think it's about weighing options and seeing what is best.

Fingers crossed that you start to only get good news! You'll be in my thoughts and prayers!

[missmc]

My MFM really pushed for testing, even after we said we wouldn't terminate. Even later in the pregnancy.i think he just wanted to know, because it wouldn't have changed anything at all. He was sure of what he saw on the US, despite of what the cardiologist said. DD was born with a (nearly) perfect heart, just a heart murmur which wasn't what they saw on the US.

I hadn't thought of interutero intervention. What kind of condition can the microarray pick up that the amino didn't? You can be sure it is not a chromosomal disorder, right?

Good luck with your decision.

It can detect small to medium changes in the chromosomes. The amnio just identifies that she has the right amount of chromosomes and that there aren't any additions or deletions.


Intervention could becone necessaray if the fluid increases in her chest (the reason for my weekly ultrasounds) but depending on how far along I am at the point this becomes necessary, they may opt to do an early c/s if they feel it is in her best interest. The additional information from the mircoarray could help with these decisions.

This whole situation becomes even more puzzling, especially when you start taking into account the odds of this happening and not having some form of a trisomy or neural tube defect (which has also come back normal). I also think they want to give me some sort of a prognosis and they can't do that right now. With each test that comes back normal, I become more hopeful, but I also want to be realistic. KWIM?

I'm really leaning towards moving forward with this, if insurance covers it. My mom thinks I should let it go because it could cause me more stress. I don't necessarily agree with her opinion becuase I think I'm going to have some level of stress no matter what.

It's hard finding someone who has gone through the same thing, and someone who is doing this test for medical reasons, rather than just peace of mind. I've met others on another board who have gone through something similar, but most of them had a form of trisomy or heart defect, so they didn't have a good outcome.

[missmc]

I would have said no a few months ago, but now that I am having a pregnancy with so many complications I have to say I would. The testing hasn't changed any of my opinions of termination, I'm still going to deliver both babies even though I know one is going to die shortly after birth. We have a diagnosis itof anecephaly for one of our mono/mono twins. We also found that there is a condition called twin to twin fluid transfusion that they have as well. Knowing all of this has made me change drs, hospitals and has given me an idea of what it is that I can do to help my babies while they are in utero. I would do any non invasive testing I needed.

We had talked about a cord ablasion to reduce the pregnancy to one baby, but that and the tests that determine if we can safely do it are riskier than continuing the pregnancy with both babies. I think it's about weighing options and seeing what is best.

Fingers crossed that you start to only get good news! You'll be in my thoughts and prayers!

Thank you. I continue to do the same for you!

[runningmomofmany]

I think I would probably do it if there was a chance the results could give insight for treatment. I read a little about the pleural effusion, and from what I can gather it can be caused by 4 things-- a chromosomal disorder (which has been ruled out), a structural defect (also ruled out), an illness, and "unknown"(most common). Sounds like the microarray could possibly dx the illness? (caused by slight changes in DNA?). I agree that you are going to have some stress! I'm sorry you are going through this with your tiny girl.

[preciousnd98]

I am so sorry you are having to make these decisions I think, in your situation, I would probably do the further testing so we could have as much information as possible.

[mla]

I would do the further testing.