Microarray Testing?

missab

I did a search and couldn't find anything on this topic: has anyone been offered, and planning to do or had, a microarray screening?

For anyone not familiar with it, this is a decent primer (not from the practice I go to, but the best and most straight forward description I could find): https://www.sfperinatal.com/index.php/?option=com_content&view=article&id=125

I am having amnio done this Wednesday (despite a 'low risk' Maternit21 result) because amniotic fluid must be used for the microarray. From what I have read, the tests (well, the results, really) appear to spark a lot of controversy because results can be difficult to interpret in a meaningful way. If anyone here has done it, I would love to hear about your experience and if you plan to, what made you decide to and how are you feeling about it?

We are doing it because, after many days of thought-provoking and mentally exhausting debate on the issue, DH and I decided that we can handle any news we receive and will use it to be proactive and diligent on behalf of our child if we learn anything troublesome. Still, I feel that we sort of came to this decision in a bubble because I haven't been able to find many personal experiences/anecdotes.

Thanks in advance for any feedback.

frenchyj

I haven't done the test but I have done an Amnio. The risk for miscarriage is very low. I stayed very still, watched the needle on a tv screen, so i knew once they got the fluid, then they slowly pulled it out and I was done! It was very painless with minimal cramping (way less then period cramps). Tylenol was fine for the day. Good luck!

Cliffhaven

I did get a slew of microdeletion tests done via verity and should have results next week. I know it can potentially open up a huge can of worms but I wanted the results anyway; I'm going to be 39 next month so higher risk but also because I am a doctor and I think my perceptions of chromosomal issues are skewed because I have had clinical experience with the severe ends of the various spectrums. Ultimately the decision came down to: would you change or do something differently based on those results and for me the answer was a yes. Not an easy decision, though. The geneticist I was talking to agreed that in my shoes she would be tempted as well...but knowing that the temptation is due to a biased life experience in our cases.

Smash1215

I have zero experience in fetal microarray testing, however I have used microarray testing for lots of other stuff. Microarray a can be difficult to interpret because they tell you expression levels--how active or inactive a gene is. For some markers this could be super obvious, but for others there might be more minor changes. Not to say this is bad, just that caution should be used in interpreting the results. I could see there being a high incidence of false positives, depending on what the criteria thresholds are.

ewilson74

Similar to Maternit21, I had the Panarama NIPT ($800), which for $300 more does microdeletion (which I did not get done - it tests for things like Prader Willi) https://www.panoramatest.com/en/healthcare-provider

Not sure the difference between what panarama tests for and doing an amnio. But only blood work is required for the former.

missab

Thanks for the reply @ewilson74.  The additional syndromes that are searched for with Panorama appear to only be microdeletions (and only a few of them at that) so doesn't appear to be comparable to the microarray, which screens for hundreds of syndromes/genetic diseases and looks for not only microdeletions but also microduplications.  As a test, it appears that the microarray is most similar to (and may someday replace) karyotyping.   

I so wish I could find people with more experience on this!  Anyway, thanks again so much for the reply.   

starshollow

I am confused about why you are doing it? You are low risk and had a Materni21 test that confirmed low risk? Am I understanding correctly? 

I have a friend that did this with her second pregnancy. The only reason she did was because they discovered a micro deletion through genetic testing with her older child. She opted for the microarray just to see if her fetus had the same chromosome abnormality, (she did not. It was a random mutation).

 An amnio does carry risks. I would never choose to do it unless there was definite cause for concern.

missab

@foozle -- for us, accessing additional information about hundreds of potential health issues that our baby might/could have, either at birth or at some point in his life, swayed us to proceed with this testing despite the small risk associated with amnio.  I live in Manhattan and my doctor has performed thousands of amnios; I feel safe in his hands.  If not for the microarray, we would not proceed with having amnio solely to confirm with a test what Maternit21 told us on the screening.  However, everyone feels differently about whether to test and how much testing is appropriate; it is a personal choice.  I was/am interested in the experiences of others because I have really only read and been able to find a handful of media stories and other blog/forum-type entries, all of which seem to tell only the pretty extreme stories ("this testing saved our baby's life" versus "getting this testing was the worst decision we ever made") so I was hoping to hear some more practical/real-life, everyday type experiences, if anyone had any.   

missab

thank you @frenchyj!

missab

Good luck with your test results @cliffhaven!  

@smash1215 -- I agree, the interpretation of results certainly seems like it could be quite the Pandora's box, and that's very intimidating.  It would be naïve to say we're prepared to handle whatever we might learn, but I think we are comfortable with the path we've chosen and our reasons for doing so, and hopefully we can keep that in mind in the face of any alarming or confusing/frustrating results.  

missab

*update* -- had my amnio done this morning and all went well. I was nervous of course, and being a FTM I didn't entirely know what to expect; turns out it was not scary at all. My obgyn, a perinatologist and tech were all in the room, and I watched the baby the whole time on the high def sonogram, and listened to the docs devise their game plan, which also set my mind at ease. The needle/pressure part was all of one minute at most and at highest a 2 on the pain scale; barely more than a pinch.

I knew that was only one stage though and that the rest of the day could bring some pain, spotting or other complications. I was told to take the rest of the day off from work just in case. Well, it's been about 8 hours now and I feel completely fine. I get amnio results in a week and microarray results in two weeks and will update further. Sorry for the long post, but thought it might be useful for anyone who is given the microarray option to be able to search this thread. Thanks again for all the well wishes -- now just crossing fingers for good results!