Microarray Test—Please Advise!

[Redstar2015]

Hi,

Im not sure if this is the right place to post, but my baby (6 days old) is currently undergoing genetic testing. When he was first born the Pediatrics team thought he had several markers of Down syndrome so sent off tests. These turned out negative and a few days with swelling going down plus further checks really shifted things (ie he had lower muscle tone at first but now is fine). The geneticist said there was nothing specific of concern other than some “subtle clues” which could be nothing. These were minimal and she had no specific condition in mind so wondering how long this questioning of ds goes on when there aren’t any specific signs of anything wrong. We’ve been living in constant fear and worry since he was born and just want to be able to relax and be his parents. But it’s hard not knowing when this ends!

I should add that I feel a bit confused on microarray testing as it seems like most people start with a concern that they get the test for. However as the concern was Down syndrome and that’s negative and other things they marked as a concern are no longer a concern it feels strange to push forward with more testing. Is it normal for these tests to go on like this in such a situation and with such a young baby?

It is normal for HCPs to investigate further when they have any concerns, even if they can’t pinpoint a specific concern. Better to investigate and it turn out to be nothing than miss something.

Well, there is this project:

https://www.nuffieldbioethics.org/blog/whole-genome-sequencing-in-newborns-benefits-and-risks#:~:text=The%20Newborn%20Genomes%20Programme&text=The%20genomic%20sequence%20data%20will,to%20the%20long%2Dterm%20prognosis.

My dd had micro array test when she was primary school age, found a small deletion chromosome 15p . Was offered parental blood test, but my husband refused it. So I didn't follow it up.
The doctors are being cautious , I would be worried to, but hopefully once you get the test results back you can relax. Think it took a couple of months, this was more than 10 years ago.
Until then the only thing you can do is to enjoy your son, sleepless nights etc.
Dd has been through so many tests eeg, ecg etc.
Hopefully your be posting good news in a couple of months nothing bad found or your know what's wrong and will get the best help and advice possible.

@iwanttoscream , I am hoping that is the case. We are feeling cautiously optimistic now as the geneticists reviewed his case and agreed they don’t think anything else is going on. The lab results will also be back quite quickly—possibly Monday—so we hear from them again on Tuesday for final results.

That's good, hopefully the results will show no concern.
But if they find anything, it's better to find out now .
The organisations I can think of is unique and swan that have information about different chromosome issues.
Wishing you good news next week..

@iwanttoscream , I created a new thread but realised I never updated here. The microarray results came back normal. However, at a 6-month review with ds the geneticist decided she wanted to pursue further testing as the soft markers she noted before seemed more rather than less prominent. I’ve been struggling ever since as it took me by surprise—until that point I thought my little boy was growing and developing well so surely all was fine.

He’s now due to get more bloods and X-rays to check bone growth. Then if we consent they want to do whole genome sequencing as the team of geneticists can’t pinpoint any specific syndrome or condition. They still thought there was a chance he had mosaic Down syndrome at the last review, but he had another type of blood test to check on this and ruled that out.

I can’t figure if she’s certain he has something or just wants to be sure they don’t miss anything. I’ve looked into SWAN but at this point I don’t know if it’s the right support group and the wait list for counselling on the NHS is long so I’m just left to struggle on my own…it’s been really tough. Not helped by the fact we spent a week in hospital over Christmas as ds got a bad case of RSV so was on oxygen and getting tube fed.

Rsv is nasty, wouldn't wish it on anyone.. My 2 had it as babies they got it from there brother who was in reception class, hopefully babies in the future will possibly get a vaccine to stop it. Hopefully the genetics will give you an answers , but I think even some people aren't given an answer. We didn't go for any other tests, hopefully others who've gone through genome sequencing will be able to offer advice if you went down this route.
Sometimes I wish we'd had parental blood tests done, but hubby didn't want to.
At the moment stay safe and keep away from as many people as possible, so much going around.

@Redstar2015hiya, I was wondering if you are still around, and how things ended up for your son? We are going through the same thing with our daughter - she was flagged for having facial features of ds when born (However, I am asian, so they have stated it could just be asian features...). The QF-PCR has come back negative but we are awaiting microarray results.

@JanetRobertaSnakehole , I am, yes! That's a difficult one to answer, because we aren't discharged from genetics yet and probably won't be for some time. On the bright side, we did get the results of the whole genome sequencing and all the other tests. Every single thing came up normal. My son has developed well and a lot of things we were scared about didn't come to pass (e.g. he's walking, talking, etc). He has had quite a bumpy ride with his health thoughmainly respiratory relatedand we spent a lot of time in hospital with him last winter. That said, I'd say overall we are in a good place. I'm still scared as hell about seeing the geneticist for our yearly review. I dread them saying something new that will put us back on the roller coaster ride of tests and bring up uncertainty again. However, I try best as I can to focus on the present and the special moments we get to share as a family. That's really all you can do.

The testing is horrible and it's the worst when your little one is younger because there are so many unknowns. I went to counseling for awhile to help me deal with it all, and that really helped in particular with strategies for not letting fear/worry take over.

I hope you and your family are doing okay. You are welcome to ask other questions and I'll try to answer if I can.