Genetic testing - confused and concerned

[closephine85]

I'm not too sure whether this posts fits in here or infertility but my main priority is the health of my existing child so I have plumped for this board...

My husband and I have been ttc a second child for 3 years. At the same time, our 5 year old has been back and forth between dietician and paediatrician due to low weight (he has gradually dropped down the centiles from the 15th at birth and is now under the 0 centile). About 6 months ago he had some blood tests, one of which was supposed to be chromosome testing - at the time I mentioned our struggle to conceive and asked if it could be linked. I was told yes, it is possible. Anyway, I was told I would only hear back if there was a problem. I never heard anything back in relation to the chromosome tests (one test came back as having low iron which we have solved with supplements), assumed all must be fine in that respect. Big relief.

Fast forward to last week and I had an appointment at the fertility clinic with a view to starting IVF in January. My husband has a low sperm count and poor morphology. All my tests are so far normal. At this appointment the consultant mentioned genetic testing. I then said about my son having had them, not hearing anything back, assuming fine etc. He said, still might be worth exploring for my husband and I.

So I called the pediatrician at the end of last week to ask for more detail on the results. I didn't hear back until today and they've called and said the chromosome test was never done!! Now they want to see us next week to discuss how we proceed.

I am so confused. I've spent the last 4 months relieved that all must be fine with my son and now there's potential it's not, plus there's the possibility that this could be why we are not conceiving.

I don't really know what I'm hoping for from this post, perhaps just talking down and a hand hold?

Has anyone had genetic testing done? What exactly is it looking for? I'm so worried they could find something wrong with my little boy.

[flutterby77]

My son had chromosome testing done because he was very small at birth. I suspect they are looking for something similar in your son due to his dropping weight to below the percentile charts. Does he have any other issues, height, feeding difficulties, blood sugar probs?

[flutterby77]

Just to reassure you, my son is perfectly healthy other than the chromosome issue which affects his growth.

[youcantgoback]

I recommend you ask for some advice from the charity, Child Growth Foundation.
They can help you navigate the route to some better advice for your 5 year old if DC isn't growing as well as you would hope. If you and DH aren't short, then you would expect your DC to be at a higher centile. In the UK medical provision in the field of child growth is unreliable and often relies on parents pushing for evaluation and proper follow up.

[cestlavielife]

What other symptoms does ypur son have?
Was it general chromosomes test looking for mai n things like say 46 xxy extra x or a full microarray looking for small deletions ?
Even if both those clear it does not mean there is not something at a gene level. There are still undiagnosed conditions.
What did they say they were testing for ?
You need to ask whoever ordered the tests and if they weren't done ask what they testing for.

[cestlavielife]

Has he been tested for coeliac?
Hormone tests ? Bone age ?

[cestlavielife]

Also ask paed to refer to specialist growth clinic .