Are serious chromosomal issues always diagnosed at, or before birth?

[ChampyandtheWonderHorse]

I hope this isn't too sensitive a question.

I'm worried that my 4 week old may have downs.

It's nothing more than is appearance, and also he seems different from my other children somehow - it's hard to quantify.

I've looked at a list of physical characteristics I found, and he does not have many of them, but his eyes have a small fold at the inner canthus and they are slanted - also the lower lid is very large. It wasn't so evident when he was tiny but now his face has filled out, I keep just thinking, Oh he looks like a baby with downs. iyswim. But sometimes he doesn't.

I realise he could have this appearance and not have a trisomy. I'm just wondering if there is something definitive that would make it clear, one way or another. And if it is always obvious to the doctors when a child is born.

How can I find out - should I just ask the HV next time I see her? Should I ask the GP to do a blood test? please forgive my ignorance. The odds when we had the quad test came up borderline/low risk at 1/350. I'm 39.

Thankyou

Have no direct experience but know that these things can be missed at birth. There are many chromosomes problems that are not picked up until later when outward markers become more defined. Speak to your HV or do you have 6 week check with GP? If you feel you are getting fobbed off and your concerns not acknowledged then push for referral to pediatrician.

I think if it were me I would say to MW or HV "His eyelids are funny, should I be worried about that?"

My son has downs. It was/is hard to tell. I'm on a Facebook group for parents with Downs and there are a few parents who found out weeks/months after birth. Have you looked for a palmar crease (single line on palm) or a sandal gap (big gap after big toe)?

I would go to the GP and ask for a blood test. There are more than one type of downs syndrome.

Oh and congraulations on the birth of your baby x

I know of a family who have a child with Mosaic Downs syndrome who was diagnosed at 7. N

Thankyou very much for the replies.

I have heard of Mosaic DS but am not sure what it is, will look some more on the internet.

Green, I have an appt for ds's 6-8wk check so will maybe mention it then.

Wips, thankyou so much - he has the same palm pattern as me, more than one crease, but there's a definite gap in his toes.

Other thing is, he suffers an awful lot with his digestion - he's always crying because of it. I know that could be many things but when I read that DS can cause various digestive issues it made me think.

Neither of my others were ever this bad and I'd already been looking up Pyloric Stenosis and all sorts of things because of his problems.

I don't know - I am afraid they will just say, don't be silly, he is fine, but it is worth asking.
Thanks again x

The other thing is being sort if "floppy" due to low muscle tone. The paed we saw sort of flopped DS about to confirm things.

Not always and some more complex (but not necessarily more severe) are not foubd until much later

There is a group called SWAN (syndrome s without a name) who might be avle to help, but do trust your instincts. It can take months and months for tests to come back so getting the ball rolling wouldn't be a bad thibg if you are worried.

Thankyou, it is so hard to know what is 'normal' even though I have other kids - I can't remember how they were when they were this small.

I guess if some children don't present with the typical symptoms, immediately then it must be something doctors can miss too. I'll speak to the HV and see whether she thinks it is worth getting a referral.

I could not imagine having a childwith any sort of unusual attibutes before I had him, but now, all I know is he is mine and I love him and if it should be this way, if he does have something amiss, then so be it - it doesn't change my feelings towards him. I am glad I have him, that's all.

Thanks again for your advice.

Ds has a genetic condition (not Downs) which was not noticed at birth, he was 6 months when we realised there was a problem, and he is still undergoing testing. One of the things the drs looked at was mosaic downs, which is where only certain cells in the body have the extra chromosome. It can be missed with a blood tests (if the blood cells aren't affected), but picked up in a skin or muscle biopsy.

There are other genetic disorders where children have epicanthic folds, so if you are referred they may do some more generalised genetic tests.

The sn board is full of people who are very lovely and supportive, and a lot of us have been there from the first worries and doubts. There will always be someone to hold your hand or answer questions.

And lastly, congratulations on your little boy.

Congratulations on your baby! Mention your concerns at the 6 week check. All may be fine but there are rare chromosome problems that may not be picked up at birth. Do not be concerned about looking silly. A GP that makes you feel daft is a bad GP.

There are support groups for families of children with rare problems such as 'Contact a Family.

DD1 has a likely chromosomal issue. I don't know if it would fit your criteria of 'serious' because she can walk, talk, eat, etc., but it is significant enough that she goes to Special School. Her best friend has Downs Syndrome.

At birth, one of the midwives thought 'she looked like she had Downs'. This was dismissed by the senior who was called to examine her. Her SN weren't actually picked up (despite my concerns) until she was 2 years 9 months.

She has Speech and Language delays and articulation difficulties, gross motor and fine motor delays, slightly low tone in her musculature, odd skin which marks incredibly easily (for example, just wearing her wellies today, has left a wide, shiny, reddening on each leg) and is quite 'lax'. She seems to have poor circulation. She also has moderate learning difficulties and sensory issues.

Don't be dismissed. Just make a note of your concerns. Note any silly thing which you think 'hmm...don't remember that from having children before...'.

Also, treasure these days. Regardless of the future, right now your DS is a squishy small person, which is exactly what all babies his age are!

Congratulations on your baby!

What you have to consider, is that there are loads of chromosomal problems that babies can have which aren't Downs syndrome. Downs (perhaps because it's got a name????) is the one people tend to focus on. I do think many babies can look a little like Downs syndrome, particularly when tired.

My dd2 has only one hand. This is unknown why this sometimes happens. But we know another child who has part of each limb missing (from end of digits, to just above the elbow) I was told (by parents) this was a partial chromosomal deletion.

It depends on which chromosome is effected (deleted or added) as to how a child is effected, and some of which are so rare there may only be one or two known people with it. So there isn't really even "an expert" in it.

I would go and express concerns, to GP, HV or even midwife-depends perhaps which you feel will take you seriously and not wipe away your feelings.
Our GP says he will always listen to mother's intuition-and he says it's proved right when he has seen nothing wrong may times.

As he gets older it will become apparent if he has a condition or not...does he feed well etc ?
Ther is the basic chromosome test which can look for downs and other trismoies, dletions etc.
But there is also more detailed test cgh array which can find microdeletions or duplications such as my son has .

It will be a waiting game really, they might not test now unless there are issues with say feeding etc which could indicate a global problem

Congratulations on your new baby. If you look at his individual features can you compare them to other family members? Sometime a child can have characteristics of a syndrome but if you look at other family members you can see it is just the way they are if you know what i mean. But yes, do raise it with your Gp. Hope all is ok.