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Mumsnetters aren't necessarily qualified to help if your child is unwell. If you have any serious medical concerns, we would urge you to consult your GP.

How are children tested for chromosomal abnormalities?

(15 Posts)
FlightofhteGiantHardon Thu 11-Sep-08 08:21:12

Is it done by blood tests?

I mean after they are born, not during pregnancy.


Cappuccino Thu 11-Sep-08 08:22:01

blood tests ime

FlightofhteGiantHardon Thu 11-Sep-08 08:23:03

Thankyou Capp - any idea what age? or doesn't it matter?

ChopsTheDuck Thu 11-Sep-08 08:23:14

bloods. Usually quite a lot of blood! But at least it is only one needle.

ChopsTheDuck Thu 11-Sep-08 08:23:59

ds1 was tested at 5, to rule out possible causes of his sn. I should think it can be done at any age though.

Cappuccino Thu 11-Sep-08 08:24:40

flight my dd is tested now and again for things that they think might be wrong

it makes no difference really to her life, it was only really done (when she was 2/3, iirc) because we wanted another baby and wanted to know what the risks were

FlightofhteGiantHardon Thu 11-Sep-08 08:25:08

Thankyou. Will talk to GP - or do I have to go through a HV? I hate our HVs.

FlightofhteGiantHardon Thu 11-Sep-08 08:26:16

I am same about other babies and risks btw. Also handy if we know what the problem is iyswim!

Cappuccino Thu 11-Sep-08 08:36:34

if it is any consolation, we had genetic counselling, and were told everything was fine

we had gorgeous, NT, no problems, wonderful dd2

3 years later I found out that there probably was a genetic abnormality on my side

I thank my lucky fucking stars that I didn't know beforehand. I might have dithered and doddled about and missed the chance of dd1's fantastic sister; at the very least, I would have had a miserable and stressful pregnancy

FlightofhteGiantHardon Thu 11-Sep-08 08:39:14

Thankyou, yes I see what you mean. This is ds2, not sure if will ever have another baby but I want to help him as best I can if there is something up.

I am going to feel stupid walking in there saying 'I think there is something wrong with my baby' though aren't I?

I don't have much to go on. I could just be imagining it but have felt something was not right from when he was a few months old really.

Thanks x

Cappuccino Thu 11-Sep-08 08:43:08

oh hang on, I see, it's not that you already have seen the Child Dev Service?

they won't test him for stuff just off the bat. You need to ask for a referral to Child Development Centre.

tbh a chromosomal diagnosis isn't going to help you. The treatment, if any, that you get if there is something wrong will depend on the symptoms, not the clinical diagnosis

dd1 has a diagnosis but it has no bearing at all on how she is treated. It's just something to write down in a book. For example, she has physiotherapy for spastic muscles. The diagnosis means nothing, how stiff her legs are are the guide.

Go to your HV or GP and explain your concerns to start with.

FlightofhteGiantHardon Thu 11-Sep-08 08:45:51

Ok, thanks I did not know what to do really.

At least it might put my mind at rest. I am prob being silly anyway!

Cappuccino Thu 11-Sep-08 08:47:10

no probs

give me a yell if you need me

FlightofhteGiantHardon Thu 11-Sep-08 08:50:35


kiddiz Thu 11-Sep-08 09:20:42

My Ds1 had chromosme tests in scbu within 2 weeks of birth. They were diagnosing by elimination IYSWIM. We still have no concrete diagnosis and he is now 20. He has the label of arthrogryposis but this is more of a description of his condition rather than a diagnosis. Like Cappuccino says it really doesn't influence his treatment. He would still need physio what ever his label. I think in the early days I was more anxious to get a definitive diagnosis for purely selfish reasons. I wanted reassurance that it was nothing that I had done. I did and still do carry guilt that his problems are my fault.
We had genetic counselling before DS2 was conceived and were given a risk of 1:30. It always puzzled me how they could give a risk factor with any certainty when they don't know what caused DS1's problems.
We went on to have two more children and both are fine.

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