Down syndrome test?

[Pancha67]

Hello ladies, my partner has a brother and uncle with Down's syndrome. We have done some research into the genetic element of Down's syndrome.

There are two types, the by chance where there is an extra 21st chromosome (this happens in the cell forming process or where there is a parent that has a slightly altered 21st making them a carier - this has a chance of being passes onto a child causing an error in the 21st chromosome. Both types chances are increased by age.

The next options are to risk that my partner is a carier (likelihood is lots of people could carry lots of altered genes that do not pass along) or have the genetics of brother with DS tested but this is likely to cause great upset to the paternal family.

Thoughts please?

 

[erinlynnak]

I would get tested. I plan on doing genetic testing because on my husbands side his brother has ausbergers/autism, ADHD, and terets. I personally will not be able to handle a special needs child. My mother in law does fantastic, but it's not for me.

 

[Curligurl]

How wil the results affect your decision to have a baby? Will you still TTC or look into adoption? I wouldn't feel comfortable asking to get the brother tested...like you said too much potential drama. Also you could talk to a genetic counselor and they can help you make a decision

 

[Cattia]

I would get tested. I plan on doing genetic testing because on my husbands side his brother has ausbergers/autism, ADHD, and terets. I personally will not be able to handle a special needs child. My mother in law does fantastic, but it's not for me.

I don't think there is any way of testing genetically for these developmental issues in the same way as there is downs?

 

[Kess]

Personally, I didn't and wouldn't do any testing in utero for Downs as it would have made no difference if the nuchal fold test had indicated a higher risk for Downs, we wouldn't do the amnio due to the risk of the test causing a miscarriage. And anyway, I'd never abort, whatever the test said, so the test would only be of value in giving me time to read up and prepare myself.

In your situation, I'd also ask what difference the test would make. Would you decide not to have biological children if your partner is a carrier? If you would go ahead anyway, then the test isn't worth upsetting family over.

A genetic counsellor could be a good idea for you, to talk you through the actual risks. I think only 1% of all Downs cases are hereditary, though, so there's probably a good chance it's just random having two relatives with it - older mothers is the only risk factor and tbh age of having children does tend to run in families somewhat.

I would get tested. I plan on doing genetic testing because on my husbands side his brother has ausbergers/autism, ADHD, and terets. I personally will not be able to handle a special needs child. My mother in law does fantastic, but it's not for me.

I don't think there is any way of testing genetically for these developmental issues in the same way as there is downs?

I agree with this, there's no way to test in utero for Aspergers, autism, ADHD or Tourettes.