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?


We plan on trying soon...

 

[Luvspnk31]

I think u need to decide if it will matter in the long run. I'm not asking you to share your decision, just that if it's not going to matter, then why put him through that? I don't know anything about the genetic side, but I do know that the reason they say age =increased risk is because less women have babies over the age of 35.
I understand the need to feel prepared, but we always need to respect the feelings and wishes of others whom it might impact. Wish u the best of luck.

 

[Kezzybear]

I would wait until you get pregnant and then have the verifi or harmony blood tests along with nuchal translucency tests. Or have an amniocentesis to know for sure.

Just remember that even if your partner is a carrier, doesn't mean your bub will have it. Unfortunately genetics can sometimes be down to chance.

Good luck xxx

 

[ginny83]

If your partner is a carrier I think it might mean he would have a balanced translocation which you can get tested for. When I was being investigated for a cause of my miscarriages this was one of the things myself and my husband were tested for. It means you can have the right amount of chromosomes but in the wrong order, so when they match up with the other person to make the embryo you can have some sets that have too many/too few etc.

 

[_jellybean_]

I wouldn't ask his brother to be tested if it's going to upset the family. I think I'd probably just get the regular ds tests that they give during pregnancy. Have you spoken to your doctor about your concerns? Maybe s/he will have some suggestions.

 

[Mild Mango]

You can always opt to meet with a genetic counselor prior to getting pregnant. I've never done it, but apparently it's not uncommon for couples to do. A genetic counselor would be able to tell you exactly what tests you can get and can explain what your child's risks are. I think that would be a HUGE help in your situation.

Another option would be to go ahead and try, then get a Panorama/Harmony/MaterniT21 test in the first trimester. That way, if your child has Downs, you can decide whether to continue with the pregnancy.

But also, if your husband and/or his family members test positive for a hereditary genetic condition, what effect would that have on your decision to try for kids? If you would try to have kids anyway, then maybe all that testing isn't totally necessary.