Corneila De Lang Syndrome

[Tink1o5]

My brother had this syndrome. He recently passed away at age 20. I know that it came from my fathers side of the family. I was wondering how likely it will be for me to have a child with this syndrome??

 

[Tegans Mama]

Seeing as you are TTC, you really should have asked a doctor to do some genetic testing and see for you.

 

[Tink1o5]

can they test before you get pregnant? I thought they could only do a test like that after you are pregnant....

 

[JASMAK]

You can get genetic testing if there is something specific in your immediate family. I would get tested first, or at least have a chat about the "chances"...that is, if you want to.

 

[Tink1o5]

So would i talk to my OB about it then ?

 

[Emmea12uk]

You GP should give you all the answers you need. It is always worth checking for things if you are ttc.

 

[Tegans Mama]

Yeah it is worth asking, if it genetic, they will more than likely have a test for it. Good luck.

 

[freckleonear]

Sorry for barging into this section, but Corneila De Lang Syndrome is something I studied at university so I might be able to help a bit.

It's rare for this CdLs to occur more than once in the same family, as the gene responsible is a dominant gene (so it can't be inherited unless the parent has the disorder, in which case there is a 50% chance). The majority of cases are caused by spontaneous mutations so a familial history of the syndrome doesn't affect the likelihood of having an affected child.

The University of Chicago offers genetic testing for the syndrome, but that will only be able to tell whether you suffer from the sydrome or not (and I assume you don't).

Detailed ultrasound scanning at 8, 18 and 30 weeks is the best way to detect CdLs. Prenatal genetic testing might also be a possibility.

Basically the good news is that you're very unlikely to have a child with CdLs (about the same chance as anyone without a family history of it) , the bad news is that you can't test for it before getting pregnant.

Have a chat with your GP, I'm sure they'll be able to explain it all for you.

 

[Tink1o5]

wow freckle thanks so much for that info im glad you studied it. that takes a lot of worry off of me. i really appreciate the info.