Hiya,

I couldn't find any links for this. Are there any tests that can be done in the womb for LI?

Cheers
Vicky
xx

Thanks for your response. [img]http://www.ichthyosis.com/ubb/smile.gif[/img]

Hmm - they say they haven't done one and I don't think they intend to. I can think of lots of reasons why they might not:

- too many places to look
- too expensive
- not standard in UK
- wouldn't tell us the severity so probably not changing any pregnancy decisions

I've asked them to tell me why they won't do it if they're not going to.

Vicky
xx

From what I've read in the FIRST quarterly magazine, the TGM-1 gene has been found to not be the only gene causing lamellar. They have now classified lamellar and CIE as a spectrum (and given them a communal name that I can't remember), and have found that some people that have the condition don't have mutations on the TGM-1 gene, but on other genes that they're working on identifying. So it sounds like the current tests would be of very limited assistance.

When my son was born with LI, he was the first in the family, so we had his gene mapping done "to confirm the diagnosis of LI." So insurance covered it. So we knew for him it was the TGM-1 gene mutation he had. When I got pregnant with my daughter two years later, we did the amnio and knew what to look for. I am glad we did it, as my daughter does have LI and we knew in time to prepare the hospital staff and our own hearts and minds.

Hi Vicky,

Interesting - just spoke with my physician about this. He told me that if you know exactly which type you have they can check if the baby has it too - at least in some cases. But the test is risky for the baby. He also asked me: well, if you find out the baby has the disorder would you terminate the pregnancy? If not, it makes no sense to go through the trouble of figuring out which type exactly I have, putting the baby at risk and spend all that time and money and nerves on the whole process...

Hope this helps,
Sofie

I have a 3 year old son, and when my wife was pregnant I was very worried that he would have LI too. The doctor said we could see a gene specialist, but he never mentioned anything that could test for it in the womb. Sorry I could not be any more help.

(BTW:my son is very healthy with beautiful skin)

Misfit, in your case, your children could only be affected if your wife was a carrier of the mutation. The odds of her being a carrier are 1 in 250, and then you have a 1 in 2 chance of having an affected child. So being affected and randomly marrying someone affected means you have about a 1 in 500 chance of having an affected child. There's no point to testing your kids. They are all known carriers. When it comes time to have grandchildren, they will have a 1 in 1000 chance of passing it on (1/500 times 1/2).

In your situation, testing your kids in utero would have done nothing. Better to test your wife for carrier status (assuming your gene has been determined) before pregnancy, as it is a simple blood/cheek swab test. Even if she were a carrier, you'd have 1/4 odds of a child being affected.

That was the good news we found out later, my wife is NOT a carrier so no worries for now.

Thanks for the info I did not know the grandchildren odds.