I was wondering how many women who had the triple screen when pregnant were given high odds for SLOS (Smith-Lemley-Opitz Syndrome)?

I am pregnant with my third son, and I just had an amnio to rule out SLOS (results not back yet). Because my estriol was so low while my HCG and AFP were normal, they gave me odds of 1/10 for SLOS.

However, the genetic counselor told us it might very well be X linked ichthyosis, which I had never heard of.

Now that I've been researching it, however, I can pretty much say for sure that my first son, who is 3 and a half, has it.

We've always just been told it's "dry skin" or "Eczema", because it isn't very severe, except in winter, or if we forget to put lotion on for a couple of days in a row. It does look sort of "dirty", with brown scales around his ankles, wrists, sometimes just around the ears. His scalp is a trainwreck, but the hair covers all of those big scales.

What's interesting is that no doctors have pointed out the possibility of X linked, although judging from the pictures posted here, he has a classic case.

I took the triple screen with this son as well, but the results came back normal.

Do others of you have similar experiences? Did you have a case where your child has had X linked and your triple screen/AFP came back normal?

After seeing these photos, I feel it's unlikely that this pregnancy is SLOS- it seems X linked is more likely than anything, but it also kind of worries me that my AFP screening came back normal with my first son despite obvious his obvious ichthyosis.

(BTW- my second son, who is 2, had a clear AFP screening and shows no signs of X linked).

I'd be grateful for whatever rays of hope you can give a worried mom waiting on pins and needles for her amnio results!!!

Thanks.