Hi,
Our son was diagnosed at 20 week US w/ LCDH. I had amnio done and array came back negative.
We also had extensive genetic testing prior to becoming pregnant (and have 2 beautiful healthy sons).
And, I also had the DNA blood test done at 12 weeks, again, all negative.

We realize there aren't tests for some of the syndromes, but, we are really worried. They ultrasounds I get each week al seem to indicate something different. One said no globes present, one said hypotelorism, one said only one globe present. globes lack sonolucency, lenses are seen but appear displaced superiorly.

Has anyone else come with these issues? We had one ultrasound that had a 3d picture that looked like the left eye was totally not there, and you could see an indent. Then we had 4 D pictures done (we paid to go to a place that does this, but isn't the doctor) and it looked much more normal.

Mostly, in the pictures it looks like the baby is squinting. We are being told we have to wait til the baby is born but I would like to be prepared to be looking for other issues, not just the CDH.

Thanks for responding,
Katharine