Genetic Counseling

Based on what my high risk OB saw on the ultrasound, he suggested that Mike and I meet with a genetic counselor to discuss what possible ramifications of an issue may be. I informed my high risk OB that we had no intentions of terminating the pregnancy no matter what results we found and he said he understood but a genetic counselor could still help us. We scheduled the appointment for about a week after the MRI and found ourselves sitting in a comfortable office. Zachary had toys to play with on the floor while we sat on a couch discussing what could be.

The genetic counselor was the first person to actually confirm to us that our son had a hydrocephalus diagnosis. The official measurements from the fetal MRI showed the ventricles measuring in "official hydrocephaly diagnosis range." The ventricles were measuring at approximately 14 millimeters. Anything above 12 is considered hydrocephalus. What was more concerning than the fact that the ventricles were now measuring in hydrocephalus range is that the rate of growth seemed fairly high. We had initially had measurements of 9.5 mm at Dr. Amnio's office, a month later had measurements at 10 mm and now two weeks later on MRI of 14 mm.

I started crying when I heard the official diagnosis. You're told not to Google. You're told don't look up the worst case scenarios. You're told that each case is a different story. You Google anyway. You research every prognosis from grim to miraculous. You look up support in your community. You look up previous cases. I had never even heard of hydrocephalus until our son was diagnosed with it. I had no clue (though it is among one of the most frequently diagnosed disorders prenatally) that it even existed. And now, I had to learn. I owed it to my child to be armed with the most accurate and beneficial information available.

The genetic counselor touched on the idea of completing an amniocentesis to determine if the cause of the hydrocephalus was genetic, but when she found out that we would not consider termination of the pregnancy, she advised against the amio. She said that the risk would outweigh anything we could learn - the information the amnio would show would be available via blood test after birth.

We left the office that day in a bit of shock, armed with information from CHOP (Children's Hospital of Philadelphia) on hydrocephalus and an appointment for a fetal echocardiogram. Since hydrocephalus can be genetic, the high risk OB wanted to complete the fetal echo just to be sure that there were no major heart defects that we needed to be aware of.