Did anyone's risks go up after NT scan/blood work?

I had my NT scan on Friday. The sono went well. Based on my blood work, the risk of Trisomy 13/18 went from 1/700+ (based on age) to 1/437. My doctor said not to be concerned, but I can't help it. With my last pregnancy, my risks were 1/10,000 for Trisomy 13/18.

Since my odds went up, she offered to send me to a genetic counselor. I have a consultation this Friday. I'm also having a Level II done at a place that has more detailed imaging equipment. Right now, I decided against CVS testing because the odds of miscarriage (1/100) are significantly higher than the odds for Trisomy 13/18.

Has anyone been through something similar? What can I expect from a genetic counselor consultation? If the doctor was concerned about Trisomy 13/18, what did they look for at the Level II ultrasound? Did you opt for more invasive testing?

Re: Did anyone's risks go up after NT scan/blood work?

My odds of Trisomy 13/18 were higher than yours... something like 1/200. VERY high for my age. Your chances are part of the "negative screen" range.

I did repeat blood work testing at 16 weeks. To wait for that was one of the worst parts of my LIFE. But... the repeat results (same lab) shot my odds down to something like 1/60,000.

My Ob suggested avoiding a CVS unless I "had" to know immediately & we were planning on doing an amnio if the repeat bloodwork came back the same odds or higher.

With the ultrasound, they look at the face & heart for anomalies that are associated with the syndromes. Thank god no one say my baby's overlapping toes (he's totally normal, but it can be associated).

Re: Did anyone's risks go up after NT scan/blood work?

Thank you!

Re: Did anyone's risks go up after NT scan/blood work?

My NT overall results came back 1 in 250, and with my previous pregnancy was 1 in 10,000. I opted for CVS testing because I didn't like how my odds increased even though it was considered normal for my age.

I scheduled a CVS, but before they do the procedure, you meet with a genetic counselor. After reviewing all the info, we determined a CVS was for me and I am so happy I did it. FYI, the risks for miscarriage go down when you go to a facility that has more experience doing them-- I HIGHLY recommend Dr. Joanna Stone at Mt Sinai. I also really liked the genetic counselor there, Julie McGlynn.

Re: Did anyone's risks go up after NT scan/blood work?

At my 12 week NT scan, the sono showed that the neck thickness had increased so much so, that they were 95% sure it was a marker for something (Down's, heart defect, etc.). My OB didn't even waste time drawing blood to get it tested. He suggested a CVS test at that point, and after weighing all the factors, decided I needed to do do (my NT neck thickness was 4.7 and they say anything over 3.5 was cause for concern).

I know the risks are slightly higher for a CVS test over an amnio (because it is done earlier in the pregnancy), however, the risk is only something like 0.5% higher. anyway, I had it done at a highly skilled perinatal place by a doctor with a proven record. The most agonizing part was the wait. however, when we found out the chromosomal analysis showed everything to be normal, we were thrilled (I could never have waited anothe r6+ weeks for the amnio).

I still went on to have many other tests, including an echocardiogram and the APF blood work at 16 weeks. So far, everything came back normal, so the increased neck thickness and what it means is still a mystery.