Hi Ladies, i am currently in the awful waiting and not knowing period between finding out I have a high chromosomal abnormality risk and getting an amnio to rule out or confirm.
My Ultrasound was fine NT: 1.95mm, nasal bone present, heart appears normal.
My blood work is were things start to look bad;
Free beta Hcg: 3.0390 MoM (3 x normal)
PAPP-A: 0.3275 (well below healthy range)
I am 33, white, non smoker, 58kg
My doctor called me in urgently to inform me my adjusted risk for Down's Syndrome was calculated as 1: 28
I couldn't sleep the night I found out. It is still the first thing I think about in the morning and the last thing on my mind at night. I am feeling more positive now when I think of the ratio as a percentage. My baby is 96.4% likely to be normal and 3.6% chance of having Down's Syndrome. Here is a link for those who would like to calculate a percentage
I would appreciate if anyone could help me with these questions and share their similar experiences;
-Anyone had a risk ratio of around 1:28 and what was the outcome?
-What is the difference between Free beta Hcg and the Hcg they measure in early pregnancy? I always thought a high HcG level indicated a healthy baby.
-Has anyone had a confirmed DS diagnosis with only poor blood results and no ultrasound markers?
-Why is the presence of a nasal bone not factored into your risk ratio?
-Is a small biparietal diameter a down's syndrome marker? The ultrasound showed a crown rump length equivalent to 13w6d but the BPD was 12w6d. The ultrasound tech did not mention it was a problem. I have read that it is okay as long as the head circumference is normal but my results do not show this parameter.
-Any experiences of problems eg. placental issues with high free beta Hcg and low PAPP-A? This will be my next concern if the amino comes back negative. My baby was however measuring 4day larger at 14 wks than at the 8 week dating scan.
Thanks for reading. My sympathy for those in a similar situation.