Echogenic Focus + High HCG MoM

[Sammi427]

Hi <3 i'm currently 29 weeks and just got a call from my midwife that our high risk doctor reviewed my anatomy ultrasound and found an echogenic focus on my baby girls heart. she said it could be nothing - or could be a soft marker for Down Syndrome. I had first and second trimester screening done that came back 1 in 7800 chance for down syndrome, which i thought was good until i took a microscope to my numbers which were as follows:

Im located in the US by the way, and 29 years old.

First trimester results, taken at 12weeks 4 Days
NT: 1.7mm
CRL: 62mm
Nuchal Trans: 0.90 MoM
PAPP A: 0.49 MoM
hCG: 1.0MoM

Second Trimester Results, taken at 16 weeks 4 days
NT and PAPP-A were the same
AFP 1.53 MoM
HCG went up to 2.08 MoM
UE3 0.8 MoM
Inhibin 1.83 MoM

after researching these numbers im really not sure how my risk factor is that low. everything ive read has said low PAPP and high HCG is DS linked. none of my doctors have even mentioned these numbers to me and No further genetic testing has been offered. I have a level 2 ultrasound scheduled for 2 weeks to check on the echogenic focus. Being 29 weeks already i am so terrified.

I'm sorry you're going through this worry.
Your HCG from the first trimester screening was within the normal range so that's probably why it wasn't flagged as a risk factor for DS. PAPP-A by US standards is only ever so slightly under (I think 0.5 is considered normal?). Here in the UK anything under 0.4 is considered low.

Can you ask your doctor to explain the results to you? Can you request a NIPT or get the Harmony test?

I'm keeping my fingers crossed for you that the ultrasound in 2 weeks' time shows no issues. x

0.49 isn't low papp-a. Anything 0.39 or below is usually considered low which is why they haven't mentioned it, put you on asprin or altered your risk factor. Not sure on the other results

I plan on asking about further testing after ultrasound! I'm just a little concerned about the HCG rising to 2.0 after the first result was normal. Thanks for your thoughts and input <3