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.

In uk the second test is not done unless you miss the first.

your first set of results look very good, only the Papp-a is just under the normal limit. It’s considered ok if >0.5. Really they all look good. I can’t comment on the second test, as I only know for the first one, between week 10-14 the best results are around 1 mom.

there is a non invasive blood test that tells you if they see any genetic abnormality for the baby. It’s called nipt/harmony. You could look it up and get it done before the scan. While it’s not a diagnosis (only cvs and amnio are) it’s very accurate. It will tell you with accuracy like 1:10000 low risk for DS, edwards and Patau.