During my 18th week thorough fetal anatomy ultrasound, everything checked out fine except one cpc (chronic plexus cysts) was found measuring 9.8 mm. Due to not being able to see my baby's facial features (his hand kept blocking it), plus the cyst issue, they sent me to a specialist for a level II ultrasound.
At the specialist, both the technician and the Dr could no longer see the cyst, but they found an EIF (Echogenic intracardiac focus). My quad screen came back as down syndrome 1:9700, Spina bifida 1:12000，and no increased risk for trisomy 18, all negative results within normal range. The Dr didn't show much concern about the EIF or the absent cyst, but he did mention the cell free DNA test which is 99% accurate.
My questions are:
1. I know the CPC and EIF are associated with different types of chromosome abnormalities, CPC is related to trisomy 18, and EIF is related to down syndrome which is trisomy 21. But when they are both present, are they considered additional markers for each other, therefore increasing the baby's risk of developing chromosome abnormalities?
2. what is the percentage of the false result of the cell free DNA test?
3. what chromosome abnormalities does this test check?

Showergel, we have no doctors on this site, but I sent your question to a friend that is a doctor. It may take some time to get a response from him, he's very busy. I've subscribed to this thread, and if he has an answer I'll post it. It may take a few days, so please check back often.

Showergel, we have no doctors on this site, but I sent your question to a friend that is a doctor. It may take some time to get a response from him, he's very busy. I've subscribed to this thread, and if he has an answer I'll post it. It may take a few days, so please check back often.

Thank you for forwarding my question on, I appreciate it~

Here's the response I got.

1. No, they are different, but her numbers are a bit higher than I want them to be
2. Unsure, that is something she'd have to research. I know it's pretty low.
3. It checks for trisomies... so down (21), edward (18), and patau (13). Its detection is pretty good for down syndrome (99%), edward (98%) but kind of weak for patau (65%)

Hope this helps at least lead you in the right direction.

Thanks a lot for the quick response, it definitely helped me relax a bit. But I am a little puzzled that he said my numbers are a bit higher than he wants them to be. Which numbers are he referring to? I assume the numbers refer to the down syndrome ratios 1:9700, and spina bifida ratios of 1:12000. However, the quad screen test report indicated that the average down syndrome ratio for my age (30) is 1:595 and that my result of 1:9700 was equivalent to a woman under the age of 20, so my numbers are considered significantly better than normal. Also my spina bifida ratio of 1:12000, is good compared to the average total neural tube defect ratio of 1:6000 for 30 year olds.
Or by numbers does he mean the chances for chromosomal abnormalities (trisomy 18 & 21 is higher)?

Thanks again for your help!

Thanks a lot for the quick response, it definitely helped me relax a bit. But I am a little puzzled that he said my numbers are a bit higher than he wants them to be. Which numbers are he referring to? I assume the numbers refer to the down syndrome ratios 1:9700, and spina bifida ratios of 1:12000. However, the quad screen test report indicated that the average down syndrome ratio for my age (30) is 1:595 and that my result of 1:9700 was equivalent to a woman under the age of 20, so my numbers are considered significantly better than normal. Also my spina bifida ratio of 1:12000, is good compared to the average total neural tube defect ratio of 1:6000 for 30 year olds.
Or by numbers does he mean the chances for chromosomal abnormalities (trisomy 18 & 21 is higher)?

Thanks again for your help!!

I'd have to ask him exactly what he meant. When I talked to him yesterday he only had a few minutes, and told me he would be out of contact for the next 2 weeks. I'm not sure if you want to wait that long for a reply, and sadly I can't give you one at all, I know nothing about this sort of thing.

Your best bet would be to talk to our OBGYN about this. If you're okay waiting 2 weeks, write a post on this thread in 2 weeks to remind me, and I'll forward your questions on to him. :)