UPDATE - Markers on ultrasounds - need advice

[oneontheway]

So today I had my 20 week anatomy scan. The tech said that the heart had some thickening that the baby will outgrow as the heart grows but it does give me 1 marker which indicates a higher chance of down syndrome. Has anyone had this? She also said there is a blood test that can rule it out but it is not covered by insurance. I;m sort of scared to have the amnio. I did have the earlier testing that she said ruled out age related down syndrome.. I didn't realize there was a difference.
Any advice?

Update:
I just got my results back from the Harmony test I took and my risk is low - 1 in 10,000 so I'm breathing a big sigh of relief!

[georgiegirl]

Do you have an HMO or PPO? Supposedly the MaterniT21 is covered by PPO insurance except a $235 co-pay (or so I've been told.). I'm having it done in 2 weeks, and while doing research on the test, it seems like a lot of moms who had soft markers on the 20 week ultrasound had it done and it was covered by insurance (except the $235.). I'd definitely pursue that option with your insurance company and the OB billing people first, since its non-invasive. I can see why you'd be reluctant to have an amnio. You would think insurance would cover the blood test instead of the amnio since its cheaper and safer.

I'm sorry you are going through this. How stressful.

[oneontheway]

We have an HMO. The tech said its usually $1200 but is reduced to $400. I'm going to speak with a genetic counselor to see what they say. My susquential screening was negative so I don't quite understand what that means now that there is a marker.
Did you have the susquential screen? You're right you'd think they would cover the blood test first. Oh well, I'm sure they will eventually.
Good luck to you!

[AngB]

The bloodwork (Materniti21, or something like that, there are 2 different names for it I think) is supposed to be very, very accurate. I think I would do that, even out of pocket, over an amnio especially for only one marker. I know the bloodwork is fairly new, can it be done later? Will they let you go for a follow up ultrasound and then maybe you can decide?

You can always do an amnio later...I had one at 36 weeks for lung maturity with DS1, my friend has a friend who had 3 major markers (something with the heart, kidneys, and femurs)..she had an amnio around 28 weeks which confirmed her baby had down syndrome. (She was really glad she did the amnio and found out in advance because she was able to spend the rest of her pregnancy finding all kinds of resources, support groups, etc.)

You mention the tech said all of this. Were you able to talk to a doctor at all? I would definitely talk to a doctor first, before deciding anything.

[mommytoC]

Was it an "echogenic intracardiac focus"?

If so, they're very common (i.e., seen in 3-5% of pregnancies), and in an otherwise healthy appearing baby, considered a normal variant:
http://mydoctor.kaiserpermanente.org/ncal/Images/GEN_US%20EIF%20handout_tcm63-9941.pdf

I agree with PPs, I'd speak with your doctor before making any decisions...

[Snow mom]

Things like the sequential screen are "screens" rather than tests. They should give you odds. Anything above 1:200 is considered "positive" and below is considered negative, but honestly if the odds are 1:1000 that means 1 in 1000 people with that result will have a positive baby. I don't say that to freak you out, just to explain how those things work. I had a "positive" NT result and elected to do the Maternit21. This is also technically a screen but the false positive rate is much lower than many of the other screens (and the false negative rate is really small). At least at the time they had a deal where if you have PPO you were guaranteed that your OOP would be no more than $235 for the test. Most insurances will reject the claim and then they bill you $235. My insurance actually covered it. At the time it was extremely worth even the $235 to me. You are further along of course so it's worth thinking about what you want the information for. And definitely talk to the doctor first. EIF is a soft marker and pretty common in babies with typical chromosome number so try not to get too worried (I know that's easier said than done.)

[jjordan]

Markers show up all the time in ultrasounds for chromosomally normal babies.

I agree that you should think about what you would do with the information if you found out that your baby did have Down's. If it wouldn't ultimately change the way you would act, then is it worth it to you to spend $400 just to know, one way or the other? It definitely wouldn't be worth it to me, nor would I have an amnio because of the (small) risk involved.

Hope that things work out for you!

[ArizonaGirl]

My DD had an EIF and we too had the 12-week nuchal translucency testing that showed negative for DS, but I was also worried about the soft-marker for DS.

The Dr. explained to me that the EIF was very common (of his 4 children all 4 had it and none of them have DS). He wasn't at all worried because the 12-week screen was neg.

Sorry this is looming over you and I HTH

[buddyleebaby]

DD1 had an echogenic focus (looked like a little white spot on the heart.) The Doctor said it could be a "soft" marker for downs but was on its own of very little concern and no further testing was recommended. She outgrew it. She is a perfectly healthy 7 year old who wants to be a Viking.

[oneontheway]

Thank you all so much for your input. I wish I read these posts before I went to bed last night because they do make me feel better about the situation. I do think it is a echogenic focus. The nurse is suppose to call me today to put me in touch with a genetic couselor for more information. The only reason I would want to know is to be prepared and probably more importantly not to worry for the next 5 mo. I don't think I would elect an amnio because of the risks.
Thanks again.

[heatherlynn]

My son had this and he's fine. :hug:

[MolieMuts]

Was it an "echogenic intracardiac focus"?

If so, they're very common (i.e., seen in 3-5% of pregnancies), and in an otherwise healthy appearing baby, considered a normal variant:
http://mydoctor.kaiserpermanente.org/ncal/Images/GEN_US%20EIF%20handout_tcm63-9941.pdf

I agree with PPs, I'd speak with your doctor before making any decisions...

:yeahthat:

My son had this. My doctor called me at home after the 20 week check and didn't explain it well at all and set up an appointment with a specialist to have it checked again. I was worried sick for two weeks! A relative of mine works at an OB/GYN office and told me that it was very common and not to worry. At the second scan, the tech even told me it was OK before the doctor came in and confirmed that. After DS2 was born, the nurse thought she heard a murmur, so we took him to the cardiologist at 4 days old and 6 mos. and now we know he has a perfectly healthy heart.

[AnnieW625]

Was it an "echogenic intracardiac focus"?

If so, they're very common (i.e., seen in 3-5% of pregnancies), and in an otherwise healthy appearing baby, considered a normal variant:
http://mydoctor.kaiserpermanente.org/ncal/Images/GEN_US%20EIF%20handout_tcm63-9941.pdf

I agree with PPs, I'd speak with your doctor before making any decisions...

:yeahthat: baby #2 had one of these and it was a marker for Trisomy 18, which baby #2 did have, but my OB at the time passed it off at nothing and then waited 4 weeks to schedule me to have an echo cardiogram. I had an amnio a few days after that. If I were you for your own piece of mind I would do the blood work.

:hug:

[oneontheway]

I spoke to the nurse from the ob's office and they gave me a number to the Fetal Medicine Specialist. You leave a message and they call you back in 1-2 days! Which sort of stinks. I know my risk is somewhat low (although I'm 38 so the marker doubles my odds) and the test could be expensive but it is going to sit in the back of my head and drive me crazy.

Has anyone had the MaterniT21 or Harmony test and have it covered at all by an HMO?

Annie - sorry to hear about baby #2 :( Thank you for sharing.

[lizzywednesday]

I spoke to the nurse from the ob's office and they gave me a number to the Fetal Medicine Specialist. You leave a message and they call you back in 1-2 days! Which sort of stinks. I know my risk is somewhat low (although I'm 38 so the marker doubles my odds) and the test could be expensive but it is going to sit in the back of my head and drive me crazy.

....

Hi!

My daughter's heart defect was diagnosed at the 20-week full-anatomy scan. It's fairly common in developmentally normal kids, we are told now.

Hers is pulmonary valve/pulmonic stenosis, which means the pulmonary valve leading from her heart to her lungs is malformed & that causes a bulge in one of the vessels to the lungs because the blood is shooting through the small opening is causing the vessel to widen.

It also causes hypertrophy of the heart muscle, as the heart is working harder to pump blood through the smaller opening, so, much like a bodybuilder trying to build muscle, the ventricle's heart muscle thickens. Unlike the bodybuilder, this thickening is bad as it reduces the space inside the ventricle, leading to even more pumping.

Anyway, here's my story:

I was lucky to be at a hospital OB group so they called in an MFM specialist the same day after discovering the defect ... and they called upstairs to the pediatric cardiology department to get me an appointment for the next week.

The pediatric cardiologist diagnosed the defect with a lot of good information, but also a lot of "well, it can also be associated with x, y, or z developmental/chromosomal defect." Hearing this made us very anxious (obviously!) and we discussed our options while DH ranted about why we hadn't asked for a "non invasive" CVS test (sorry, but I don't think a needle in your cooch is "non invasive," but what do I know) earlier in the pregnancy. (My risk for Downs, etc., decreased after the results of the 1st-trimester screen.)

The MaterniTi21 test wasn't offered at the time, so we opted for an amnio.

If you have the option, obviously the blood test isn't invasive, but the amnio offered quite a lot more peace of mind because it's testing the actual genetic material from inside the amniotic sac.

I was fortunate that the MFM specialist who performed it does a high volume of them AND his associated pg loss rate was a great deal lower than the national/published statistical average.

It sucked, but we had preliminary (FISH) results in 3 days ... and DD is happily anticipating her 3rd birthday in 2 months.

Whatever you end up deciding, good luck with the testing/screening and the waiting. Honestly, the waiting sucks worse than the testing in my opinion.

[Snow mom]

I spoke to the nurse from the ob's office and they gave me a number to the Fetal Medicine Specialist. You leave a message and they call you back in 1-2 days! Which sort of stinks. I know my risk is somewhat low (although I'm 38 so the marker doubles my odds) and the test could be expensive but it is going to sit in the back of my head and drive me crazy.

Has anyone had the MaterniT21 or Harmony test and have it covered at all by an HMO?

Annie - sorry to hear about baby #2 :( Thank you for sharing.

The best thing to do is call your insurance and check (or the MFM may be able to do this for you.) There is a Maternit21 board over at BabyCenter which I found pretty helpful when I was going through this: http://community.babycenter.com/groups/a6732853/maternit21

[oneontheway]

I did call insurance but they needed a procedure code since they couldn't find the test by name. As soon as MFM calls me I will ask them what the code is in order to check. Now if they would just call me back!!

[kmkaull]

I just had the Verifi blood (baby's DNA) test done. It is similar to Materniti21, and is 99% accurate in detecting Down Syndrome and the other trisomies. My insurance covered it, though I was told if it wasn't covered, the out of pocket max was $250. I would call your insurance company.

Because I'm over 35, I didn't even bother with the NT scan. My OB said this is most accurate. Results took about 3 weeks because it was over the holidays. Typically 1-2 weeks.

http://www.verinata.com/providers/provider-overview/ (http://www.verinata.com/providers/provider-overview/)

[oneontheway]

I just had the Verifi blood (baby's DNA) test done. It is similar to Materniti21, and is 99% accurate in detecting Down Syndrome and the other trisomies. My insurance covered it, though I was told if it wasn't covered, the out of pocket max was $250. I would call your insurance company.

Because I'm over 35, I didn't even bother with the NT scan. My OB said this is most accurate. Results took about 3 weeks because it was over the holidays. Typically 1-2 weeks.

http://www.verinata.com/providers/provider-overview/ (http://www.verinata.com/providers/provider-overview/)

Great info, thank you.

[westwoodmom04]

My son also had a marker for Trisomy 18 shown at the 18 week ultrasound, his was bubbles on the brain or something like that. I had an amnio although I was terrified of it and wouldn't have had one otherwise (did not have one for dd1 at age 35). He was fine and the amnio was much less scary than I thought. If you can't get the bloodwork covered but the amnio is, might be worth going with the amnio.

[oneontheway]

Finally I heard from MFM and I have an appt Monday. She said the blood test they use is verifi.

[lizzywednesday]

Finally I heard from MFM and I have an appt Monday. She said the blood test they use is verifi.

Good luck! The tests are easy, but waiting is difficult.

Will they also offer a consult with a social worker to help you with the emotional portion of any diagnosis of "defect"?

I found that, although the MFM specialist and pediatric cardiologist who diagnosed my daughter's heart defect were capable and wonderful in their professional, medical qualifications, my DH and I benefited greatly from meetings we had at Children's Hospital of Philadelphia which included MFM specialists, cardiologists, nurses AND a social worker because the social worker encouraged us to express our anxieties in front of the "medical" people.

Whether it's something or it's nothing, I think having that "emotional care" person would help your family once you get more answers.

Lots of hugs! :hug:

[oneontheway]

They gave me the choice between the verifi test and the harmony test. I went with harmony. Now it's the waiting game...tbc