Scan Indicated Down Syndrome (23w)

bobbyflies2020 · August 2016

Hi everyone,

I just got a confusing call - Even though our blood test came back negative for Down Syndrome, our anatomy scan showed a possible indicator of DS. I just did a presentation on Down Syndrome last week and I am battling some really scary thoughts right now. At the time we opted not to do any extra blood tests - just the usual blood tests covered by our insurance. Does anyone have a grip on the statistics or any insight on this situation?

I'm going to go in at 3:30 to do an emergency scan and my midwife will be there, but I'm wondering which is more conclusive the blood test or the scan? If anyone has any idea, even anecdotally, I'd love to hear it. Many thanks y'all. I hope your days are going better than mine!!!!!! :-)

penelope4612 · August 2016

Hi,

I think the answers to your questions depend a lot on what blood test you had and what they saw on the ultrasound that made them concerned for Down's. There are a lot of "soft" markers for Down's that are also commonly seen on scans of non-Down's infants. My understanding is that the risk of the markers actually indicating Downs is higher or lower depending upon what they saw and how many positive markers they saw. So it sounds like you'll get the best info at your appointment.

The blood tests also vary in accuracy; the free cell DNA test is much more accurate as a negative screen than the other screen that they do (which is the one typically covered by insurance, and I believe is only about 85% accurate, but it again depends upon a lot of things). Good luck, hopefully everything is fine.

maamawaabangi · August 2016

^^^ Very true. I'm sure you are worried. You're in my thoughts and prayers!

DiFazette · August 2016

What soft marker did they identify? They should be able to offer you some genetic screening options still. I hope it's nothing but ask all the questions.

leksiL · August 2016

Good luck at your scan today. Hugs!

jennbaylor12 · August 2016

I agree with the above comments. What markers did they identify? All of our genetic testing came back negative; when we had our AS this week they identified a very small trace of calcium on the heart, an EIF, which we were informed could technically be considered a potential marker - the Dr went on to say that if we had not had the genetic testing that would be the next recommendation. Seeing as we had already had the genetic testing and it was negative then the chances were less than one in 10,000 and the doctor was not concerned in the slightest. You will probably hear what you need at your appointment. Fingers crossed for you!

R0824H · August 2016

thinking of you! I hope you were able to get some better answers at the scan with your midwife!

bobbyflies2020 · August 2016

Thanks everyone. We rushed in and they calmly did another anatomy scan. I researched a list of soft markers and they mentioned that the baby had a nasal bone, which was good, the femur measurement was good and they finally got a conclusive measurement/look at the heart. I also finally got an answer that the soft marker they found was an inconclusive nuchal translucancy scan from the anatomy scan that happened 3 weeks ago!! It makes me so bewildered and freaked out because at the time they said the NT scan looked fine. (What else are they possibly missing?)

My midwife finally came and said that my previous blood work showed a Negative, but this was an extra precaution. She said we should get the genetic test because it i 99.8% conclusive, so we went and took blood and were reminded it would take 2 weeks to get the results.

Finally, the At-Risk Fetal/Maternal Medicine Doctor who initially called the midwife to have us come in, came in and said "We are fairly certain now your baby doesn't have Down Syndrome. I wasn't happy with the quality of the last NT scan. But now we can be fairly certain the baby does not have Down Syndrome".

When I finally got them to disclose the original soft marker was NT, I felt better because I knew that it would only increase my prior risk 17 times, and my prior risk had been established as very low to zero risk. Once I heard that the heart was completely checked out as fine, I felt better as well.

When I came home I still couldn't sleep because I was still convinced that my baby had Down Syndrome.. but I'm seeing things more clearly now. I will definitely get the genetic test at 12 weeks during my next pregnancy and was kicking myself for not getting it earlier. I know there are much worse things, but this ordeal was one of the scariest events in my life. I feel blessed it worked out and will keep my fingers crossed for the next two weeks. Thanks for the support- Maybe sharing this experence will be helpful to another FTM out there!

bobbyflies2020 · August 2016

Thank you R0824H! Sweet dreams everyone.

yellingbanana · August 2016

Just a heads up, even with the 12 week test, there are a lot of false positives. A good friend of mine was told that her baby had Down's Syndrome, and tried to convince her to abort the pregnancy. She didn't, which was a good thing because he did not end up having downs and is now a healthy 9 yr old boy.

bobbyflies2020 · August 2016

yellingbanana That is so frustrating and infuriating for your friend. There are all of the false positives, and then I also read that some babies with DS show no markers.. It leads me to be very confused about the stats as they are presented to me. However, I've heard genetic tests like Harmony/Panorama are almost as accurate as amniocentesis and I think I will do them in that order next time.

KRB22 · August 2016

Lurking from January 17

@MBS2016 I was told I had an elevated risk of DS based on combined first trimester screening. The NT measurements were normal, but my HCG was elevated. I had not done the free cell DNA test at the time because I was also told after my NT scan that there had been a vanishing twin, and the DNA screen test is not accurate in that case.

I ended up seeing a maternal fetal medicine specialist (who did not see evidence of a vanishing twin), and also met with a genetic counselor, who recommended we do the DNA screen via Maternit21. I got the results in a week - low risk for everything - but it was a nerve wracking time. I can sympathize with what you're going through. The genetic counselor told us that if the Harmony/Maternit21/etc tests are "negative" for DS they are very reliable. (I think they can generate false positives for various reasons, eg, a vanished twin, or something in the placenta, but a negative should be pretty accurate).

I hope you get your results soon and are not overly stressed in the meantime. It's a good sign that your latest scan looked normal, and that the MFM thinks your risk is low, so hopefully you can take some comfort in that.

sourlemon · August 2016

Due to a false positive in my first pregnancy, we will never do any sort of testing. That can be just as nerve wracking / scary / devastating as well, especially when you don't have a conclusive answer until after the kid is born.

KRB22 · August 2016

@sourlemon I declined the 2nd trimester screening for this reason. Not sure what we'll do next time around, but will definitely skip the bloodwork that's normally done with the NT scan.

yellingbanana · August 2016

sourlemon said:

Due to a false positive in my first pregnancy, we will never do any sort of testing. That can be just as nerve wracking / scary / devastating as well, especially when you don't have a conclusive answer until after the kid is born.

We are in the same boat. We didn't do any of the testing because of false positives. Our DD2 had 3 false positives on cystic fibrosis when she was born. She's completely healthy. Plus, we are going to have our baby regardless. I feel that the tests caused me more stress than necessary. If our baby is different, then our baby is different.

ashleaf2018 · August 2016

I'm glad all is well, just came to mention that they told my mom at her AS that my sister had DS, she was born happy and healthy without DS. Not every testing method is fool proof, even now.

cjt121413 · August 2016

OP, I'm so glad you got good news. FX everything continues to go well.

Kacie209 · August 2016

I wasn't around then, but I guess when my SIL found out that their son had DS, it was due to extra fluid they saw in the neck at her 20-week scan. They didn't do any tests prior to that, due to her age (27), so this was the first time they had heard anything about it. She did an amnio after that and that is how it was confirmed. At that time, they were given the option to abort or continue on. She also had a OB who was awful and basically seemed to care less about the whole thing, which I thought was odd.

So yeah, our oldest nephew has DS and it was very tough for them at the beginning. He went through heart surgery at 4 months, due to a hole in his heart, but is a fun and vibrant 7.5 year old now! I don't think they'd have their life any other way.

Glad everything turned out great for you!

PensiveCrayon · August 2016

Yes--@Kacie209 I'm glad you posted that. I have two friends whose boys have DS. They were both in their twenties when they had the little munchkins, first kids for both of them. And it's not the end of the world! They bring their parents so much joy, and they've both gone on to have perfectly healthy #2's. I'm terrified that my A/S on Wednesday will indicate something abnormal, but I keep trying to look to them as examples.

Kacie209 · August 2016

@PensiveCrayon That was our thought too, especially with the family history and my age (35) - if it's going to happen, that is OK and at least we'd be prepared (I ended up testing as low risk). DH is his godparent (and so am I, now) and was around for EVERYTHING that kid went through as a baby until this day.

My SIL and her hubby went on to have a healthy #2 (another boy), who just turned 4 in May.

brittnic86 · August 2016

Glad baby is fine. I swear doctors loved to freak you out! My SIL was told her baby's head was a little big, and that meant she possibly had Downs...she's just fine!

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