Soft Markers Found On Ultrasound

bumpuser2452272 · January 2012

Today I had an ultrasound at 18 weeks. Everything went fine during the ultrasound, but afterwards we were asked to stay and talk to the doctor. It turns out that the doctor found 2 soft markers on our ultrasound. One was a cyst in the babies brain. Apparently these can be indicators that your baby has down syndrome. My doctor said we could talk to a genetic counselor if we wanted, but she thought that the soft markers only increased our risk of having down syndrome to 1%. She said the only way we could know for sure that the baby had down syndrome was through amniocentesis, but that comes with a risk of miscarriage (1/300).

She tried to reassure us by telling us that the babies hands were open, which is a good sign.

Has anyone ever experienced this? My husband and I are both very concerned about the health of our baby.

jmaeberkley · January 2012

My question to you would be, if your little one does have downs syndrome will it effect how you continue with your pregnancy? And is it going to bother you not to know if your little one has downs? Those were the questions we asked ourselves when deciding on the genetic testing...we decided for us, the risk was too great after losing our twins, to even think about doing something that could cause miscarriage...but that's a choice the two of you have to make together...I'll send prayers and good thoughts your way!

mobiz · January 2012

i had that EXACT same scenario with my DS. he had a cyst on his brain and they couldn't visualize all 4 chambers of his heart. both can be soft markers for Downs. at a subsequent u/s they saw 4 chambers but the cyst was still there. and by a later u/s the cyst was gone. We chose not to increase any risks of issues with an amnio, and my DS is 100% healthy. They legally have to tell you they found these things, but from what our doctor friend told us so many babies have those brain cysts and they clear up by themselves and mean nothing that it really does just freak people out unnecessarily.

Good luck!

mrussello · January 2012

This must be a terrifying experience. When my half sister was pregnant with my niece (she was 34), they also got soft markers. They chose to not do an amnio. Fortunately, my niece is an extremely healthy 12 year old girl!

My mom had the same with her last pregnancy. She was 42 and had an oops with my sister. Markers all pointed to Downs and she went in to have an abortion (she didn't tell anyone she was pregnant), but had an amnio done right before. All turned out to be clear and my sister is now a 14yr old teenage monster!

You never know. Happy and Healthy thoughts to you.

goldenleaves · January 2012

What was the other soft marker? If you're leaning towards the amniocentesis I can at least tell you that it was nowhere near what I was expecting! Not really painful at all. Our little one does have Down syndrome, but please know that it is very rare and I had way more than just two soft markers. (((hugs)))

softballgurl1 · January 2012

yes we went through this a few weeks ago and the dr we saw said that it was just some extra fluid on the cranium and that it should be gone in a few weeks so i wouldn't worry too much. just remember not to stress too much like i did it isn't healthy for the baby

sincavage1 · January 2012

I am sure that is very scary and I would hate to be in your position. I think I would definitely make a list of pros and cons. The risks of amniocentesis resulting in miscarriage are low, so if you are going to worry about this the rest of your pregnancy then get it done. However, if you have looked at both sides of the situation and feel you can live with the outcome regardless then it may not be necessary to have the test done. Only you can make this decision and there is no right or wrong choice. It just depends on where you and your husband are at emotionally. Good luck!

stemms8810 · January 2012

theresat858:

Cysts are a soft marker for Downs, but they are also observed in about 20-25% of all anatomy scans at 18-20 weeks. Did you have the NT scan or the Quad screening blood work done? (You can still get the Quad blood work done until 20 weeks). Those numbers can provide insight into what your risks might actually be. My LO has cysts on his/her brain, but my doctors are not worried because my bloodwork results came back with really low risks.

As far as an amnio, if you do opt to have one, I would shop around...1/300 is a very *high* rate for the risk of loss and I would not have an amnio done somewhere with such numbers. The average is closer to 1/1600.

The bolded part is what I am wondering as well. I would ask about the quad screen bloodwork to find out more about your risk before proceeding with an amnio.

BellaElla79 · January 2012

theresat858:
Cysts are a soft marker for Downs, but they are also observed in about 20-25% of all anatomy scans at 18-20 weeks. Did you have the NT scan or the Quad screening blood work done? (You can still get the Quad blood work done until 20 weeks). Those numbers can provide insight into what your risks might actually be. My LO has cysts on his/her brain, but my doctors are not worried because my bloodwork results came back with really low risks.
As far as an amnio, if you do opt to have one, I would shop around...1/300 is a very *high* rate for the risk of loss and I would not have an amnio done somewhere with such numbers. The average is closer to 1/1600.

I am wondering this as well. I would base my decision off of what the blood work said and if you or your SO has a history of downs in the family. If the blood work came back with a high/moderate possibility of downs, and you or your SO have a family history of downs, and they found the soft markers..... then YES I would do the amnio..... but to be clear, this is just ME. DO NOT let ANYONE pressure you into doing something you are not comfortable doing.

cowgirl_up521 · January 2012

This just happened to us too. It is very scary, and is very upsetting. We didn't get asked if we wanted to see a genetic specalists we just were told we were going too. He was fantastic and did another full ultra sound, I also did the blood test prior to all of this happening. He explained to me that fetuses get cysts, and they can be signs of other issues, but they don't usually mean anything is wrong. I am glad they didn't give us a choice, because if there was an issue then I would be able to plan for a special needs baby. So do what you need to do to make yourself less stressed out. I did, and didn't listen to anyone else. It is your baby and you two get to decide what to do. My next step would of been an amnio, if my blood test came back positive and all the soft markers were still an issue, and I think I would of needed to do it.

I am sure everything is just fine, but remember it is your baby and you decide what is best for you and the baby.

eav2c · January 2012

Stacy5454:

Today I had an ultrasound at 18 weeks. Everything went fine during the ultrasound, but afterwards we were asked to stay and talk to the doctor. It turns out that the doctor found 2 soft markers on our ultrasound. One was a cyst in the babies brain. Apparently these can be indicators that your baby has down syndrome. My doctor said we could talk to a genetic counselor if we wanted, but she thought that the soft markers only increased our risk of having down syndrome to 1%. She said the only way we could know for sure that the baby had down syndrome was through amniocentesis, but that comes with a risk of miscarriage (1/300).

She tried to reassure us by telling us that the babies hands were open, which is a good sign.

Has anyone ever experienced this? My husband and I are both very concerned about the health of our baby.

We had this and I think you might be overthinking it (but, I do understand why). Have you done the quad screen? It's not really that effective but it's less evasive than an amnio. Often times it gives false positives but... we were directed by our doctor to have it done once they found cysts on LO's brain. Needless to say, came back negative and we're good to go. There are some pretty obvious indicators visually that point towards DS and if the doctor said not to worry... then you shouldn't. Our doctor told us that he was 100% that LO didn't have downs even before the qaud screen. In fact... cysts are found in ever 1 in 4 babies and they debate that even more babies have them in utero but they just disappear before the a/s. So, really... I don't think you should be concerned. I understand why you are--I was too but a google search should make you feel pretty confident that everythings okay.

nmeirose · January 2012

Cysts are actually not associated with down's syndrome, but are associated with Tristomy 18 (aka Edwards syndrome). I am not saying this to scare you, just to clear up the misinformation because Edward's syndrome is a much more serious chromosomal disorder for which children normally do not survive. So it's a more serious decision to make than 'would I terminate a down's baby', if you know what I mean.

I agree with pp-ers that in the VAST majority of cases these cysts mean nothing and the baby is healthy. However, if it were me I would probably have the amnio to put my mind at ease. The source I found said that the risk of Edwards syndrome based on the finding of an isolated cyst is 1:189, and should be adjusted for your age from there.

I am sorry and am not trying to be the bearer of bad news, just wanted to clear up that misinformation and like ppers said, I am sure your baby is fine- the majority of babies with this are. Good luck and peace to you, whatever decision you make.

https://www.sogc.org/guidelines/public/162E-CPG-June2005.pdf

Hkaye · January 2012

My blood test came back with a risk of downs 1 in 39 and I am only 29. I was so upset but went ahead and did the amnio so that if my baby did have ds I could prepare for her and if she didn't I could breath a sigh of relief. Those odds of miscarriage are more like 1/1000 now and my doctor has never had a patient have a miscarriage in all years she has done them. I did my research and found that soft markers can turn out to be a normal healthy baby too so I wouldn't rely just on that. And those statistics are from the 1970's and alot of miscarriages were because they didn't do ultrasounds to see where the baby was at. For me it was about being prepared if baby did have ds but its a personal decision that I think you and your husband need to make together. Good Luck I totally know how you feel and I am sure everything will turn out ok.

Asquared · January 2012

my 2nd dd had a soft marker too- spot on her heart. They only tell you about those in this country because we're so sue happy and so many people will just abort as if it's nothing. There was no way we were aborting even if it turned out to be DS, so while we had the more detailed u/s we did NOT do an amnio- all the worry for absolutely nothing- she's as perfect and healthy as can be. Try not to worry- most of the other first world nations do not even tell if that is the only "marker".

Aleja0918 · January 2012

theresat858:
Cysts are a soft marker for Downs, but they are also observed in about 20-25% of all anatomy scans at 18-20 weeks. Did you have the NT scan or the Quad screening blood work done? (You can still get the Quad blood work done until 20 weeks). Those numbers can provide insight into what your risks might actually be. My LO has cysts on his/her brain, but my doctors are not worried because my bloodwork results came back with really low risks.
As far as an amnio, if you do opt to have one, I would shop around...1/300 is a very *high* rate for the risk of loss and I would not have an amnio done somewhere with such numbers. The average is closer to 1/1600.

All of this, especially the last paragraph. That's probably the highest rate I've heard of.

JuliaJAG · January 2012

Ditto what the others said about cysts being VERY common in perfectly healthy babies (they usually disappear by birth).

As for amnio and the risk of miscarriage, yes, the risk of mc directly caused by amnio is extremely low. But, the real risk is pre-term labor caused by the amnio (and related complications... e.g., a resulting infection which can also lead to pre-term labor).

I was given a 1/88 chance for Down's syndrome, but I'm personally not going to risk amnio just because of that. Maybe I would if there were numerous soft markers AND bad bloodwork AND the baby were measuring a week or more behind... but for one or two soft markers (especially ones that are common in healthy babies)? No way would I personally take the risk associated with amnio. But, that's just me!

happynewmama · October 2013

Isolated Choroid Plexus Cysts are NOT thought to be a marker for down syndrome anymore. They are actually thought to be a normal part of development. Of course, a baby with down syndrome might have a choroid plexus cyst, too, but that is just a coincidence.

happynewmama · October 2013

Please look up (google) and read the article The Best Way to Terrify a Pregnant Woman by Dr. Roy A. Filly, MD.

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