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"Soft Markers" Found in Fetal Ultrasound

This is my second pregnacy. I am 19 weeks along and just had my first ultrasound today. Most things look fine. Baby is developing normally. However, when the doctor came in he pointed out 2 indicators. These are 2 out of the 13 "soft markers" that they look for to indicate that more screening should be done to determine possible chomosomal abnormality (down-syndrom, etc.). They were "single umbilical artery" and "echogenic intracardiac focus" (in which not just one calcium deposit was found in the heart, but 2!)

At my first prenatal visit I declined the quad screening because I didn't understand what I was sposed to do with the results. I don't believe in abortion and I know that the false positive rate is very high. Now I wish I had taken the test earlier, because I'm so thirsty for more information! They drew blood for the test today, but I'll have to wait a week to get results.

I know that these things show up in normal healthy fetuses. The doctor explained things very well. But I just wanted to check in with any other moms out there who experienced this. I'd like to know what you personally had to go through (emotionally and medically) to be sure of the health of the baby, or live with the uncertainty through the pregnancy, or to deal with firm results indicating a birth defect.

Thank you!

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My oldest son had a single artery umbilicus, and he was born 3 days after my due date, 8# 3oz, 21 in long, and was and is still completely normal and healthy. He's now 13, and I have had 3 other children since then and it never happened again. Good luck to you.

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My experience was different from yours but I wnated to share a little bit. When I had my 18 week ultrasound my son was found to have a cystic hygroma (a large cyst around his neck) They also thought he had problems with his heart. We had not done any of the other testing. We actually had been told there was no chance of survival. I also do not believe in abortion and even though advised to terminate I could not. I went into a serious depression but after about 2 weeks a friend came to me and said. "If this is how you are feeling, how do you think your little boy is feeling?" My entire outlook changed. How could I expect my son to fight for his life if all I was feeling was dispare. I decided that we will never know exactly how things will be in any situation. I wanted to enjoy every moment I had with my son, so I sang and rocked and enjoyed every moment of my pregnancy. Well my son is now 6 1/2 years old. He is beautiful I don't know what I would do without him. He does have what is called Noonan's Syndrome but it is very mild. Technology isn't everything and doesn't always give us the right answers. So love your baby and enjoy your pregnancy.
Hugs!
~M.

1 mom found this helpful

I don't have helpful advice other then my friend had soft markers for Down Syndrome. She delivered a healthy and energectic little boy who is two now and absolutely fine. I hope that helps just a little.

I have not gone through this problem. I hope you find some answers and people will respond to you. I hope everything turns out ok.

I know your post was a long time ago, but I am in a similar situation and would really like to know how yours turned out!

My oldest son had a single artery umbilicus, and he was born 3 days after my due date, 8# 3oz, 21 in long, and was and is still completely normal and healthy. He's now 13, and I have had 3 other children since then and it never happened again. Good luck to you.

Wow, does your story bring back memories! We had soft markers show up in our first ultrasound, confirmed with a level two. Among other things, it could have been Downs or a CMV infection. CMV can cause very serious birth defects. By the time of our second level two ultrasound, everything looked fine and the doctor told us not to worry. Of course, I am a cautious person, so I had my daughter tested for CMV when she was born. Unfortunately, it was positive. She is a healthy, happy 5 month old now, but we do have to have her hearing checked every few months because CMV can cause progressive hearing loss. It's a good thing that I asked for the CMV test or we never would have known, and some CMV babies need treatment right away after birth. (My daughter didn't, but it's important for us to stay on top of her hearing.)

Anyway, my point is that everything might be just fine. I think it's important, though, to ask a lot of questions, do your own research, and advocate for your baby. I was actually surprised by how much my doctors didn't know about CMV. We finally found a specialist who gave us great advice, but we would have gone down the wrong path if I had listened to my OB or our regular pediatrician. Even the best doctors can't know everything, and no one loves your baby as much as you do. I also found that I was less scared when I had more information. The unknown was more scary for me. When I knew what we were facing, I felt like I could be better prepared. Now that we're "only" facing possible hearing loss, I feel like I can appreciate the blessing that it wasn't more serious.

Good luck!

My daughter found out she was missing umbilical veins in about the 6th month. Her daughter was born about 6 weeks early, though they aren't sure whether it was due to the umbilical anomaly or not.

My granddaughter was in the NICU for 3 days, then sent home. She is healthy and growing well with no ill effects that can be seen now.

Not quite the same, but a scary time for all that turned out well.

Sometimes prenatal testing is good, because it can be reassuring. But a lot of times it just causes unnecessary worry. My quad screen results were combined with a nuchal fold translucency ultrasound (done at 12 weeks) and gave me a higher than normal risk for Downs. (However, the risk was NOT higher than normal when you factored in my age, which is 39.) The perinatologist said the results "pointed" in the direction of downs. Also, a 16-week ultrasound showed a "soft marker" (a hyper-echoic bowel, whatever that means). So all this made me worried enough to go for the amniocentesis. Then after an agonizing wait, the results came back with all chromosomes appearing normal. You'll be happy to know I am holding an extremely healthy, chromosomally normal baby girl right now, who was born 5 days ago. A majority of the time, everything is fine, so hopefully you won't worry too much. If you do get the amnio, ask for FISH results, which are prelimary results that come back in a couple of days, versus the final results which take up to 14 days.

J. -

While pregnant with my daughter (3rd child) we had a level 2 ultrasound during which the doctor found some 'markers' (can't remember how many). But the number they found vs the number the didn't find put us back to ave. risk for my age (35 at the time). We decided to have an amnio to find out for sure. Our 2nd child was born with a congenital heart defect. After all his surgeries my husband was done with surprises. We just wanted to know what we were going to be facing. Fortunately all came back well with the amnio results. It is a risk to have an amnio, but we felt having a definate answer was worth the risks. Foruntatly I didn't have any of the possible side effects after the amnio.

Good Luck! Do research and keep asking questions until YOU are satisfied!

P., Shakopee
mother to 3 kids: son 9, son 7, daughter 3
gestational surrogate due Jan 09!

Have the test that way you can relax or prepare yourself and research the problems if there is any. I agree on the abortion issue and it makes me sad to think it even comes up in the doctors office. Keep your chin up and know that whatever the future holds you will always have God with you. Good luck.

My experience was a little different, but it may help. I had a level 2 ultrasound and they found nothing that would indicate there was a problem with the pregnancy. My daughter had downs. Apparently there are heart problems and kidney problems that they can pick up that would indicate downs. Anyway as it turned out our little girl died at 31 weeks. We couldn't find a real reason for her death so I can't fathom any other tests would have helped to save her life. I am pregnant now and I decided that I don't want the level 2 ultrasound or the blood work to find out if the baby has downs. Neither one is going to change things and a positive would only make me worry. We love our little girl and miss her profoundly and would have been glad to raise her no matter what special needs she had. We feel the same way about they baby I am now carrying, I just can't see where more information is going to help. If a complication arises, then I may change my mind, but I feel there is now reason looking for trouble when the tests make so many mistakes.

My daugher too had an ecogenic heart focus. The only way we could rule everything out was by having an amniocentesis. Wasn't pleasant but let us know that everything was A-Okay. Ask what your options are and then you and huby can make decision from there.

Becoming pregnant and maintaining a pregnancy is a gift to all women. I had a scare with my 3rd child. The ultrasound results showed a 2 vessel cord after a previous 3 vessel the month earlier. There were other things too that came in the "high" end of normal that they wanted to monitor - something with the baby's kidney's, my age. Anyway, after a lot of panic & scary research on-line, which I recommend to avoid, since you are unsure of any actual abnormalities, my happy experience turned into months of worry. I was monitored and had numerous ultrasounds, including the 3/4D and all looked fine. I think that the "soft markers" can help but also cause a lot of anxiety. I would go for further testing to ease your mind. I did not have an amnio and did not choose to have any of the testing because I would not terminate my pregnancy. But if I had and had something been diagnosed, I think I could have prepared a bit and not been surprised at the birth. I went on to deliver a very healthy 9.5lb baby right on time. I do believe in the work the doctors do, but I think there is too much technology out there causing too much anxiety in what should be the most happy time in a families life. Think about it, was there all this extra testing and ultrasounds 20-30 years ago? Good luck to you & your family.

Hi J.,
You are correct that the screenings are not always accurate. I know people who had positive results and the baby did not have Down syndrome. I, myself had a triple screen and ultrasound which was completely normal and our little boy was born with Down syndrome. The only way to know absolutely is an amniocetisis.

So, I can only tell you that having a child with Down syndrome is not the life that you envision before you have a child with a disability. These kids teach you things you never knew you needed to know. You will love your child just like any other child.

I'm so happy to hear that you do not believe in abortion. Living with an unknown is very stressful, but if you find out that your baby does or has a high liklihood of having Down syndrome, I would encourage you to contact the Down syndrome Association of Minnesota at www.dsamn.org. They are incredible people and you will be so surprised at how much support and information is out there.

I've talked with several parents just after they got a diagnosis and were in a "grieving" period. I always tell them "I'm going to talk to you a year from now and I gaurantee that your outlook on this will be completely different and you'll wonder how you ever felt this way about the incredible kid you have."

Please feel free to keep in contact with me if you want someone to talk with or to find out more about Down syndrome or special needs. Don't feel you need to handle this yourself. There is lots of support out there: people to talk with, other moms, etc. The special needs community is a very close-knit, loving community that is always willing to help someone out.

You can email me at ____@____.com.

Sincerely,
K.

I'm in the same boat as Kelly. With my son, I had no indication that he was going to have down syndrome. I found out a week after he was born that he has down syndrome. All I can say is that I wouldn't do anything different. He is my special guy that makes my life more interesting, he helps me realize time to stop and smell the roses. We found out recently that we are going to have to take care of him for the rest of our lives, and I still wouldn't change anything. See Ryan has more complicated issues other than the Down syndrome. Oh and I was only 19 when I was pregnant with Ryan, and I went on later to have perfectly health twin daughters 3 years ago. If you find out results that swing with Down syndrome or if you have further questions you can always email me at ____@____.com

M.
mom to Ryan 9 (DS, autistic like tendencies, Bipolar, insensitivity to pain)
Abbey and Alexa 3 and perfectly normal

After viewing a number of posts and websites when soft markers turned up on my daughters ultrasound, I wanted to share my experience in hopes of giving others some comfort.
My 18 week ultrasound, turned up two large choroid plexus cysts, two echogenic foci and a possible lemon or strawberry shaped head. My OB sent me for a level 2 ultrasound at a GTA hospital followed directly by a meeting with a genetic counsellor.
We had the ultrasound and the technician would not say much, but assured us the genetic counsellor would discuss all results with us immediately after the scan. In our meeting with the counsellor, the radiologist called in a verbal report on the results since there was not enough time between the scan and the appointment to provide the written report. The news was devastating. We had gone from having 2 very common soft markers to being told our baby had: an enlarged cisterna magna and cerebellum, nuchal fold at 6.7mm, ventriculomegaly, slightly lemon-shaped head and two areas in the heart that looked like there may be heart defects. The genetic counsellor told us based on these results there was a very high probability of genetic defects.
We had an amniocentesis the next day and scheduled a fetal echocardiogram the next week. It was the longest two weeks of our lives as we waited for all the results to come back. In the meantime, the radiologist finalized his report and when he did some remeasuring he decided there was no ventriculomegaly, and the cerebellum and cisterna magna were within the normal limits. This left us with potentially having heart defects, the two foci, the two CPCs and a nucal fold slightly over the 6 mm threshold.
All of the test results came back normal. A follow up ultrasound with a specialist in Toronto also assured us that there were no abnormalities on he could see. He said he sees thousands of CPCs and echogenic foci to the point he does not even report on them as they are not a cause for concern.
I gave birth to a healthy baby girl in October. She is almost 6 months now and continues to meet or exceed her developmental milestones.
It helps to remember these soft markers on ultrasounds are not determinative of a defect. And also that mistakes are sometimes made. I hope my story can provide peace of mind to someone in a similar circumstance.

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