16 answers

"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!

What can I do next?

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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.

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