A Mom Confronts the Possibility of Down Syndrome

markers for down syndromeI remember holding my breath through so many tests and procedures when I was pregnant, just hoping this wouldn't be the time I'd hear that something was wrong.

So I really felt for Nola (naschaefer) when I read her post in Pregnancy about how her 20-week ultrasound showed soft signs of Down Syndrome. She had to decide if she wanted additional tests and was looking for some support from moms in the meantime. I talked to her about the experience.


Nola is 26 and her husband, Chris, is 30. They live in Florence, Kentucky and this Nola's first pregnancy.

Tell me a little bit about yourself and what happened at your 20 week ultrasound.

I was involved in a car accident a little over two years ago. I was hit head-on on the highway and broke most of my major bones -- legs, hip, arms, etc.

So, I wasn't even sure if it was OK for me to get pregnant but my doctor gave me the green light. I was already a wreck about this pregnancy because it's hard for me to believe that something so wonderful has happened to me in spite of all the bad luck.

I was worried about the 20 week ultrasound even before I went -- I just knew they were going to say something scary. They said they saw two soft markers for Down Syndrome. The first was a thickening at the back of the neck and the second was a bright spot on the heart. I freaked out.

They said you can do nothing, you can do the quad screen, or you can do an amnio. I opted for the amnio. I wanted to know unequivocally what the situation was. Also, I'm a nursing major in college and I know the risk of a problem with the amnio is low. Still, I was scared.

Did the doctor advise you to do additional testing?

They left it up to me. I'm just the type of person who needs to be fully informed to be able to deal with the situation. I wouldn't enjoy the rest of my pregnancy not knowing for sure, and worrying.

Have you gotten the results from the amnio?

The results came back and everything is fine! But I'm upset for myself and all the other women who hear this kind of news every day and freak out.

So, I called around and did some research. Basically this is what I was told by one doctor: "the technology is far too advanced for our minimal knowledge of it."

Over 50% of babies born with Down Syndrome never show soft markers on an ultrasound, and many babies have soft markers but once tested with an amnio don't have any chromosomal issues.

This is a lot to process emotionally. How are you feeling about things?

I'm frustrated by the lack of real, usable data and facts for moms.

Did you and your husband discuss how you would handle the information from the amnio?

It would have been a painful and difficult choice -- I already love my baby so much. But, for me, the thought was this: We would love him no matter what, but what happens when we're gone?

My sister had a condition that required state care for three years and horrible things happened to her. But God answered my prayers and everything is fine.

What, if anything, made you feel better during this time?

Talking, talking, talking -- and not researching too much online. Hugging my husband and holding my belly.

What would you tell other moms in a similar situation?

Lean on other people for support -- women are strong alone, but even stronger together. Lean on your sisters, mothers, friends, whoever you have. And pray -- pray for your baby and for God to quiet your mind. I know it sounds crazy, but it worked for me. Every morning I woke up a little less scared than the night before.

This is an incredibly difficult and scary topic, and one that other moms will inevitably confront, so thanks to naschaefer for being so brave to share her honest thoughts with us. Please be constructive -- your opinions are welcome, but any bashing will be deleted.

Have you encountered any situations that led to additional testing? Do you think we have too many tests while pregnant? Share your thoughts here.

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