Thoughts On Prenatal Screening
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During our first pregnancy, there were some concerns that came up as a result of prenatal screening. From the first ultrasound, they identified an echogenic focus in the left ventricle. (For those non-medical types, like me, basically it means they saw a bright spot on her heart.) What was never mentioned to us was that echogenic cardio foci are a controversial and weak marker for trisomy-21, also known as Down’s Syndrome. My daughter was born completely healthy, with no anomalies, genetic or otherwise. Now, my wife is 20 weeks pregnant with our second child. Thus far, all prenatal screenings have come back negative, and as far as modern science can tell us, our fetus is perfectly healthy, and has no disorders to speak of.
I say all this as a preface, acknowledging that I have no first hand experience with what I am about to discuss.
Today, a woman who works in my office came to me and shared a very personal matter. Her daughter is pregnant, due within weeks of my wife. She found out earlier this week that her bloodwork screened positive for Down’s Syndrome. She was scheduled for amniocentesis yesterday, and should receive the initial results before the end of the week.
My coworker’s revelation sparked my curiosity, so I began to collect information from as many sources as I could online. Unfortunately, much of the clinical data is only available for purchase, and I was not curious enough about my questions to pay that much for individual articles. However, I was able to learn that the bloodwork screening provides a false positive 7-8% of the time, so I am more optimistic for my coworker and her daughter. However, in the course of my information gathering, I also learned that 91-93% of positive screens result in termination of the pregnancy (source: Prenatal Diagnostics).
More than the realization that someone I “knew” going through this process, that revelation got me wondering about how I would handle such news. Sure, in the early stages of pregnancy, once you’re past the holding your breath every day hoping there’s no miscarriage, you go for bloodwork that you know is to check for a whole host of “things that could be irregular with your baby” but there isn’t that time to pause and consider what you would do if, in fact, there was something irregular. So I sat there, and tried to put myself in her shoes and I quickly realized that I was going to a place I didn’t want to be, and stopped myself. The fact that more than nine out of ten couples did what I was considering was no consolation to me.
But she cannot stop herself from going to that place, not yet, anyways. And from what she has shared with her mother, she has no idea what she’s going to do if the amniocentesis confirms the bloodwork screening.
If anyone out there has their own experiences with this situation and is comfortable sharing them, I would really appreciate you posting a comment about it. Whether you screened positive and then further testing came back negative, or you screened positive but the baby was born without Down’s, or you have a child with Down’s Syndrome, I think it would add to this.
Update: My coworker’s daughter had the amnio done and got the results late Friday afternoon. The screening came back negative for Down’s (and they also found out it’s a girl). Thanks to everyone who shared their experiences and thoughts on that sensitive subject.
Melissa Haynie says...
My next door neighbor had the blood screening done and it came back with markers for Downs…. she was devastated and went on with some of the other test every thing came back pointing at the fact that she would have a down’s child. She proceeded with the pregnancy knowing that she would love her child no matter what. Her son is fine. He is a perfectly healthy 3 year old boy with not a hint of Downs. So while it can be scary it isn’t always right.
LD says...
It’s a tough tough call.
I chose not to do the screening the first time around because I didn’t want to know.Second time around I thought I was silly the first time and went for the screening. But, I wasn’t at risk and not all that worried.
I know 2 people whose pregnancies didn’t continue due to tests. (one was downs syndrome, one was much later term and various issues). In both cases it was really traumatic for the women, and both to this day are very sad about it. It’s a horrible choice to have to make.
I’m honestly not sure what I would choose, but I’m eternally grateful that it is a choice I’ve never had to make.
Tricia says...
Oh this brings back memories.
I skipped the AFP test with both pregnancies. However, I ended up living a nightmare anyway.
With my second pregnancy I was exposed to a virus (Fifth Disease). They sent me for a “routine” level II at 10 weeks. All was well. For whatever reason, they scheduled a second Level II at 18 weeks. That’s when all hell broke loose.
My unborn child was diagnosed with complex congenital heart defects. We were told to terminate. We refused. They pushed us. We refused. Rinse. Repeat.
This is a very long story. You can read all about it on our website. But I’ll tell you once you’re labeled as “high risk” due to defects, they’ll look for EVERYTHING that could possibly be wrong. We were told she could have downs. She may not survive until birth. They thought she had something wrong with her skull. As a parent you develop some thick skin or you’ll go crazy. Literally crazy!
Fast forward 4 years. My daughter is an amazing, beautiful child. She’s had three heart surgeries but no Downs, no problems with her skull (outside of being a hard headed kid <wink). She’s smart as a whip and we’re thankful everyday for her being with us.
Having been through all this - If we were to get pregnant again, I’d still skip the prenatal screening. I’d get the u/s and be done with it. 99% of the time they stress people out unnecessarily.
mamatulip says...
My routine 20-week ultra sound w/ my son had some red flags. The first I was expecting - placenta previa. The second I wasn’t - cysts in the brain, also known as choroid plexus cysts, which I learned could be a marker for chromosomal abnormalities, such as Down’s or Trisomy 18.
Though my OB told me that many times the cysts went away on their own and that it could just be a shadow that was mistaken for a cyst, I was absolutely beside myself. I was sent for a Level 2 ultra sound at a university hospital and although I didn’t have to wait long - about a week - I couldn’t stop myself from going to those dark places, asking myself the “what if’s” in my mind.
It was a very tough time for my husband and I; we were forced to, as parents, consider things we’d never considered before, nor wanted to. We had to ask ourselves tough questions, and our answers were different from one another’s. We had to consider a life we’d never even thought about before, and how we’d cope. It was scary.
In the end, my OB was right - the cysts were gone by the time I went for my Level 2 ultra sound and my son is now a healthy, rambunctious almost 3 year old. But that experience, and the thoughts that came about as a result of it, are ones I won’t soon forget.
MrsH says...
Wow at Tricia’s story. Isn’t it unbelievable how wrong doctors can be? I will keep this story in mind for future pregnancies.
jess says...
check out this wekbpage for information on this topic:
http://www.prenatalpartnersforlife.org
Haley-O says...
I think modern science has given a lot more choice as to whether or not we get the baby we “want”…the sex, the health….
But, at the same time, so many pregnancies are being terminated…for fear…, when perfectly wonderful children can be born…. This saddens me.
That said, I know quite a few people who had false positive results for down syndrome. It happens all the time — and all the testing can be stressful, which is, also, not a good thing….