Wednesday, December 2, 2009

False Positve Quad Screen for Trisomy 18

John and I have been on a roller coaster ride for the past two weeks. I felt the need to blog about this experience for two reasons: A) it's therapeutic for me B) I survived these long days because of this blog I found called Jason and Amber G. I feel like I should repay the blessing their story was to me by putting our story out there. Jason and Amber have no idea how much strength and peace they gave me, and they may never know. But, at least I can be thankful.

My midwife asked me at our last appointment if we wanted to have the Quad Screen which tests for Downs Syndrome. I didn't think twice about getting this screening because it's a simple blood test that several of our other pregnant friends got without any stress. So, I went to the lab, gave a blood sample, and that was that.

Then, Monday night, I was in the grocery store when my midwife called. She told me that the Quad Screen results showed that our baby was at an "increased risk" for Trisomy 18. I had no idea what Trisomy 18 was, but I knew it was something chromosomal. I left my basket full of produce in the store, walked out the front door, got in my car and said to my midwife, "What is Trisomy 18? What is it about my blood that elevates our risk?" She told me that Trisomy 18 babies have an extra copy of the 18th chromosome, and these babies rarely survive to full term. If they do make it past delivery, the babies rarely live longer than a few days. Basically, this is the worst news you can hear about your baby. To make things even worse, my quad screen gave our baby a one in ten chance of having Tri 18 because of the baby's hormone levels. This is the highest chance our lab diagnoses. Even though the quad screen only tells the chances and does not diagnose the abnormality, this was still the worst news I could have ever imagined.

The midwife gave me a phone number to call. We needed to see specialists, and possibly get an amnio. Unfortunately, it was so late in the day, I was unable to get in touch with the specialist. So, I didn't sleep, and called first thing in the morning. Despite all my begging and pleading, the office still could not see us until Wednesday morning. So, I didn't sleep another night. By the time we actually got in to the genetic counselor, I was going on 48 hours without sleep, and I was a wreck. John kept telling me to be strong for our baby, and I was trying so hard, but these horrible thoughts kept creeping into my mind. I literally felt like I was going to throw up every time I even thought of the word Trisomy.

We met with the genetic counselor named Lara. She was super sweet, and she explained everything to us about our hormone levels, and John and I both had full family genetic analysis and blood tests. Lara told us that lots of babies make the same hormone levels that our baby does, and go on to be perfectly healthy. At the same time, our baby's hormone's resemble Trisomy 18 babies, so we would have to have a level II high-definition ultra-sound to look for "hard and soft" markers (behavior and anatomical indicators of Tri 18), and based on the ultra-sound, we could make the decision to have the diagnostic amnio.

We went in for the ultra-sound, and it was so hard to keep from crying because the pictures were really amazing. Seeing our baby for the first time was emotional! The tech performing the ultra-sound was explaining to us what we were looking at, and we were in awe. Then, she asked us if we wanted to know what the baby's sex was. We said YES! And we found out we're having a BABY BOY!!!! I was bawling, and John was glowing. It was awesome. Then, the tech printed the pictures and we waited for the doctor to analyze and come discuss the results with us.

The doctor came in and explained that with Trisomy 18 babies, there are definite indicators that you can't miss on an ultra-sound. I'll never forget what he said next: "Your baby has none of these indicators."

John and I now had a difficult decision to make because the doctor told us that our ultra-sound results significantly decreased our risk. However, in order to be 100% positive, we would have to have an amnio. In the end, John and I decided to get the amnio. We wanted all the information we could have, and the medical team assured us that our risk of miscarriage was about 1 in 500. Also, my placenta and baby were low in my uterus, so the needle did not have to cross through the placenta. The ultra-sound tech watched the baby the whole time so that the needle didn't hit the baby, and the whole process was over and done in about a minute. The hard part was waiting for the takes TWO WEEKS!

Some family and friends have asked if the amnio hurt. I hate needles and I can honestly say NO! It did not hurt at all, it was just weird because you feel the stick of the needle twice. Once through your belly, and then again through your uterine wall. It's the strangest sensation I've ever felt. Afterward, I was tender like a booster shot. But I just rested and took it easy for a couple days.

The next week was easy to get through because we flew to Texas for a wedding and Thanksgiving. I just refused to think about it. When we got back to Philly, though, it was tough. John had a big presentation to get ready for, so he was working a lot. I tried to distract myself with shopping with Alexis, knitting with Kira, and cooking A LOT. But, sometimes even sweet domesticity can't sway the mind.

It was easy to think positive because we had such a perfect ultra-sound. But, you still have a little pang of nagging worry in the back of your mind that grows and grows the closer you get to the phone call from the genetic counselor.

Finally, Lara called today! She said that they lab isn't done growing all 20 of the cells they are testing, but they have tested 17 of the 20....AND THEY'RE NORMAL!! 46 chromosomes! Lara said this is "very reassuring", and I am breathing easy!

All in all, I can't tell people whether or not to get the Quad Screen. All I can say is remember that the false positive rate is very high. I learned a lot through this experience, and I feel that John and I have both gained a huge amount of strength.

I have this image I want to leave you with: A Clay Pot. Remember that a clay pot has to sit in the fiery kiln before it is strong enough to serve it's purpose. I had to be "fired" to be strengthened. And I can tell you this: I'm gonna be one strong momma!

Peace and Strength,

PS: If you or a loved one are ever going through this, or something similar, and you need to talk:

I understand how hard it is to talk to your friends and family when you don't really know what is going on, and you don't really want to worry anyone. If talking to a total stranger helps, let me be that helper for you.


  1. I'm so happy and relieved for you guys. And I am THRILLED you are having a boy. I may be biased, but I think little boys are the BEST!!!

  2. I am 27 years old and 20 weeks along with my first baby. Last week my husband and I got the news that our baby boy has a 1/34 chance of trisomy 18. Our last u/s showed no abnormalities but we're having another with a perinatalogist tomorrow, and if there are any markers then we'll go ahead with the amnio. I might do the amnio either way.

    Anyway, I just wanted to thank you for sharing your story. It's made me feel a little better. Hopefully our results will be similar.

    Thanks again,