Tuesday, December 30, 2014

Abnormal quad screening, negative maternit21

So what would pregnancy be without a little drama?

Overall things have been much easier this pregnancy and going really well. Then I got an abnormal quad screening result.

The quad screening checks for downs syndrome and other neural defects in the baby by looking at your age, the NT ultrasound at 12 weeks, a blood test around 12 weeks and an additional blood test around 18 weeks. After the NT scan and the 12 week blood work, our chance of the baby having downs syndrome was 1 in 10,000. With the twins, I never got the 18 week blood work b/c the numbers aren't very accurate for twins. But I went ahead and got it this time. Wish I hadn't!

So I hadn't really thought much about my blood work until I got a voice mail from a "genetics counselor" in the high-risk doctor's office wanting to discuss my blood work results. My heart sank. I knew this wouldn't be a good call.

My AFP (alpha fetoprotein) numbers were low (0.4) which can suggest a possibility of down syndrome. So that 1 in 10,000 chance dropped to 1 in 120. If the numbers are lower than 1 in 250, they are considered positive for a screening. So technically my test was "positive" not meaning the baby would have downs syndrome, just that my screening showed a higher likely hood.

The genetics counselor explained about the 1 in 120 results. Keeping in mind that this is still very low odds (less than 1 percent), she explained I had a few options.
1. Do nothing. Less than 1 percent is still very low.
2. Amnio: Doctors can take a sample of amniotic fluid to determine with 100 percent accuracy if baby has downs syndrome. However, it does have a chance of miscarriage. I declined this option.
3. Maternit21 test: A blood test that can determine with 90 to 96 percent accuracy if baby has downs syndrome. A blood test didn't seem too bad - I opted for this option.

So I had the Maternit21 blood test done the day after Thanksgiving and it took about ten days for results to get in. Baby does not have downs syndrome! Hooray!

The only hiccup in this entire drama? Because my quad screen was a false positive, there is a connection between having these kind of results and having placenta problems in the pregnancy, specifically with preeclampsia and IUGR (intrauterine growth restriction). Basically it would mean the baby wasn't growing correctly and combined with high blood pressure and the risk of preeclampsia turning into eclampsia, there would be a possibility of needing to deliver early.

That's a lot of scary shit.

BUT, all this means is that I have a slightly higher chance of developing preeclampsia and IUGR. So they are going to monitor me closely and hopefully I don't have any issues. I'll have a growth scan at 28 weeks, then starting at 32 weeks I'll have a weekly (or bi-weekly if needed) growth scan.

I felt absolutely crushed at first. I have been determined with this pregnancy to not have a baby come early, to avoid the NICU at all costs, and to keep my baby growing inside as long as possible. I also felt bummed because if I was having any problems, they would have to induce me which would mean no vbac (apparently being induced after a c-section has a high risk of rupturing and both baby and mama could die). So it's not like a c-section is the end of the world, but my heart is set on delivering vaginally and holding my baby right away. I still feel a little traumatized by the girls birth when they were taken immediately and I didn't even see them for four hours, let alone hold them for days!

As I've had time to process this and talk to my doctor, I feel okay about the situation. First off, it's only a CHANCE that I could develop these problems, and an unlikely one at at that. My doctor said they get about three false-positive quad screenings a year and NONE of them have ever had IUGR/preeclampsia problems. (I like those odds!) So while the extra monitoring is annoying, it's just extra monitoring. At least I get to see the baby more with extra ultrasounds.

Baby is doing really well, kicking up a storm and growing well. Let's hope this continues! And for what it's worth - I would suggest to anyone not to get these tests. Not worth the stress of having a false positive.

1 comment:

  1. We opted out of the genetic testing for this very reason. I suppose it helps to be prepared if there is an issue but we decided to take everything day by day with these babies. My goal is to remain as stress free as possible! I'm glad the Maternit21 test gave you some clarity...it's all so much to take in!!