Thursday, December 10, 2009

1st Trimester Prenatal Screening

We opted to do the 1st trimester prenatal screening test for Down syndrome with this pregnancy. We did it in not just one but two blood draws, making it a sequential screen which results in a more accurate detection rate.

Here are a few excerpts from the genetic counselor's letter after our first meeting several weeks ago:
Ria is 31 years of age and was in the 12th week of her second pregnancy. She and her husband have a son, Matthew, with the trisomy 21 form of Down syndrome. They have a pre-existing risk for Down syndrome of 1 in 210 and for trisomy 18 of 1 in 1,072.

First Trimester Screening assesses the risks for both Down syndrome and trisomy 18 between 11 and 13 weeks gestation based on maternal age, nuchal translucency, hyperglycosylated hCG and PAPP-A. Studies have shown detection rates of about 83% for Down syndrome and 75% for trisomy 18.

We also discussed the option of a sequential screen. This assesses the risks for Down syndrome based on maternal age, nuchal translucency, blood work in the first trimester (hyperglycosylated hCG and PAPP-A), and blood work in the second trimester (AFP, hCG, uE3, DIA). Studies have shown detection rates of approximately 92% for Down syndrome and 90% for trisomy 18. The detection rate is 80% for open neural tube defects and is based on second trimester AFP only.

I had the second blood draw in my 16th week of pregnancy. The results came a few days after the second drawing showing the risk for my baby to have Down syndrome of less than 1 in 5,000 and a risk for trisomy 18 of less than 1 in 5,000. The genetic counselor says these numbers represent the lowest possible risk. The screening test doesn't give a "yes" or "no" result. We knew this of course. We also knew that whatever the results, it wouldn't change our minds about our baby. We just wanted to be "in the know".

What I didn't know was how unaffected I would feel about the numbers. The results of the prenatal screening test didn't mean very much to us, except to know how high or low our risk was to have another child with Down syndrome. Maybe I'd feel some sort of relief or happiness if I didn't have Matthew and had no idea about Down syndrome. That would be just natural, wouldn't it? But honestly, I was neither happy nor upset. They're just numbers. I'd feel the same way if our risk was higher. When we had Matthew, our odds were 1 in 1,100 - better than the odds for winning the lottery. These odds also don't tell us what other possible special needs our baby may have and we know every kiddo needs help with a few things here and there growing up. Every child is different.

Would I recommend the 1st trimester prenatal screening test to other expectant moms? Sure. Mainly because it's non-invasive unlike the diagnositc tests like CVS and Amniocentesis. It's a personal decision. Just keep in mind that this is a screening test that merely gives you odds, not a definite "yes" or "no", no matter how accurate studies deem it to be. I see it as another peek into "what could be", a chance to get to know my baby, and a chance to prepare for our baby's arrival - most especially if our 'risk factor' was higher.

In reality though, how can one truly be 100% prepared? There are so many variables in life. Down syndrome is not the end of the world. One of Matthew's greatest gifts to us is how he has opened our hearts and minds to the many possibilities in this world. This is something any prenatal screening test does not detect - the value of a life and how it will impact yours.


RK said...

First, yay for a new post from Ria!!!!

And I'm glad your numbers are good, although I agree with you about the numbers--funny how they are just that. Numbers. But it's good to feel informed...

Miss you guys...hope we can connect after the holidays!

Leigh said...

Hi sweetness,

Great news! and I need more cute pics!

And thanks for explaining what the testing entailed. I had no idea what was involved and didn't know with was only a risk test, not definitive.

Hugs to you.


Jill said...

dang, girl-nice to see you back! you were missed!!

TUC said...

Welcome back Ria... I was beginning to wonder of a Mafia Wars boss came into your real life and took you away :-)

Rochelle said...

Glad for the post and glad for your news.
Thankful you are doing well.

MaggieMae said...

I totally understand your reaction. Just numbers... like a gambler might consider before he lays his money down. And you know what.... since Matthew is such a gem, there's really no downside. It "is what it is" as they say.

Those are good odds any way you look at it, Ria. My money is on the fact that it'll be an awesome baby with wonderful parents and an incredible big brother! Congrats!

Monica Crumley said...

I missed your blog -- glad you dusted off the keyboard :-) I hope you're feeling well and that the baby is giving you lots of love kicks. :-)

To Love Endlessly said...

not sure why, but your blog brought tears to my eyes. You new baby will be just as perfect as Matthew. Thanks for sharing the letter, it was interesting to read "behind the scenes". and yep, just numbers that can't describe the joy a child, any child, can bring into your life.

Kelli said...

First of all, I wanted to say that Yay! I'm happy to hear from you again! I missed reading your blog :)

Second of all, CONGRATULATIONS! I'm so happy for you and your family!

Ria said...

Thanks for the warm welcome everyone! Glad to be back in the mood to write (and a little more energy to write), ie aside from taking out a Mafia Wars boss or tending my farm in Farmville or my cafe in Cafe World. hahahaa!! But seriously, thanks for continuing to follow my blog despite my absence.

Sandi said...

Ria, I missed your posts!!! Glad you are back on line.

I really liked the heart that I felt in this post. Just numbers.

I'm saving this post for our next parent 2 parent meeting... others will like to read it.

Thankful to hear #2 is looking great.

The Cooking Ninja said...

I was beginning to worry when I haven't seen any new posts from you for awhile. I'm glad all of you are fine.

When I had my daughter, I did an amniocentesis as it is the most accurate test of all. It's important that a couple can support and handle it together but in my case I know my husband will not be able to and will ultimately greatly affect our relationship and child. I appreciate his honesty with me and acknowledging his limited abilities to accept and assume.

M.Hilton said...

Congratulations on your baby-girl to be! And sincere thanks for this post :)

Anonymous said...

I recently came accross your blog and have been reading along. I thought I would leave my first comment. I dont know what to say except that I have enjoyed reading. Nice blog. I will keep visiting this blog very often.