Last week, I was went through an extensive medical/family history report with the nurse at my OB/GYN office. Seriously, the list of questions took almost an hour to answer! Afterwards, she presented me with a folder full of information that we talked about and I later went home and read with Tony in detail.
Included in that packet of information were three pamphlets: "First Trimester Screening", "Cystic Fibrosis Testing", and "AFP Tetra". I suddenly found myself very confused... to test or not to test? The question wasn't just "Does my insurance cover this?" (which it may not), but "Do I really want to know the results?" and "Will it make a difference?". I also began to wonder what other people do. I even asked the nurse that day, and she said it's just up to the couple... everyone makes their own decision.
So here's what was in the pamphlets...
First Trimester Screening is a fairly new procedure that they now do at Duke Hospital which is a combination of maternal blood testing and ultrasound measurement to screen for Down syndrome and trisomy 18. It is 80 to 90% accurate in identifying Down syndrome and 97% accurate with trisomy 18. Sounds good, right? Except I'd have to hurry up and do it, since my first trimester is almost over (gasp!).
AFP Tetra is a maternal serum screening test for Down syndrome, trisomy 18, and open neural tube defect like spina bifida. Apparently, this test has been around for quite a while, and is more likely to be covered by insurance. Only difference is that they do not test until 15-21 weeks in pregnancy. And so I wonder, if you find out half-way through your pregnancy that your baby has a genetic defect, what do you do? Do people really abort their babies at 21 weeks? Another interesting tidbit... this test is only 75-80% effective in detecting Down syndrome, 73% effective in detecting trisomy 18, and 80% effective with open spina bifida. So, what about the other 20-25%?? When my students score an 80% on a test, I consider that to be low... an indicator that they don't really understand the material. Do I assume the same with this screening?
Cystic Fibrosis carrier testing determines the likelihood that Tony and I are to have a baby who could have cystic fibrosis. Both parents must be carriers of the gene in order for our child to be at risk. The carrier frequency for a single person is 1/25 (seems high, right?), but the carrier frequency for a couple is more like 1/841. That's more reassuring, I think. So, what happens if they determine we are both carriers? Do they recommend that we don't have any more children? Or do we register to win the lottery to pay the medical bills? I don't know.
So, I think it comes down to this... what would I do with the test results? I'm not sure. I don't know that I would want to spend the second half of my pregnancy freaking out about the fact that my child is going to have a birth defect. It's stressful enough just trying to figure out budgeting and make lists of what we're going to need by June. But, at the same time, I could get results that say everything is OK. And then, do I trust them? Again, some as low at 73% accurate! And, if I choose to trust the results, was it worth the hundreds to thousands of dollars to put my mind at ease? (By the way, my mind was totally at ease until they shoved these pamphlets into my hand.)
Well, Tony and I did discuss this for quite a bit, and I think we've concluded that we're going through with this pregnancy, no matter what. This is our first child, and we will make the very best of whatever situation is presented to us. Tony said that a friend/client told him, in a different context, "God would not give you anything you couldn't handle." Now, I'm not sure that I believe in Divine Intervention when it comes to genetic defects, but I do think that we are strong people and can handle most anything that comes our way. It may not be easy, but no one ever said life was easy.
While I think we've made our decision, there is clearly plenty of time for changing minds in regards to the latter two tests. I'd be interested to know what other people think, whether you've had a baby before, or not.
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4 comments:
my medical opinion and experience has been (at our hospital) that
1. Less than 1/3 of pts, even Caucasian, get CF testing;
2. 70-80% (if have early enough prenatal care) do the quad screen ("AFP tetra" in your program) at 15-20 weeks.
3. Less than 20% do first trimester screening... this is usually if you are at increased risk for genetic abnormalities such as advanced maternal age (which is considered 35!! yikes! you won't be but i probably will!!!)
I'm glad you feel that you will "go through with it" no matter what, but i don't think that's a reason not to do screening... for you are, my dear (as I am...) a planner.
And I want to know why us residents are stuck doing all the past medical history stuff... why can't we get some nurses to do this for us like in NC? :)
Laura & Tony,
No matter what, this baby is going to be an amazing addition to all of our worlds, and there will be unconditional love for him or her regardless.
Last year I heard an amazing description of what it is like to have a child with Down's syndrome. I found it online and have pasted it below:
"Welcome to Holland"
by Emily Perl Kingsley
"I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this...
When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."
"Holland?!?" you exclaim. "What do you mean, Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."
But there's been a change in the flight plan. They've landed in Holland, and there you must stay. The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine, and disease. It's just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you never would have met.
It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around...and you begin to notice that Holland has windmills...Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy...and they're all bragging about what a wonderful time they had there. For the rest of your life, you will say, "Yes, that's where I was supposed to go. That's what I had planned."
And the pain of that will never, ever, ever go away...because the loss of that dream is a very very significant loss.
But...if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things...about Holland."
So I guess the bottom line is, if you want to know your exact destination then I would encourage you to do the testing. If you are up for not knowing your destination and the tiny-tiny chance of not arriving in Italy...then don't do the testing.
Laura & Tony--I love you both and hope that this sheds some light on the subject. Just follow your heart.
Much Love,
Laura B.
All I can say is I admire the courage and excitement you and Tony are showing. Personally it seems to me you have made the right choice. OK, my step-monster's half-brother is 8 and he's been totally blind since birth and he has Asberger's and autism. But he's the most incredible child you will ever meet, and in his mind there's nothing wrong. He told me once in a store that instead of his eyes, he has a special cane to see where he's going. Just like that. Any baby is special, but it takes people even more special to be "parents." How's that for insightful? Ever thought something like that would come from me? ;o)
stephanie
We opted not to do testing, because 1) we knew we would continue the pregnancy no matter what and 2) I didn't want to spend the last half of my pregnancy worrying about something that might not even be an issue. But I think this, like every other issue when it comes to parenting, is just a matter of what works for you and your family.
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