January 17, 2011

Is knowing worth the risk? Why amnio-caused miscarriages may soon be a thing of the past.

It's funny. There are always questions people ask when they find out a woman is pregnant.  One of them is whether it's a boy or a girl, which is promptly followed by a question about preference.  And inevitably, most women will say that they don't care if it's a boy or a girl, as long as it's healthy.

And while it's cliché, it is also very, very true.

I learned this when I was pregnant with my daughter.  My doctor asked if I wanted to take something called an AFP test.  Basically, it's a blood test that checks to see if there is a possibility that your unborn baby has a birth defect, such as Down syndrome. "Sure," I said without hesitation.  My doctor then began to tell me that many women forgo the test because it has such a high rate of false positives.  But I felt I had nothing to worry about and willingly gave my blood.

Fast forward a week or so later.  I checked my voicemail and my doctor (not the nurse or receptionist) had left me a message asking me to call him back.  And you know what?  I wasn't even worried.  Never once did my mind even go back to the AFP test.

I remember I was sitting on the floor of my living room.  I can still vividly see my husband sitting on the couch as he watched my face go from nonchalance to shock to absolute sadness.  I listened as my doctor told me that my AFP test had come back with a possible risk for Down syndrome. 

Anyone who knows me knows I never shut up.  And in that moment, on the phone with my doctor, I had nothing to say.  I remember tears fell silently from my eyes as I looked at my husband's confused face.  I listened as the doctor explained that this was just a POSSIBILITY...that the test does not mean my child HAS Down syndrome, just a risk for it.

It didn't make me feel any better.  We had to go in and have an ultrasound, where they would look for any markers indicating that my baby had Down syndrome.  Before we went in, we were told that if there were any markers, I could have an amniocentesis, which would give us a definitive answer.  But the amnio carried a risk of miscarriage and I could also end up losing an otherwise healthy baby.

My husband said we should not have the amnio if there were no markers.  Why risk the baby if there didn't appear to be a problem?  So I agreed.  And we had the ultrasound. And there were no markers. (Thank God!)

While we never had an amnio, I would be lying if I said I didn't want it.  For the rest of my pregnancy, there was this cloud hanging over me.  I would forget about the AFP test results and then the worry would come rushing over me. At times, I was consumed by fear. I just couldn't wait to have my baby in my arms so I could see for sure that he/she was alright.

And she was! 

I have a picture that was taken seconds after my daughter was put in my arms.  My eyes are closed and I'm kissing her forehead.  And I remember what was going through my mind.  "Thank you, thank you, thank you."

But soon, risky amnios may be a thing of the past.  A Chinese study found that new technology has been able to detect Down syndrome with a simple blood test.

No more needles through the belly.  No more deaths of otherwise healthy babies. 

Whether the results of the test matter is a personal decision.  I know that for my husband and me, it didn't matter if the child had a birth defect.  Termination was not an option.

But researchers say the blood test could one day be given during the first trimester.  And that may make it easier for a couple to decide whether to continue with the pregnancy.

Looking back, I wish I had listened to my doctor and never taken the AFP test.  Although my daughter is a picture of health, I can still remember the fear that occasionally ate away at my happiness.  So with excitement, I wait for the day when those long needles are put away and the knowledge about a baby's health can be found in a tiny vial of blood.

1 comment:

  1. I was in the same boat as you and your husband. Sort of. My husband is military and through the course of my pregnancy I was being seen at a military hospital. For military members and their spouses, the AFP or "Quad Screen" test is not an option, it's a requirement. I had read all about this test, knew how often false positives came up and tried to remain positive. Until, like you, my doctor called. I too had markers for Down syndrome.

    I had to make an appointment for the ultrasound and genetic counseling at another military hospital 1 hour away. They couldn't see me for 3 weeks. 3 weeks is an eternity when you are trying to decide what to do!

    My husband was (and still is) my rock. He let me cry, he let me yell, he let me cry some more. In the end, we decided that no matter what the outcome of the ultrasound, we were keeping this baby!

    My screening showed no markers for Down Syndrome. The genetic counseling results said that out of 268 women my age with my test results, 1 is carrying a baby with Down syndrome. If I was the 1, then was the 1. It didn't change our decision.

    My daughter was born 5 months later, purple, screaming, and the most beautiful thing I had ever seen.

    It makes me happy to know that for those women that NEED to know, there are alternatives to amniocentesis coming down the line. Knowing that those alternatives can be presented in the first trimester is even more impressive.

    Nikki, thank you for putting these issues up. I love reading your blog and look forward to the next installment of Mama on the Mic!