A Little Something Extra

Wednesday, October 17, 2007

Are we sure?

A lot of people out there seem to know of someone (or multiple people) who "were told their baby would have Down syndrome but the baby was perfectly fine." I know these statements are meant to encourage me. But here's the deal: I have not heard of ANYONE who was given an incorrect diagnosis of Down syndrome by an amniocentesis.

The problem is that there are lots of screening tests done that are mistaken for diagnostic tests. For example... there is a screening test called the "triple screen." This combines an ultrasound that measures the nuchal translucency (fluid level on the back of the baby's neck), along with bloodwork that measures AFP (alpha fetal protein), HCG, and estriol. This is considered a non-invasive screening. All of those measurements are combined together to determine the odds of that baby having certain chromosomal issues. So, for the woman whose likelihood of carrying a Down syndrome baby is 1:750 based on her age alone, the results of her triple screen might change her odds to 1:20. That is a "screen positive" result (as compared to her odds changing to 1:10,000). And if her AFP is especially low, for example, her doctor might tell her there's a very strong chance her baby has Down syndrome. BUT THIS IS NOT A DIAGNOSIS.

Go a few more weeks down the road and a level II ultrasound shows "markers" (soft or strong) for Down syndrome, her doctor might tell her that her risk is even higher. BUT THIS IS STILL NOT A DIAGNOSIS.

The only way to know for "sure" (99.4-99.99% accuracy) is to do a CVS or an amnio. These are invasive tests, meaning, a needle is inserted into the placenta (called a CVS, usually done between 11-14 weeks gestation) or into the amniotic sac (call an amniocentesis, done anytime after 15-16 weeks). I don't know as many details about a CVS.

But here's what we know about the results from our amniocentesis. The doctor who performed my amnio is one of the leading geneticists in the U.S. His lab is in his office (the amniotic fluid was not shipped out somewhere else). The lab was able to create 30 cells, all of which contained an extra 21st chromosome.

So are we sure? Yes, we're sure. So to pray for our baby to not have Downs is definitely to pray for a miracle from God, that He would remove that extra chromosome from every cell in our baby's body. Can we pray for miracles? Absolutely. Can we pray for healing and God's will regardless? Absolutely. And Jesus gave us the example that we can do so because He did on the cross. In Luke 22:42 He said, "Father, if you are willing, take this cup from me; yet not my will, but yours be done."

Okay, that was my technical post. I'll follow up with today's state of mind later.


Tom said...

Thanks for stopping over at my site; I hoping for the best for you and your family, with or without "the cup." I'll check back from time to time to see how things are progressing. In the mean time, if you're up to it, Downsyn has a great forum for questions that is helping me... just a thought. Take care...

Anonymous said...

From Rachel's Mom. Congrats on your little Angel. I work in a group home and have 3 clients with Downs Syndrome. Phil is my favorite, he is 44 years old and calls me his angel of mercy. He uplifts me when I'm down, opens the car door for me when I leave. And Says, "Praise the Lord, Alleluia, when things go well. Marylou, 47 yrs. is my assistant teacher in Sunday School. She loves children. I have learned so much from these special gift from God. Praise the Lord, Alleluia for Micha, Your Gift from God. Claire, RAchel Lend's mom