Monday was my sister's ultrasound. She's just turned 29 years old and is 18 weeks pregnant. She got her quad screen results last week, which bumped her from a 1 in 750 chance of having a baby with Down syndrome (based on her age and the fact that her sister has a child with Trisomy 21) to a 1 in 3500 chance. About the best result she could have asked for. The ultrasound showed a healthy fetus, with a well-formed heart and gut, and found no hard or soft markers for Down syndrome.
Except.
The "specialist" told my sister about a tiny, bright area on the heart. An enhancement. An echogenic intracardiac focus. A tiny calcium deposit. It turns out that these happen in up to 10% of typical pregnancies, and usually resolve themselves by sometime in the third trimester. This is not considered a birth defect or any sort of health risk. No biggie.
Except that in women who are over 35, have a questionable quad screen result, or have other "soft markers" for Down syndrome on the ultrasound, it can indicate an increased risk.
My sister does not meet these criteria. Further testing is not indicated, nor is genetic counseling, apparently, and she is adamantly opposed to having amnio. But now she has to go through the rest of her pregnancy with this cloud of doubt over her head.
Why? Why?! Because some doctor was so worried about covering his butt, or not getting sued, that he felt like he had to tell her this piece of "news" even though there's almost no chance that it's newsworthy. In a published study of 12,672 pregnant women, evaluated in the second trimester, "there were 479 cases of IEF and 11 cases of trisomy 21. Only one fetus with trisomy 21 had an isolated echogenic focus." Meaning that of over 12,000 pregnant women, only one woman had my sister's risk factors and was carrying a fetus with Trisomy 21. That's a pretty small risk, indeed.
It turns out that there's a pretty good chance of one of these "soft markers" showing up on a typical ultrasound, and these "soft markers" are often more common in typically developing fetuses than in fetuses with Trisomy 21. So if doctors just drop these little bombs on pregnant women without qualifying them, we end up with a whole lot of upset families. And possibly some unnecessarily invasive testing and/or terminations.
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3 comments:
I can totally empathize with my little girl the doctor came in and said you have group B strep, so you'll need an antibotic during delivery and here's a brochure that will terrify the crap out of you. Meningitis, death all these things hanging over your head in the last few months of pregnancy. Sometimes I wish they'd spend a few moments to sit and talk to you about the associated risks and the probability. The brochure had me so worked up that everytime I got brackstin hicks 5 minutes apart I was heading to the hospital. I hope your sister does well and doesn't let it bother her the rest of her pregnancy.
Tina, I heartily disagree. The doctor said, "I read this article, and so I have to inform you . . . "
Doing a little research myself, the only article I could find online with the specific risks he quoted was an un-referenced Wikipedia entry. The peer-reviewed studies I found indicated no significant increased risk for someone in my sister's situation.
As a medical professional, the doctor's job is to do the research and have studies and statistics to support the counsel he gives patients. Patients can get online and read articles themselves, but they don't have the training, experience, and education to synthesize the information the way the doctor does. He is to act as a filter, separating needless fear-mongering from actual medical risks.
Amanda, exactly. It's beyond ridiculous to drop a medical bomb and leave a pamphlet, instead of sitting down and really helping the patient understand what's going on. Perhaps they forget that we don't deal with these situations all day every day.
PPB, yeah, exactly. I think anger is the totally right reaction here (for my sister) rather than worrying herself to a panic.
I too just had this bomb dropped on me w/ "your baby has an ICEF and pls pass the salt" from a specialist.I am freaking out now! So am i to worry away another 3 months til my delivery? (doing me and baby no good).I had read the OB Journal essay on Terrify a Pregnant Woman--thought it was excellent and so true. I also have had +GBStrep w/ all 3 of my pregnancies and didn't worry one bit b/c my OBdoc was so personal and talked me through it,we ran Antibiotics at delivery and both my children are 100%healthy. NOw i am worried about this IEF on my third. I like your comment on an OB should "filter" to seperate needless fear-mongering from actual medical risks! thanks for your post.
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