Several months ago, pregnant with my second baby and at my 16 week appointment, I thought my biggest problem that day was that I have no veins. Literally. I have a port implanted in my chest for IV access because I have chronic health problems, and my veins have been completely used and abused. They get blood out of my knuckles now; that’s their new trick. “Vaginal bleeding?” both the nurse and doctor ask me, after routine weight and blood pressure checks. No, I respond, and get instructions to visit the lab and come back in a month. Bleeding is basically all they care about at this point in a low-risk pregnancy.
With our first baby we did the Tay Sachs and Cystic Fibrosis tests, in addition to everything else. This time it was just the “everything else.” I had heard of friends who had had this new “magic testing” at 8, 9, or 10 weeks, but they were all over 35 or had some kind of family history or increased risk of genetic disorders, so I had my second trimester blood test, went on my merry way, and really never thought about it again. Every test during my first pregnancy, and my first trimester blood work for this second pregnancy, all I ever heard was “normal.” Not this time.
The nurse called and said something that she tried to make sound innocuous, but obviously wasn’t. An increased risk of Down syndrome. A 1:300 chance. Now, I get that a 1:300 chance means that there is a 299:300 chance that my baby is fine, but when you find out that normal is a 1:multiple thousands chance, that’s when the tachycardia sets in.
What now? Well, you could have an amnio, they inform me pleasantly. That has a 1:270 risk of miscarriage. No thanks. Oh, and there’s also that “magic test” that has an actual name. It’s called Non-Invasive Prenatal Testing (NIPT), and it is still technically a screening test, but it is far more accurate and there is no risk to the baby or mother. Sign me the hell up, thank you very much!
After meeting with a genetic counselor, whose actual job title should be “Dr. Doom,” I gave my knuckle blood and went on my way. Not so merry this time. It was THREE LONG WEEKS of no sleep, lots of crying, what-ifs, trying to distract, and Googling. Oh so much Googling. Yeah, this test takes THREE LONG WEEKS to get results. I know that at some point during that time, after reading article after article that my baby was probably healthy, and message board after message board that he or she probably wasn’t, I Googled the actual question, “Does my baby have Down syndrome?” If that’s not nuts, I don’t know what is.
During those three long weeks, the few people I told either knew someone who, or had themselves had, a scary result on a prenatal screening test. I mean, I know Jews tend to have an increased risk of genetic disorders, but to have every single person have or know of a horror story is pretty exceptional, and even crazier is that everyone who told me a story…that baby turned out to be 100% healthy.
So was mine. After three weeks and no sleep, Dr. Doom called with wonderful news. A healthy baby!!!!
But what was wrong? Why had my first baby had a 1:10,000 chance and this baby had a 1:300 chance? That’s quite a difference.
Do you know what she told me? That over 90% of positive screening tests are false positives. Ninety percent! And then, the majority of the 10% that aren’t false positives could be positive for any number of factors, and likely not even actually positive for what they are testing for. But OVER 90% are just literal testing errors. Seriously???? Do you know what my last three weeks were just like???? How can this be good medicine, to use an obviously extremely flawed test on pregnant women? It’s not as if we don’t have a better option now. I mean, I get it—they didn’t even used to have ultrasounds, but now we have a better “magic” screening test and they only rarely use it. Why?
At my next routine appointment, after I broke down slightly (OK, fine, not slightly) with my doctor, I asked her just that question. The NIPT, which has been studied and even reported by the New England Journal of Medicine to be much more conclusive, have higher sensitivity and predictive value, and a much lower false positive rate is, you guessed it…very expensive. Figures, but you’ve got to be kidding me. You know what else is expensive? Psychotherapy!
In all seriousness, I hope that we are close to the end of the use of standard prenatal screenings, and that NIPTs will soon be used for all pregnant women who choose to have genetic testing performed. With the massive false positive rate of standard screenings, and a better option available, the stress it puts on families is just unnecessary. I know that if we decide to add to our family (relax, everyone, we haven’t made any decisions yet), I know that I will fight for a NIPT.
All I can say now, though, is please, if you have a standard screening and it comes back positive, try not to lose your mind. Yeah, right. I know.