It’s About Time Someone Pointed Out What A Racket Prenatal Tests Can Be

prenatal-testing

Both of my pregnancies were “advanced maternal age.” I had my son when I was 38 and my daughter when I was 40. During both of those pregnancies, I heard many spiels about the varying types of genetic disorders children who emerge from an old, dusty womb were at risk for having.

The Boston Globe ran a story this week about the overselling of prenatal tests and the troubling outcome this is having for women. A range of these new tests have not been FDA approved and many doctors don’t even understand how to interpret the results. These revelations make the experience I had with the shit-show that is “advanced maternal age prenatal testing” make more sense.

The problem is, there is a huge difference between being able to detect a potential problem and diagnosing a life-threatening condition. These tests only do the former. Although their makers sell the tests on the basis that they are non-invasive and so much easier to go through than an amnio — any sort of positive result should still be verified by an amnio. This is where the information that pregnant women are getting is murky.

From The Boston Globe:

Sparked by the sequencing of the human genome a decade ago, a new generation of prenatal screening tests, including MaterniT21, has exploded onto the market in the past three years. The unregulated screens claim to detect with near-perfect accuracy the risk that a fetus may have Down or Edwards syndromes, and a growing list of other chromosomal abnormalities.

The tests involve a simple blood draw in a lab – no needle, no risk to the fetus. Hundreds of thousands of women have been sold the tests which studies have found perform better than ultrasounds or traditional blood tests to scan for certain chromosomal abnormalities.

But a three-month examination by theNew England Center for Investigative Reporting has found that companies are overselling the accuracy of their tests and doing little to educate expecting parents or their doctors about the significant risks of false alarms.

Two recent industry-funded studies show that test results indicating a fetus is at high risk for a chromosomal condition can be a false alarm half of the time. And the rate of false alarms goes up the more rare the condition, such as Trisomy”‰13, which almost always causes death.

The companies selling the tests are not making it clear enough to patients and doctors that these tests are not meant for diagnosing — only for screening for potential problems. The Globe story reports that there is some evidence mounting that a small percentage of women are terminating pregnancies based on these screening tests alone. The opens with an anecdote of a mother who almost did just that — before being talked into and amnio by her doctor. She gave birth to a totally healthy baby boy.

The screens are not subject to approval by the Food and Drug Administration. Because of a regulatory loophole, the companies operate free of agency oversight and the kind of independent analysis that would validate their accuracy claims. Doctors often get that information from salespeople, according to doctors themselves.

The tests were originally designed and marketed to older women and those at higher risk for a problematic pregnancy, but now some of the screens are marketed to all pregnant women. It is a business, after all. The Boston Globe reports “data indicate there have probably been between 450,000 to 800,000 tests performed in the United States since 2011 and several companies are racing to corner what one market research firm predicts will be a $3.6 billion global industry by 2019.”

When I experienced my prenatal testing, I definitely felt like I was on the receiving end of a sales pitch. When I turned down the “easy and non-invasive” Harmony test at 39-years-old, the lab tech looked at me like I was insane. She launched into a speech about the different types of genetic disorders it tests for and kept reiterating that I could only legally terminate my pregnancy until I was 24 weeks pregnant. When the only testing I agreed to came back “problematic” – I finally opted for what was sold to me as a test with 99% accuracy in detecting genetic abnormalities.

When the Harmony test came back negative, the lab tech and my doctors still encouraged me to get an amnio, because “although the Harmony test is 99% effective at detecting chromosomal abnormalities, the amnio is almost 100%.” That’s actually what they said to me. I couldn’t for the life of me figure out why they ever tried to sell the test in the first place since they were still going to recommend an amnio. It just was not explained to me.

There needs to be more transparency and information regarding these tests. We can’t expect already overwhelmed pregnant women to navigate some pharmaceutical company’s sales pitch. It’s just not right. The fact that women have terminated pregnancies that were completely healthy because these “screenings” are basically being sold as diagnoses to an untrained ear is just — wrong.

(photo: maxuser/ Shutterstock)

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