Some Prenatal Genetic Tests For Rare Disorders Are Wrong Up To 90% Of The Time

You get the positive pregnancy test. You take another, and it’s positive too. Some women already know they’re pregnant by the time they take the test, others just aren’t sure, but the rush that comes with getting pregnant is filled with joy, anticipation, and also fear.

By Jessica Marie Baumgartner6 min read
Some Prenatal Genetic Tests For Rare Disorders Are Wrong Up To 90% Of The Time shutterstock

What if something goes wrong? What if my baby’s not healthy? What if I give birth to a space alien? These are all healthy, natural concerns… well, it’s highly unlikely that you’ll give birth to a space alien, but I just wasn’t sure. Sometimes our imaginations run away with us. I like to have a plan A, B, C, and all the way through the entire alphabet to prepare myself for the worst. 

After having four kids, I can say, you never stop worrying. Even with the fourth baby, all those fears resurface the second you know they exist. I just kept myself busy and did everything I could to exercise, drink water, and eat right. I prefer more holistic methods and didn’t do any testing, ultrasounds, or sonograms, and had home births.

But when my sister got pregnant, the suspense was unbearable. She opted to get every genetic test done for her first baby because she just had to know if something was wrong.

A lot of parents do this. It’s become a standard protocol that helps detect genetic defects to give parents options moving forward. But what happens if these tests are wrong?

Genetic Testing Accuracy Varies

The New York Times recently asked this question and found that some of these tests are incorrect between 75-90% of the time. Those are horrible odds when it comes to evaluating anyone’s health. 

The article in question specifically investigated five popular microdeletion tests, and their findings are alarming. Among the health-related issues screened for were Down’s Syndrome and DiGeorge Syndrome. Both have been known to cause life-long difficulties and extensive medical needs.

What’s most concerning about false positives for these tests is that they are not regulated by the FDA, and so their credibility is based solely on the companies that make, distribute, and process them, along with the doctors who promote them.   

Prenatal genetic tests are not regulated by the FDA.

Now, the companies that make these tests — which profit highly on advertising their benefits — of course, don’t give any notice of the prospect of inaccuracies. They merely advise women to discuss their results with their doctor. 

Having interviewed doctors and nurses, and discussed health practices a LOT during the pandemic, I’m well aware that doctors, in particular, are always concerned about their reputations, and so they’re more likely to go along with what other doctors say in order to keep a higher standing. That’s not to say that they don’t believe these tests can be helpful, but if they question them, they often keep that to themselves.

I questioned the validity of genetic testing because I thought: And what should I do if something is wrong? I can’t change it. I will have my baby regardless because I had a horrible abortion experience and will never do that to myself or another baby ever again.

My sister and her husband had a different, but more common perspective. They believed it would be more humane to terminate a pregnancy if the baby were going to suffer from a serious genetic defect. Our differing approaches perfectly lay out just what genetic testing is often used for. 

How Parents Utilize Genetic Test Results 

The idea of having a sick or genetically deficient baby terrifies most parents. At some point during a pregnancy it slips into most of our minds. It’s a healthy, natural fear that offers us a choice: We can accept that we’re imperfect mortal beings who can’t control everything that happens in life, or we can worry, think of solutions to solve this “problem,” and grasp at medical answers that give us a better sense of security. 

Neither approach is wrong. Everyone is different and will react in different ways, and plenty of parents probably fall in the middle of both or just lean a certain way.

My ex-husband’s sister found out about her son’s heart defect through genetic testing. Her husband is a nurse, and so they looked into their options and made plans to have the baby rushed off to surgery as soon as he was born. The baby had to have the left ventricle of his heart completely reconstructed. 

It was heart-breaking not just for him, but for all of us. After the surgery, there was a point where he wasn’t doing well and they were sure he wasn’t going to survive. But, he lived. He’s now a happy 9 years old. He has had numerous surgeries and needs to be on medication. The doctors said, “Now he’ll probably be very calm and a little quiet,” but he proved them all wrong. He is a hyper, loud, fun boy who chases his cousins and enjoys playing sports. This is what I think of when I hear about genetic testing. 

Although I didn’t want to have any tests done, because I trust in my faith and didn’t want anyone trying to convince me to have an abortion if something was wrong, I supported their decision and am so happy for the results. Making medical decisions for ourselves is tough enough; having to make them for our children and unborn babies is even worse.

Which brings me to the other side of genetic testing. The darker one. A lot of women not only decide to use positive genetic defect results as a reason for abortion, but health care providers encourage it. The philosophy that “it’s more humane” has been touted by abortion providers like Planned Parenthood, alongside reasons like mothers “just don’t want to be a parent” and “They want to finish school, focus on work, or achieve other goals before having a baby.”

Some women use positive genetic defect results as a reason to abort, and doctors encourage it.

It’s seen as just another “inconvenience” that makes a baby a problem instead of a living being who can suck his or her thumb, yawn, and make cute faces by the time many genetic tests can be performed. In addition, it has been theorized that they can feel pain at this point. 

The medical community is uncertain as to when a fetus can feel pain; some claim it’s during the third trimester, others believe it’s between weeks 7 and 15 (being that this is when the nervous system really comes into play), but it’s in the second trimester where the neural activity really indicates a definite ability to register pain. And no matter what our thoughts on when life begins, we know — deep down — that it is wrong to knowingly inflict pain on helpless beings. 

What Incorrect Genetic Test Results Really Mean

Why does this matter? Who cares why a woman gets an abortion, it’s “her body, her choice,” right? 

It matters because even if a baby is sick or genetically deformed in some way, there’s a point at which we can’t deny that they’re human beings, and all human beings are created with inherent rights. So the argument over when a life is a life really comes into play for parents who consider aborting a baby in the second trimester merely because it may be born with special needs. 

Furthermore, with this new evidence of incorrect medical testing, the morality and medical responsibility needs to be taken into account. There’s no telling how many healthy babies have been aborted because the mother thought it was genetically unhealthy, mothers who believed in the science, their doctor’s advice, and the tests, who potentially killed their babies (whom they wanted) because they didn’t know the tests were wrong and were taught that death is more humane than a life of disability.   

Dehumanizing a baby who would be valued if healthy hosts moral and scientific dilemmas. 

Imagine if it were considered more humane to kill a baby because it was female? This happens in other countries all the time, but in the U.S. there would be outrage. What if being born a minority were considered inhumane because of the struggles the baby might face in life? Should all minorities be aborted? Certainly not. That would be genocide. 

Dehumanizing a baby who would be valued if healthy, just for being sick, may host a whirlwind of other issues and complications, but also moral and scientific dilemmas. Who is to say what is meant to exist? Is that truly up to us?

How we answer can’t change the fact that these little beings can suck their thumbs and may feel pain around the stage when these tests are confirmed. It doesn’t change the fact that they can move, and may even try to get away from suction abortion devices, as reformed Planned Parenthood worker Abby Johnson cited to be her turning point when she realized that what she was doing was wrong.  

Positive Results from Positive Results

I must reiterate here that the New York Times article only focused on five specific tests. Certified genetic counselor, Ellen Matloff, did write a response pointing out that these are not the only tests available, and that her area of expertise is more complex than just finding a result and making parents decide whether to abort their babies or not. 

But in truth, many expectant mothers get these tests done to make a choice. And their choices are based on the results, and abortions are performed based on their choices. 

Thankfully, some women took their positive results and did something positive with them — they used suggestions to abort their babies as a reason to love and nurture their babies even more. As one mother wrote,  “I found out my baby has Down syndrome four months into the pregnancy. When doctors told me, they made it sound like bad news, they made it seem like such a terrible thing. That really did scare me and made me think about the diagnosis in a negative way. They offered me termination and reminded me I had that option every week until I passed the last date. They even scheduled an appointment to discuss a termination without my consent. I felt like the life of my child was not supported, and I felt pressured to terminate. It’s really sad that I was almost convinced to abort because Noah lives a happy and healthy life. Having Down Syndrome is not the end of the world, and it’s not a curse or a punishment, it’s actually a blessing. It’s what makes Noah special, and we see it as something good rather than something bad.”

Another mother opened up about a similar situation: “I am glad that I was told that I should abort my baby with Down Syndrome,” and went on to explain, “The grief process for me involved facing my own internalized ableism. That is, facing all of the prejudice regarding disability that I have – because even as a person with disabilities, I have ableism – it was sucked into me through cultures I was raised in, through belief systems, through my own struggles with living in an inaccessible world that didn’t see value in the way my body or brain functions.”

“My doctors refused to offer me actual information about Down Syndrome, all the while bandying words like, ‘burden’ around.”

She went on to state, “I don’t think doctors should be encouraging any mother to abort her child. I am angry that my doctors refused to offer me actual information about Down Syndrome, all the while bandying words like, ‘burden’ around. I want laws with teeth that with hold these doctors accountable for their words.”

Some lawmakers agree with this sentiment. Currently,  36 states have enacted or introduced Prenatal Nondiscrimination Acts (PRENDAs), which “prohibit anyone from knowingly aborting the unborn child of a woman who sought the abortion solely on the basis of an inherent characteristic (such as the child’s race or sex) or a prenatal diagnosis (such as a genetic or chromosomal abnormality, e.g., Down Syndrome).” 

Closing Thoughts

Genetic testing can help parents prepare for and nurture their children’s health needs, but the ugly truth is that they often serve as a method for determining whether or not an unborn baby will be aborted. As the morality of this act brings up concerns about eugenics and human rights, the fact that some very popular genetic tests are most often incorrect proves that not even “the science” can always be trusted when determining the fate of another being. 

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