Does Genetic Prenatal Testing Actually Put Babies at Risk?

Highly inaccurate prenatal genetic testing is resulting in more abortions.

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With the release of the Supreme Court’s Decision in the Dobbs case and the overturn of Roe v. Wade, abortion is now limited in at least 26 states. While those in the prolife camp celebrate, many are questioning what these new limits will mean for other aspects of women’s healthcare. One of these areas is relatively new genetic screening technology that allows physicians to flag markers for various disabilities early in pregnancy with a simple blood test. These noninvasive prenatal tests (NIPTs) are the same tests that allow parents to learn the sex of their baby in the first trimester.   

As exciting as it may be to have access to this information about twice as fast as the standard 20-week anatomy scan, parents have reasons to be cautious. The primary purpose of these tests is not to determine gender but rather to rule out genetic conditions. These genetic screening tests are routinely offered to pregnant women and often covered by insurance, despite being unregulated by the FDA. According to standard of care, any results must be confirmed by additional diagnostic tests such as ultrasound or amniocentesis later in pregnancy. In practice, however, it isn’t playing out this way. 

Many women who receive a positive diagnosis for their babies choose abortion without undergoing appropriate diagnostic testing. This is the medical and financial rationale behind offering these early tests in the first place; it is “easier on the mother” and less expensive to abort earlier in pregnancy. It is certainly less costly to the insurance companies than providing medical care for disabled children of mothers who choose to continue their pregnancies. 

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The slew of new laws in place restricting abortion to the early weeks of pregnancy (if they permit it at all) may change the way these screening tests are used. Alone, the results are not diagnostic. Still, parents who see positive markers may feel pressure to abort potentially disabled children while they still can, despite the fact that positive results on these screening tests are, as studies are just revealing, almost meaningless. 

The New England Center for Investigative Reporting found that these tests are, tragically, resulting in hundreds of abortions of healthy babies. Despite claims of “99 percent accuracy” by the companies that make them, these tests are proving to be wildly inaccurate. Studies are now showing that the likelihood of false positives is incredibly high—about 85 percent. For some rare conditions, the likelihood of a positive result being inaccurate is even higher at 93 percent. 

Women whose babies receive positive NIPT results are far more likely to spend months agonizing over a false diagnosis than they are to receive helpful information. Clinically, there is rarely any treatment that can be offered in utero for the conditions tested for by NIPTs. The benefit of “time to prepare” for possible special needs is available through more reliable diagnostic testing such as ultrasound and amniocentesis. 

Given the lack of available in utero interventions and the necessity of other tests to provide an accurate genetic diagnosis, there appears to be very little benefit to early genetic prenatal testing. In a curious medical paradox, there appear to be significant benefits to not knowing for both mother and baby. In some cases, women described prenatal genetic testing as “toxic knowledge.” The heightened anxiety caused by these tests can be a risk factor in developing pregnancy complications

Risks for baby are both clinical and social. When prenatal genetic diagnoses are accurate, these babies face significant discrimination. This happens on a large scale through eugenic elimination of populations such as that occurring in Iceland and sex selection in India as individual choices to abort add up to large reductions of affected populations. 

Babies with genetic diagnoses face discrimination even when they are wanted by mothers who choose to carry to term. Parents can feel pressure to abort from healthcare providers or face financial coercion as insurance companies deny coverage for prenatal treatment of mothers whose babies are diagnosed with Down syndrome or cystic fibrosis. 

The consequences are even more dire for women whose babies who are diagnosed with conditions such as trisomy 13 and trisomy 18 are deemed “incompatible with life,” a misleading term that creates dangerous bias in healthcare. These mothers must resist significant pressure and coercion from physicians to abort, despite the fact that in many cases these children do survive pregnancy and birth, living to age five and even older. A more accurate and less dangerous term for babies with these diagnoses, some ethicists argue, is “life-limiting.” 

When physicians regard conditions as “incompatible with life,” they fail to provide the same level of care for these infants. They are often denied basic life-saving treatments that are considered routine for infants without a genetic diagnosis. In fact, research shows that the likelihood of a newborn with a genetic diagnosis surviving long enough to be discharged from the hospital hinges on whether he received that diagnosis prior to or after birth.  When physicians regard conditions as “incompatible with life,” they fail to provide the same level of care for these infants. Tweet This

One 2016 study showed that for infants diagnosed after birth, 87 percent lived to be sent home with their families compared to the 47 percent who were diagnosed prenatally. This glaring discrepancy shows that forgoing prenatal genetic testing actually saves newborn lives; without the label, they have nearly double the chance of survival merely because they are treated like all other infants. 

No parent anticipates bearing the heavy burdens that come with a child’s serious genetic conditions. Most of us likely can’t imagine how we would bear it ourselves. When parents in these situations seek strength and reassurance to fight for their little ones, that support is unlikely to come from healthcare providers who are taught incorrectly to see these conditions as inevitably fatal. Instead, it comes from other parents and organizations unwilling to accept such a fatalistic view of these children. 

Organizations such as Be Not Afraid and Carrying to Term support families who carry to term after prenatal diagnosis; and, thanks to social media, many families facing these challenges are able to connect with one another for support and solidarity. Unlike the grim evaluation of their child’s life offered by healthcare providers, the witness of families bravely loving and providing for these children offers an alternative that can inspire families to weather the tough struggles of life with these disabilities. 

Even when the story has a more tragic ending, as in the cases of those newborns who do not survive to discharge, research shows that mothers who carry to term fair far better than those who choose abortion. Mothers who carry to term report significantly lower levels of grief, stress, and despair than those who terminate their pregnancies. They also experience a nearly universal absence of regret regarding the choice to continue the pregnancy. 

For parents seeking to determine gender early on but avoid further genetic testing, at-home kits may provide a good alternative. These, too, are unregulated, and costs will need to be covered out of pocket. Still, if the urge to taste that pink or blue frosting can’t wait until the second trimester, a home blood test can be a good option to predict gender without waiting for that ultrasound.

[Image Credit: Shutterstock]


  • Samantha Stephenson

    Samantha Stephenson is a Catholic wife and mother of 3, host of the podcast Brave New Us, and the author of the upcoming book Reclaiming Motherhood From a Culture Gone Mad. Follow her blog, Mama Prays, or sign up for her Faith + Bioethics newsletter to receive the latest updates on medical research, technology, and culture.

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