Why does prenatal testing exist? Perspectives from a parent of a child with Down syndrome

Today’s guest post is by Kristina Artuković. Kristina has masters degrees in philosophy and philology. She is also mother to a child with Down syndrome.

Brief background: Down syndrome is a condition caused by an extra copy of our 21st chromosome. An extra copy of a chromosome is called a trisomy, which is why Down syndrome is also known as trisomy 21. Women over age 35 are more likely than younger women to conceive children who have genetic conditions such as trisomy 21.

There’s a riddle out there reserved almost exclusively for parents of kids with Down syndrome: how do you respond to the question “Haven’t you had those tests?” The questioner is referring to prenatal screening tests that can indicate Down syndrome.

[Read the related Salon.com article: “Didn’t you get tested?”]

Both the implication of the question and sheer number of times we hear it while our kids are little indicate that the prenatal screening pathway predominantly serves to terminate babies with disability, at least in the minds of the vast majority of people. This pathway includes:

• 1st trimester combined screening. Typically, this non-invasive screening is done between weeks 11 and 14, and includes a blood test to measure the levels of pregnancy-specific substances in the mother’s blood, combined with an ultrasound. The results are provided in the form of a probability ratio, meaning this is a presumptive tool, not a diagnostic one. All results that are higher than a cut-off indicate a need for further testing. 

• NIPT means non-invasive prenatal screening. It can be done from week 9 of pregnancy. It analyzes small amounts of placental DNA present in the mother’s blood. NIPT has better detection rates than combined screening, but it still does not provide a definitive diagnosis.

• People who receive high-probabilty results of either above method are usually advised to undergo amniocentesis. This is an invasive procedure that carries a risk of complications, including miscarriage. It involves taking a sample of amniotic fluid and analyzing the baby’s chromosomes. Amniocentesis does provide a definitive diagnosis. It is offered between weeks 15 and 20, meaning abortions following a diagnosis usually take place in the 4th month of pregnancy.

Not long after his retirement, renowned genetic counselor Robert Resta wrote a refreshingly honest paper called “Prenatal testing – what is it good for? A review and critique. The paper provides a comprehensive an informative overview of prenatal testing, analyzing its five most commonly stated goals: 

1. Preventing genetic disease, 
2. Avoiding suffering, 
3. Reassuring parents, 
4. Preparing for a disabled child, and
5. Supporting choice.

1. Preventing genetic disease.

This part contains the most valuable takeaways. Medical providers determine whether to offer amniocentesis and first trimester screening based on several factors, but a major one is whether the mother is at least age 35. This time frame is designed around termination. Firstly, the cut-off was set at the point where the mother’s age is associated with a higher probability of a trisomy than the probability of fetal loss associated with amniocentesis. This cut-off was not set in consideration of the survival of babies with genetic conditions; their survival has been rendered medically irrelevant. Secondly, the cut-off was set at the point at which the costs of prenatal testing become lower than the projected costs of caring for people with Down syndrome; this calculation is based partly on the prevalence of fetal Down syndrome in higher-risk moms. In other words, according to this approach, the non-survival of babies with Down syndrome is economically and systemically preferable. This discriminatory agenda in the form of cost-effective reduction has been at play for years and is still at play today. Resta compares the medical costs of caring for people with Down syndrome against the costs of caring for people with other conditions that can’t be screened prenatally. Because the costs are similar, he concludes there is no logical reason for this “cost-effective reduction” of people with Down syndrome. But in this conclusion, Resta is too optimistic; the motivation for “cost-effective reduction” is to allow a legal “opportunity” to have the bearers of disability killed.

Nonetheless, Resta thinks eradication of the Down syndrome population is unlikely: not all women go through prenatal testing, and the number of mothers above 35 is increasing, which increases the occurrence of trisomy 21. He also notes that increased stigma surrounding abortion and decreased abortion access could increase the population frequency of Down syndrome. Finally, Resta cites the longer life expectancy of people with Down syndrome as a reason the population will continue to exist, which is slightly bizarre, since we’re speaking in terms of live births. 

I believe Resta’s arguments are all moot, for two reasons. First, the use of non-invasive prenatal testing is on the rise, and the higher number of resulting terminations currently neutralizes the higher occurrence of Down syndrome live births due to higher maternal age. Second, the latest trends in national healthcare policies point towards replacing first trimester screening with NIPT for any pregnancy, as in the Netherlands, Belgium and, as of 2022, Germany. NIPT is more accurate than combined screening and less invasive than amniocentesis, so we can expect a higher number of women to undergo prenatal testing where NIPT is available. Wider adoption of NIPT will result in a much higher detection rate across the entire pregnant population. When NIPT became available on the global market, the number of babies with Down syndrome being born per year decreased by an average of 54% in Europe and 33% in the US–and these statistics were even before national healthcare programs began implementing NIPT more widely. In the UK, hospitals that introduced NIPT only for “high-risk” pregnancies saw the number of live births of babies with Down syndrome drop another 30%. Imagine the continued decrease if NIPT becomes a standard offer for not only high risk pregnancies, but all pregnancies. 

2. Avoiding suffering.

The use of prenatal testing for avoiding suffering, Resta concludes, is problematic since it is impossible to objectively measure someone else’s suffering, especially for congenital conditions. 

3. Reassuring parents.

Resta also dismisses the goal of reassuring parents about the baby’s health, since, he argues, the existence of prenatal testing actually creates the stress for which it then offers reassurance. This “reassurance,” he notices, is the key marketing message for NIPT, whose global market value is estimated to skyrocket to at least $11B by 2030. I could not help but be reminded of the epic “Cash Cow” video. 

4. Preparing for a disabled child.

Medical and emotional preparation is an indisputable goal, since many genetic conditions may require additional care both during pregnancy and after birth. Resta insists that these positives should be better backed up by research. I think that if prenatal testing were ever to lose public favor (and thus market share and widespread implementation), interested parties could point to the preparation angle to whitewash the negative impacts testing actually has on the Down syndrome community. In addition to that, such data might come in handy for appealing to more reluctant customers. 

Yet, in contrast with the rosy image of parents receiving full support to prepare for their special needs child, a survey conducted by Down Syndrome Australia found that almost half of families who received a Down syndrome diagnosis were pressured to terminate the pregnancy. Similar research out of the U.S. has found that 23% of physicians report choosing to emphasize the negative aspects of Down syndrome or directly urge parents to terminate (see 37:33 in this presentation). 

I speak from experience when I say the way in which the medical community leads parents through the Down syndrome diagnosis process is incredibly biased. The conversation is riddled with scary terms like “abnormality,” “defect” and “risk.” Cases where providers give balanced information about the baby’s condition are sadly not the norm. Providers often deliver the diagnosis as bad news and then offer abortion. Indeed, parents who choose to welcome their baby with Down syndrome are often repeatedly offered abortion, sometimes until the very end of pregnancy. In my case there was enormous tension in the healthcare environment as medical practitioners tried to make my husband and I feel foolish and uneducated for wanting to keep our baby. This is traumatizing. It sends a clear message that the medical profession and perhaps society in general deem our child less worthy than other children. So, before advertising prenatal testing as emotionally and medically beneficial for parents who want to keep their babies, perhaps we should first address the terrible trauma the medical community’s reaction to these tests can leave.

[Read more: When she got a prenatal Down syndrome diagnosis, her doctor wouldn’t stop suggesting abortion.]

5. Supporting choice.

Resta subscribes to the goal of supporting parents choosing to avoid raising a child with a disability, which is a central argument in the new narrative on prenatal testing. This goal means enabling those who are inclined towards disability-selective abortion prior to testing. A simple look at the number of termination rates resulting from prenatal testing indicates that it serves almost exclusively for aborting disabled babies. For example, the termination rate for pregnancies diagnosed with Down syndrome is 67% in the US and 92% in Europe. Termination rates for other life-compatible congenital conditions like spina bifida, Turner syndrome, and Klinefelter syndrome are also obscenely high. 

Invoking the usual arguments of abortion apologetics, Resta defends this idea of “supporting choice” with terms like “highly situational,” “personal,” “extraordinary difficult” decision, “societal support,” “resources,” and so on. But there are several issues here. 

First, people who have carried pregnancies all the way up to prenatal disability diagnoses are usually carrying wanted pregnancies, undermining any situational arguments; they felt prepared for a child, they just have certain discriminatory preferences. 

Second, the decision to abort because of disability cannot be branded as “extraordinarily difficult” when people undergo prenatal testing with the intent to terminate a disabled child — such a decision is premeditated. What is perhaps difficult to some people is that they mourn the child they did not get, while the one they have becomes a problem solvable by abortion. 

Third, the “lack of support” argument is regularly invoked in the debate about disability-selective abortion, just like in general abortion apologetics. However, parents are usually terribly uninformed about available resources. Many misinterpret the prevalent negative attitudes among healthcare providers as a signal of a lack of support available. Some are even misled. My husband and I were told almost every parent eventually leaves their child with Down syndrome in an institution (a blatant falsehood). In contrast, no one mentioned to us that our country provides up to five years of paid parental leave to care for a child with a disability.

The fact is societal support has been on the rise ever since the beginning of deinstitutionalization. But every ounce of this support has been hard won predominantly by parents and self-advocates who stood against prejudice, including the discriminatory and often coercive behavior of healthcare providers. 

Prenatal testing isn’t supporting all parental choices, but instead promoting one very specific choice: disability-selective abortion. In fact, disability-selective abortion would not even be possible without prenatal testing. This testing then appoints itself the provider of the “support” for this choice — building its own market and backed up by a strong eugenic bias in the healthcare system and society. 

[Read the related Friendly Atheist article: “Richard Dawkins: It’s “Wise and Sensible” to Abort Fetuses with Down Syndrome”]

Nonetheless, Resta concludes that prenatal testing is best justified as a means of supporting people inclined to terminate on the grounds of disability, and as a tool for providing medical and emotional preparation for the minority of parents who undergo testing though they aren’t interested in termination. With this rationalization, I suppose our healthcare system might as well continue supporting and promoting disability-selective termination by broadening the scope and increasing the accuracy of prenatal testing. This “private decision” narrative is so successful, some proponents of newgenics are framing disability-selective abortion positively, calling this superficial shift “liberal eugenics.” The UN Special Rapporteur on the rights of persons with disabilities disagreed, giving this term a negative connotation when she said that “the aggregate effect of many individual choices are likely to produce eugenic outcomes.”

This pattern demonstrably does produce eugenic outcomes. In an environment that allows and normalizes abortion, any technology that provides an insight into baby’s characteristics will inevitably be used as a means of “choosing” between the children: one alive and developing, and another existing as an (imaginary) personal or systemic ideal. When it comes to abortion, this lethal discrimination in favor ableism, racism, or sexism is an inherent part of the “choice.”

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