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Is There, and Should There Be, a Prenatal Test for Autism?

October 8, 2021


At first glance prenatal testing seems like the ultimate feat of modern medicine. But when reading about parents provided with knowledge and subsequent choices, a dystopian future where tests decide who gets to live becomes imaginable.

Is There, and Should There Be, a Prenatal Test for Autism? https://www.autismparentingmagazine.com/prenatal-test-autism/

Prenatal testing for autism is not widely available, and the ethical implications of such testing are enormous. When considering a prenatal test, parents and, let’s be honest, mostly mothers are put in a position to make an impossible choice. Those with a child on the spectrum, especially parents with an autistic child who needs constant care, mostly voice their reluctance to even consider a choice in embarking on a complicated parenthood journey that they’ve adjusted (and in some cases loved adjusting) to. 

A mother—staggering under the weight of societal expectation of caring and nurturing— choosing to abort an autistic baby (who society will remind her, may be born with high intellect and my capabilities) is also likely to deal with judgement, loss and the emotional aftermath of making such a decision.

Some medical practitioners have also expressed fear about the commercial angle of such tests driving premature acceptance. Because of the many genes involved in autism, a prenatal test may not be easily interpreted or explained. Parents not only want to know whether their baby may be autistic, they want to know the level of support the child will require, the consequences of raising a child on the spectrum, and if early knowledge of the condition is helpful. 

Most research examining intervention and treatment for autism spectrum disorder (ASD) in children recommends early intervention. Parents often wonder just how early this intervention can actually start. If a prenatal test for autism became routine, would an intervention program from birth or even earlier be more effective? And what exactly would parents be preparing for? 

Some experts believe parents with relatives on the spectrum, or those who already have an autistic child, should undergo genetic counseling before having (more) children. Perhaps we should all be better educated about what actually causes autism, the possible genetic factors involved, and heritability of the condition. 

It could also be beneficial for prospective parents to be offered the chance to speak to parents of children on the spectrum, and possibly also those who chose to terminate a pregnancy where autism was detected. Knowing more about the options available before choosing to undertake the journey may help parents make decisions; choices that will seem much tougher when they decide the fate of their fetus.


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What are the contributing factors to autism?

Some deem it offensive to speak of high risk factors when it comes to autism. Many autistic adults express pride in who they are; despite difficulties of living in a neurotypical world, they celebrate their unique talents and differently wired brains. These are mostly high functioning individuals (often possessing high intellect, and skilled at special interests) who are successful, with fulfilling lives. Perhaps referring to factors that may contribute to an individual being diagnosed with autism, or factors raising probability are more appropriate terms to use.

So what raises the probability of having an autistic child? Despite years of research, a specific cause of autism has not been determined and there is much debate. Instead research suggests that a number of influences may elevate the chance that an individual may be on the spectrum. These influences include mostly genetic but also environmental factors.

Genetic factors

Research has come a long way in the last 50 years. Before this, autism was “blamed” on mothers (medical history’s favorite scapegoats). Fortunately, science saved us from the refrigerator mom balderdash with a study that recognized the importance of genetics (Folstein & Rutter, 1977).

Not everyone agrees with what scientific studies have shown us about autism and genetics, but this study (Folstein & Rutter, 1977) is one of the most frequently cited and it turned autism research upside down by suggesting the highly heritable nature of autism. Larger follow-up studies concluded an even bigger influence of genetics, with more twin studies confirming the conclusions reached by Folstein and Rutter.

A large study (Bai et al., 2019) pertaining to genetic contributions to ASD, found the occurrence of autism to be mostly owing to genetic influences, with no evidence of contribution from maternal effects. The study (Bai et al., 2019) found direct heritability of ASD to be around 80% in the multi-national sample group. This means that findings support what many scientists believe about autism, that autism spectrum disorder is mostly due to inherited genetic influences. 

Heritability of autism and genes linked to ASD are important principles to consider when a prenatal test for autism is considered. Parents who have an autistic child may wonder about having another child and whether that child may also be on the spectrum. Research indicates a 17.4-fold increase of probability if the older sibling has childhood autism (Hansen et al., 2019) compared to unaffected families. Browsing through studies dealing with sibling recurrence rates of ASD, it seems research is finding an increasingly higher rate with each follow up study.

It makes sense that parents would want to know more about their fetus if they already have an autistic child. Unfortunately, research tells us that even doctors may have difficulty interpreting and explaining prenatal genetic testing to parents.

Other factors

Researchers believe that environmental factors may interact or work with certain genes leading to autism. Environmental factors are those that are not strictly genetic—some of these factors with suggested links to autism are: older parental age, fetal exposure to certain medication, and, serious infection or obesity of the mother during pregnancy.

These factors are not as well-studied as genetic factors, but it is important to consider when considering a prenatal autism test. For example if a mother is older at the time of her pregnancy (a factor associated with a higher incidence of ASD) should it be routine to offer prenatal testing? And if so, would it be useful and/or necessary? Some mothers feel they would be better prepared; some feel extended time to process the diagnosis would enable better bonding with an infant that defied their preconceived notion of parenthood.

Prenatal test for autism

Prenatal genetic testing for autism spectrum disorders are clinically available in countries like the US and Taiwan. A study titled Autism Spectrum Disorders: Prenatal Genetic Testing and Abortion Decision-Making among Taiwanese Mothers of Affected Children (Chen et al., 2020) of Taiwanese mothers suggests about two-thirds of participants would undergo prenatal genetic testing for autism and more than half would terminate a (hypothetical) pregnancy showing signs of autism.

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One can imagine the other half, choosing not to terminate the hypothetical pregnancy, were plagued with questoins and uncertainty. If and when—and scientists believe this is in the near future—reliable screening for autism becomes available, will these tests become routine? Online forums spell out the moral wrestling of ending a pregnancy after genetic testing finds fetal abnormalities. If a prenatal test for autism becomes routine, how will women deal with finding out their fetus could be on the spectrum?

Accuracy of prenatal genetic testing for ASD

Genetic testing for autism is becoming more accurate and advanced, but currently there are still restrictions. According to a study (Ho et al., 2016) chromosomal microarray (CMA) to detect autism had an overall detection rate of 24.4%. Improvement in testing with exome sequencing—which looks at more of the genetic code than standard genetic tests—will probably improve genetic counseling, meaning autism will be detected with increasing accuracy in fetuses.

Early detection, early intervention

It is comforting to believe that ASD prenatal testing is mostly about helping scientists discover more about genetic variations linked to autism, and identifying autism at the earliest opportunity to allow parents to plan ahead. The argument is convincing when you consider studies examining the effect of early autism intervention, especially with regards to brain plasticity (Dawson & Zanolli, 2003). In this study, the authors concluded that early intervention enhancing social attention, should lead to alterations in brain activity.

A prenatal test detecting autism in a fetus could provide parents with enough time to shift expectations, appeal for all the support they’ll need, and prepare themselves emotionally and financially. But preparing for a life of care will also bring up the inevitable question for some parents of whether it would be easier not to embark on the journey at all. 

Looking at a study (de Graaf et al., 2017) about the estimation of people with Down syndrome in Europe, a reduction of 27% was estimated, meaning (at the time) approximately 417 000 people with Down Syndrome were living in Europe—but without elective abortions there may have been an estimated 572 000.

Another review (Rijhsinghani et al., 2013) tells us that between 71 and 100% of women decide to terminate a pregnancy with fetal Down syndrome. In countries like Denmark and Iceland the statistics are close to 100%.

Prenatal testing or elimination of autism?

Perhaps these studies should be investigated along with researchers’ quest for more accurate prenatal testing for autism. Because the dwindling numbers of those born with Down syndrome may be the fate of kids on the spectrum if testing asks parents to choose who should live. 

And then? What will the next prenatal test set out to detect? Developmental disorders, neurodiversity, or any mutant gene that may cause variation from a cognitive standard determined by science? A dystopian future with a distinct eugenics twist seems scary and a little too realistic.

References:

Bai, D., Yip, B., Windham, G. C., Sourander, A., Francis, R., Yoffe, R., Glasson, E., Mahjani, B., Suominen, A., Leonard, H., Gissler, M., Buxbaum, J. D., Wong, K., Schendel, D., Kodesh, A., Breshnahan, M., Levine, S. Z., Parner, E. T., Hansen, S. N., Hultman, C., … Sandin, S. (2019). Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort. JAMA psychiatry, 76(10), 1035–1043. https://doi.org/10.1001/jamapsychiatry.2019.1411

Chen, W. J., Zhao, S., Huang, T. Y., Kwok, O. M., & Chen, L. S. (2020). Autism Spectrum Disorders: Prenatal Genetic Testing and Abortion Decision-Making among Taiwanese

Mothers of Affected Children. International journal of environmental research and public health, 17(2), 476. https://doi.org/10.3390/ijerph17020476

Dawson, G., & Zanolli, K. (2003). Early intervention and brain plasticity in autism. Novartis Foundation symposium, 251, 266–297.

de Graaf, G., Buckley, F., & Skotko, B. G. (2017). Estimation of the number of people with Down syndrome in the United States. Genetics in medicine : official journal of the American College of Medical Genetics, 19(4), 439–447. https://doi.org/10.1038/gim.2016.127

Folstein, S., & Rutter, M. (1977). Infantile autism: a genetic study of 21 twin pairs. Journal of child psychology and psychiatry, and allied disciplines, 18(4), 297–321. https://doi.org/10.1111/j.1469-7610.1977.tb00443.x

Hansen, S. N., Schendel, D. E., Francis, R. W., Windham, G. C., Bresnahan, M., Levine, S. Z., Reichenberg, A., Gissler, M., Kodesh, A., Bai, D., Yip, B., Leonard, H., Sandin, S., Buxbaum, J. D., Hultman, C., Sourander, A., Glasson, E. J., Wong, K., Öberg, R., & Parner, E. T. (2019). Recurrence Risk of Autism in Siblings and Cousins: A Multinational, Population-Based Study. Journal of the American Academy of Child and Adolescent Psychiatry, 58(9), 866–875. https://doi.org/10.1016/j.jaac.2018.11.017

Ho, K. S., Wassman, E. R., Baxter, A. L., Hensel, C. H., Martin, M. M., Prasad, A., Twede, H., Vanzo, R. J., & Butler, M. G. (2016). Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders. International journal of molecular sciences, 17(12), 2070. https://doi.org/10.3390/ijms17122070

Rijhsinghani, A., Li, C., Fleener, D. (2013). 405: Termination rate and stillbirth in pregnancies affected by fetal Down syndrome. American Journal of Obstetrics and Gynecology, Volume 208, Issue 1, Supplement, Page S178, ISSN 0002-9378, https://doi.org/10.1016/j.ajog.2012.10.571.(https://www.sciencedirect.com/science/article/pii/S0002937812016547).

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