Do we really need an even better prenatal test for Down syndrome?

Chris Kaposy challenges the need for further developments in prenatal testing for Down syndrome.


The journal Clinical Proteomics recently published an article describing a new experimental prenatal test for Down syndrome that uses only a maternal urine sample. The test has been touted in the media as providing instant results with 90% accuracy. The promise of such a test – if it ever comes to market – is that women could administer it at home, early in pregnancy, with low cost.

Prenatal testing for Down syndrome and other aneuploidies is a rapidly advancing field. In the past few years, biotech companies have developed prenatal Down syndrome tests that detect cell-free fetal DNA in the pregnant woman’s blood. These tests have been dubbed “non-invasive prenatal tests” because they provide highly accurate results without having to resort to invasive tests such as amniocentesis or chorionic villus sampling, which carry a risk of miscarriage. The new urine test for Down syndrome, developed by the biotech firm MAP Diagnostics Ltd., is the latest advance in a “corporate arms race” to develop prenatal tests for Down syndrome that are accurate and less invasive, cheaper, easier to administer, and that can be administered earlier in pregnancy than previous methods of testing.

A majority of the time, a prenatal diagnosis of Down syndrome leads to a selective termination of the pregnancy. As I have argued elsewhere, because of their ease of use and their non-invasiveness, the new non-invasive prenatal tests for Down syndrome could contribute to increased numbers of selective terminations of pregnancy.

In an interview, Dr. Ray Iles, the lead author of the article describing the experimental urine test for Down syndrome, stated that the development of the test was “the result of a lifetime’s work.” Dr. Iles also described Down syndrome as a “serious disability” and suggested that the seriousness of the disability “has driven us to persist with our research.” Dr. Iles along with two co-authors are listed as employees of MAP Diagnostics, which hopes to ultimately market their new test.

Bay of Fundy. Hantsport, Nova Scotia. Photo Credit: Angel Petropanagos

Bay of Fundy. Hantsport, Nova Scotia. Photo Credit: Angel Petropanagos

Meanwhile, people with Down syndrome and their families are doing just fine. Research by Brian Skotko and his colleagues at Massachusetts General Hospital has shown that a vast majority of people with Down syndrome express happiness with their lives. Similar research shows that children with Down syndrome and their siblings tend to have good relationships, and that families with children who have Down syndrome tend to function well.

There is an inconsistency between the lived experience of people who have Down syndrome and the corporate arms race to develop new and better means for identifying fetuses with Down syndrome. Few people who live and work with those who have Down syndrome would describe it as a serious disability. The arms race to develop these tests is not being driven by the needs of people with Down syndrome or the needs of their families. Of course, a great deal of scientific ingenuity is needed to create novel tests, like the one Dr. Iles and his colleagues have recently described. For this reason, creating these tests might require a lifetime’s work. But the social utility of these tests is incommensurate with the effort needed to create them. In contrast to the scientist who devotes her life to the treatment of cancer, Dr. Iles’s devotion to create a test that helps parents to avoid the birth of people who tend to enjoy their lives seems somehow less ambitious, or off the mark.

In addition to the exercise of scientific ingenuity, the arms race to develop new and better prenatal tests for Down syndrome is being driven by the pursuit of profits. Prenatal testing is a big business involving patents, litigation, and competition for market share. The larger ethical question is whether this pursuit of profit is good for people who have Down syndrome or even good for the rest of us.


Chris Kaposy is an Assistant Professor of Health Care Ethics in the Division of Community Health and Humanities, Faculty of Medicine, Memorial University in St. John’s Newfoundland. @ChrisKaposy


  1. […] here’s a bioethicist asking a new question – do we actually need more and more sensitive Down syndrome tests? Chris Kaposy […]

  2. Clare Hitchens · · Reply

    Thank you, thank you, thank you for this perspective. Although I believe in the value of being prepared and wouldn’t deny parents any of their reproductive rights, I would rather see the research funds directed toward health advances for people with Down syndrome across their ever-increasing lifespan.

  3. Way back when we were pg with our first child, we had a “weird” ultrasound. We worried/wondered and decided to do an amnio. While waiting (and waiting) for the result, my seasoned/wise and wonderful mother sent a brilliant letter stating that there is NO GUARANTEE when you become a parent, for Anything. No mater what test there is, as a parent part of the deal is that this is a new life, ups/downs, goods/bads, health/sickness… that is parenting.

    1. Our first child, with the “weird” ultrasound, was born healthy, happy….

  4. Todd Strang · · Reply

    I am a father of three children, one of which “Christopher” has Down Syndrome.
    We would not trade our son for anything in the world. Christopher brings great joy to our family, and everyone who is fortunate enough to meet him. Christopher loves life and recently has obtained his brown belt in karate.
    Many children with Down Syndrome lead full lives, graduate High School, attend College, hold down jobs, own businesses.
    Ignorance of a condition and the improvements that have been achieved over the last couple decades is apparently a dangerous thing. I don’t see them trying to develop an early test for Autism so we can abort these children.
    I am offended by this research and the ignorance that drives it.

  5. As a mother who went through prenatal testing, I wish it would improve. All of my tests came back “clear” meaning no genetic anomalies were detected. When my son was born we immediately presumed this was not the case.

    When I should have been doing all of the “typical” new mom things such as learning to take care of myself, feeding and caring for a newborn, and every other stressful and fun thing that comes around, I also had to wrangle with finding out what was making my newborn suffer, coping with him needing surgery at three days old, and wrestling with my feelings after hearing that my son has Down syndrome.

    If I knew before he was born, I could have been better prepared. I could have gone through the stages of grief, learned to accept, and prepare for possible complications at birth BEFOREHAND. I will remember my son being taken away, and not knowing what was causing this horror.

    I agree that many people could use new screening measures as a reason to terminate, but do you truly want those people to go through a potentially devastating time without warning? Do you really want those who would terminate to have a child with special needs in the first place?

    1. Jess- I understand the grief and stress you are feeling raising a child with a disability. The tests discussed in this article are an issue because they give a pregnant woman an illusion of control. There are countless disabling conditions a child can be born with or develop when they are young. Most of these do not show up on a screen.I had one of these babies. I have also worked with parents and families for years. Most parents are not expecting the profound seizure disorder, the cerebral palsy, the autism, the intellectual disability, the many chromosomal deletions, or the terminal cancer. The list goes on and on. I feel sad that parents like you feel like you could have been prepared. This is a critical part of prenatal testing marketing. This article touches on the fact that prenatal testing is a money making industry. The marketing is based on the illusion of control. I hope you find support for all you are feeling. It is honest and very real….but this is not a black and white issue. No parent gets to terminate all imperfect pregnancies. As your son gets older, I hope you come to see that he is like any other child. He will celebrate joy, know sadness and hope to contribute to the world. I promise.

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