A sick, unethical cycle: prenatal testing for Down syndrome

T21 CellSo many items have cropped up in the past two weeks that here is a listing of all this news about Down syndrome prenatal testing. They lead to a sad conclusion.

Moms views on prenatal testing

  • Jisun Lee, who blogs at the awesomely-named Kimchi Latkes, writes about the myths and realities of noninvasive prenatal screening (NIPS), helpfully linking to this blog as a reference.
  • Another mom, Megan Landmeier, blogs at ourstubbornlittlemiss. While the little miss is her daughter with Down syndrome, the post is about this mom’s experience with prenatal testing in her subsequent pregnancy.
  • And, Maureen Wallace, also a mom and who writes everywhere, but especially at SheKnows, picks up the call made at this blog and elsewhere for the NIPS labs–which know every mom receiving a screen-positive result–to also send the recommended educational materials recognized by professional guidelines with each of their screen-positive results.

NIPS not recognized for subchromosomal/microdeletion conditions or sex chromosome aneuploidies

  • The European Society of Human Genetics & the American Society of Human Genetics issued a joint statement on noninvasive prenatal testing. As featured at the helpful blog prenatalinformation.org, one of the key points of the joint statement was that the ESHG & ASHG say that NIPS is not recognized as valid for detecting subchromosomal/microdeletion conditions like DiGeorge syndrome or sex chromosome conditions like Turner syndrome.

Ariosa says its test Harmony is accurate when offered to the general population

  • This news was just published in the New England Journal of Medicine (NEJM): a study funded by Ariosa not surprisingly found its test, Harmony, accurate when offered to the general population as compared to traditional prenatal screening. This is how the headlines are reading, but there is a lot of bracketing of these results both by the authors themselves and by a simple review of the results.
  • Consistent with previous research by some of the same researchers, the authors note that NIPS tests like Harmony do not test for the variety of conditions that traditional screening does, nor does NIPS share information about the health of the pregnancy and the mom the way that traditional screening does. For this reason, the results are not to be read as a recommendation to replace traditional screening with NIPS.
  • And, while Harmony detected all pregnancies with a child with Down syndrome, it detected no more than traditional screening did for pregnancies with a child with Trisomy 18 or 13.

SMFM: still only offer NIPS to “high-risk” women

  • A week before Ariosa’s study was published in the New England Journal of Medicine, the Society for Maternal-Fetal Medicine (SMFM) issued an updated statement on NIPS. Tellingly, it cautioned:

Current guidelines from SMFM/ACOG, ACMG and NSGC all recommend against the use of cfDNA aneuploidy screening as part of routine prenatal care for all women. SMFM/ACOG and NSGC guidelines suggest that this test not be utilized for “low risk” women. Although cfDNA aneuploidy screening appears to have similar sensitivity and specificity for identifying trisomy 21 and the common aneuploidies in both high risk and lower risk populations, several of these studies have been done by laboratories with a commercial interest and have had limited transparency of many details.

The Potential for Harm is Increasing

  • So say researchers who submitted a letter to the editor of the same edition of the NEJM that featured Ariosa’s article on its test performance in the general population. These doctors instead warn:

We are aware anecdotally of patients who have terminated karyotypically normal pregnancies on the basis of false positive results of noninvasive prenatal screening. As companies are expanding noninvasive prenatal screening to include the detection of rarer chromosomal abnormalities in low-risk pregnancies, the potential for harm is increasing.

Answers to the questions: How many babies are born with Down syndrome? How many are aborted?

  • Gert de Graaf, Frank Buckley, and Dr. Brian Skotko answer these questions their paper published this week. Some of the findings from the US population:
  • There are about 5,300 babies with Down syndrome born annually.
  • There are about 3,100 selective abortions for Down syndrome performed annually.
  • Advances in prenatal testing since the 1970’s have been followed by increased selective abortions for Down syndrome.
  • These numbers pre-date the most recent advance in prenatal testing, NIPS.

Each of these groupings of news items deserve their own post, but collectively I think they also tell a story:

NIPS continues to be oversold and sought to be offered to evermore women by its manufacturers without providing the recommended counseling and educational materials for patients receiving results. And, as day follows night, with each advance in prenatal testing, more pregnancies with children with Down syndrome–and now pregnancies without children with Down syndrome–are aborted. A sick, unethical cycle.

But, maybe we can fix it this time with the administration of NIPS if enough people demand that laboratories and practitioners follow the guidelines and respect women seeking prenatal information by ensuring they receive ALL the information.

Postscript: the morning I posted this, fellow parent & blogger Amy Julia Becker also posted an overview of two of these studies. Read more here

Comments

  1. Is there any evidence that providing more information for decision making will reduce termination rates? Countries with national screening programmes have informed choice laws that mandate full current accurate information for decision making, and have higher termination rates than the U.S.

    The reality is that NIPS will continue to reduce birth rates. As long as society and advocates support informed choice, that will be the reality. That’s human nature and disability.

    • Search Knutzen and Kuppermann on this site and you’ll find links to studies showing that when women are better informed about prenatal testing, fewer will accept it. As a result, those are women who will not receive a prenatal result and not terminate, thereby reducing the number of selective abortions. But what is your alternative? I don’t see a way that prenatal testing is ever going away and therefore women will be offered it and have the opportunity to end their pregnancies.

      • Unfortunately evidence from countries with national screening programmes doesn’t support that outcome. Those countries have informed consent laws relating to all health procedures including screening for Down syndrome, and have both higher uptake rates of screening and higher terminations rates than are being reported in the US. Lower uptake rates in the US, may simply be due to costs to the mother, whereas screening is typicaly at no cost to the mother under a national screening programme.

        I agree that testing is not going away. My alternative would be to ban selective terminations based on genetic variance, in what are otherwise wanted pregnancies. That recognises the difference between a women finding she is pregnant when she doesn’t want to be, versus the women who does want to be pregnant, but doesn’t want the child with a particular genetic composition. That would uphold the disability rights principle of a right to life without discrimination on the basis of a disability.

        The alternative is unrestricted use of prenatal technology, including preimplantation embryonic selection and genetic selective abortion without any restrictions, as off right, as reproductive choice (It has to be unrestricted, otherwise selecting only certain conditions worth targeting, like DS, would continue to be discrimination). A Gattica scenario. One has to be careful not to be backed into that corner, unless one agrees with unrestricted abortion upto to birth for any reason, which I’m sure you know, I don’t. At the end of day, one has to have an ethical position on that, because endorsing informed choice for any reason is to uphold a claim to a right to not have our children in the world.

        • Mike–one of the challenges is not just having a law but enforcing it. Case in point, while there may be general informed consent laws, study after study has shown that women in countries with national screening programs do not understand the testing results or process, so much so that one researcher concluded that “it seems the international norm is to not respect a woman’s autonomy” (or words to that effect–I quote it in my AJOB EB article). Similarly, and as I’ve written about laws like the one in North Dakota and the one proposed in Indiana, simply passing a law banning selective abortions doesn’t do anything without enforcement. It is for this reason efforts to improve the level of understanding and quality of information about Down syndrome are not at odds with your proposed policy measure. Until your policy measure is adopted, women will still be getting prenatal testing, still have the opportunity to selectively abort (even if the place where they live ban it, they can simply travel to where it is permitted), and they will still need accurate information.

          • I agree that families deserve accurate information. That’s where my area of interested started, which resulted in a revised policy for the national screening programme in New Zealand and our group campaigns to get better information and support to parents.

            There is a bigger issue though, in that Down syndrome is targeted for selective abortions, and this reinforces a cycle of prejudice against those living with Down syndrome. I don’t see that cycle being broken and people with DS having freedom whilst a right is claimed to stop them being born because of their genetic difference. One has to be careful that advocating for better information doesn’t inadvertently reinforce that cycle and message support for DS selective terminations.

            Passing laws and enforcing bans to break this cycle of prejudice will a long and focussed effort, very similar to the work that abolished legal slavery, where a group was obsessed under the law and culture of that time.

  2. Something also needs to be done to make sure the doctors and genetic counselors themselves know what they are talking about when it comes to Down syndrome. By providing misinformation, they are leading women straight to termination.
    https://forelysium.wordpress.com/2015/04/06/changing-the-conversation-on-abortion-and-down-syndrome/

    • I agree, Katie. One of the three identified resources by the ACMG for delivering NIPS results is brightertomorrows.org, which has a companion site providing on-line tutorial for medical professionals on how to deliver a Down syndrome diagnosis. Through 3 peer-reviewed studies, participants from medical students, to residents, to practicing physicians agree that going through the on-line tutorial increased their knowledge about Down syndrome. Here’s the link to the tutorial.

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