What is the real worry about the newest prenatal testing for Down syndrome?

 

I’ve been reviewing the recent Wall Street Journal report by Christopher Weaver on the new prenatal testing for Down syndrome. Weaver reports on questions raised by the new testing. The accompanying video to the report (available above) distills the worry down to a few simple statements. But are these statements the real worry with the new prenatal testing for Down syndrome?

The point of the report is to emphasize the lack of certainty provided by the new non-invasive prenatal screening (NIPS) provided by companies like Sequenom, Verinata, Ariosa, and Natera. While NIPS initially was hailed for its accuracy, the report’s point is that there should remain caution in relying on the new testing, since NIPS still has false positives and false negatives.

The language of the article guides the reader into appreciating why there should be concern:

  • Down syndrome is described as a “genetic abnormality.”
  • A negative amniocentesis for Down syndrome means “the fetus was normal.”
  • A 43-year old mother pregnant for the first time considered her child a “miracle” but had NIPS in order to “rule[] out problems” like Down syndrome.

With this clear view on Down syndrome being a problem, the report explains the need for caution: the “worst-case scenario,” as Mr. Weaver describes it, is where “inaccurate test results could contribute to the abortion of healthy babies.” The report refers to a case study where this has happened.

This framing of the concern then means that accurate results contributing to the abortion of babies with Down syndrome is not the concern–indeed, from the report, it seems that that is the utility of the testing: to allow for abortion of babies with Down syndrome. The report highlights how the test “can be performed earlier in a pregnancy–beginning at about 10 weeks, offering a head start on potentially difficult situations.” And, it worries that false negatives “also present a quandary for women and doctors who may not find out until much later that a fetus has an abnormality.”

In the video above, Mr. Weaver is interviewed and these concerns are made clear around the two-minute mark. The interviewer boils down the worry being where a patient “could terminate a healthy pregnancy believing there are genetic abnormalities with the fetus.” Mr. Weaver also notes the equal concern where a patient could “proceed with a false negative only to find out later that there’s an issue.”

But is this the real worry about NIPS? And, should it be?

No doubt it is concerning that test manufacturers’ marketing could cause providers and patients to believe results are definitive enough to be relied upon for an abortion. And, equally certainly, it is a concern where a woman intends to abort relying on a test result for Down syndrome when her pregnancy is not positive for Down syndrome. But isn’t the real concern more fundamental:

Women will be be lead to believe something that is not true, and will rely on that inaccurate information to choose to end their pregnancy.

This is the concern of the report, but the report takes it as a given that the information of “Down syndrome” is accurate enough that women choosing to terminate on that basis do so consistent with their values and their wishes. It ignores that:

  • Medical professionals are not well-trained about the testing or what a life with Down syndrome can be like.
  • Though progress has been made, society remains one that too often discriminates against those with Down syndrome, which impacts how a patient with no other exposure to Down syndrome will understand what that diagnosis means.
  • The same professional guidelines the report is based on call for genetic counseling and the provision of accurate information about Down syndrome, but the availability of genetic counseling is spotty, and, if information is provided about Down syndrome, it is often out-dated and overly negative.

By ignoring this gap and imbalance in the information delivered with just a test result for Down syndrome, the report overlooks the real worry that it seeks to report on, namely whether women are receiving accurate information upon which they can rely to make the significant decision of ending their pregnancy.

This oversight is easily explained by who was not interviewed as part of Mr. Weaver’s article. While representatives of the medical community and the NIPS companies were featured, no representative of the tested-for community was interviewed.

The Wall Street Journal may carry a report at a future date that is focused on the views of representatives from organizations and advocates serving individuals with Down syndrome. At least when I was interviewed, part of that reporting concerned the intra-community discussion over what resources should be provided and by whom. Hopefully, however, the report will focus on these more fundamental (and relevant) concerns over how prenatal testing is being administered.

And, hopefully, in the future, journalists and editors reporting on prenatal testing also will include interviews of representatives from the tested-for community.

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