Worries about new prenatal screen for Down syndrome

WSJ logoEarlier this month, the Wall Street Journal published a report on worries being raised about the new prenatal screening testing for Down syndrome. What are these worries (and are these the only ones worth reporting on)?

As I have been covering, new professional statements have raised concerns about the newest form of prenatal testing for Down syndrome. Christopher Weaver of the Wall Street Journal wrote one of the few (if only) articles to appear in the media reporting on these same concerns.

The emphasis of the article is that providers and patients may be confused about the accuracy of the testing and about the remaining need for diagnostic testing. No doubt this confusion has been contributed to by the press releases and the reporting on the new testing hailing it as being able to save hundreds of thousands of babies from the risk of miscarriage associated with invasive testing.

The article details how the accuracy of NIPS is still unknown due to small sample sizes, different ways of reporting out results, and individual cases where test results were inaccurate–including one where a mother terminated partly on the basis of a false positive report for Down syndrome.

The report shares how Verinata, the laboratory offering the brand-name NIPS “verifi,” had claimed 100% sensitivity in detecting Down syndrome. Verinata revised that figure to “greater than 99.9%” after its test reported a false negative for Down syndrome. A doctor with Verinata is quoted in the article explaining why the lab changed the statistics: “doctors were uncomfortable with anything on a report that said it was going to be 100% accurate.” An interesting response, given that the doctors should be uncomfortable with anything that says it’s 100% accurate when it is not.

The article is a good and needed one. Since NIPS was introduced, the coverage has promoted its accuracy and relative safety, with any concerns or skepticism being downplayed. The Wall Street Journal report is the only national publication that raises the concern of professionals over the way NIPS has been marketed, is being offered, what decisions are being made based on it, and how these concerns may justify FDA regulation. The ACMG and ISPD have released statements critical of the lack of quality-control and comparative efficacy of each competing NIPS test. Hopefully, The Journal won’t be the only media outlet to question the way NIPS is currently being administered.

This is the first in a series on the WSJ article. I hope you will read the column. If you do, please share in the comments what other worries are either suggested by the report or should also be covered by the media.




  1. […] as every professional statement and even the NIPS testing companies themselves have emphasized, a NIPS result is not enough to rely upon because there remain false positives and false negatives. […]

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