Largest Reduction of Births with Down syndrome following introduction of MaterniT21, Harmony, & other cfDNA screens

Researchers have updated their analysis of publicly reported data on the number of births and lives with Down syndrome in the United States. Though not entirely terrible, that orange bar in the graph above is ominous for future updates.

Researchers Gert de Graaf, Frankl Buckley, and Brian Skotko have been performing the yeoman work for several years of crunching the numbers of publicly reported data in the United States on the number of births and lives with Down syndrome. In the Spring of 2022, they updated their analysis with the most current information.

Largest reduction rate EVER!

Let’s begin with the bad news.

As the graph above demonstrates, there have never been more selective abortions for a prenatal test result for Down syndrome in the history of the United States. de Graaf et al. term this effect the “reduction rate”. Factoring in that a not insignificant percentage of pregnancies positive for Down syndrome will naturally miscarry, the researchers analyze the reports to estimate how many pregnancies that would have made it to term were aborted. Therefore, this estimate represents the number of each year’s births of children with Down syndrome that were “reduced” by prenatal testing and abortion.

It’s never been higher.

If you just look at the size of the bars in the graph above, you’ll see that the number of live births of children with Down syndrome peaked in 2007 and has declined since then. The researchers posit that one technological introduction into prenatal testing in 2012/13, cell free DNA screening like Sequenom’s MaterniT21, Ariosa’s Harmony, Natera’s Panorama, and illumina’s Verinata, may account for the increase in the reduction rate. Considering that nothing else has changed in terms of prenatal testing technology since the researchers published their immediately preceding study, a basic science experiment would suggest the additional variable of cell free DNA screening accounted for the change.

What is more, this would be precisely what the makers of those tests argued should happen.

To take but one example, Ken Song, as CEO of Ariosa, presented at the American College of Medical Genetics national conference explicitly touting the “savings” of Harmony for potentially resulting in fewer babies being born with Down syndrome due to prenatal detection and abortion.

Indeed, these claimed “savings” is what the cell free screening laboratories’ lobbying group argues for why state Medicaid programs should pay for the costs of their tests: sure, our tests are expensive, but not as expensive as those citizens with Down syndrome you’ll have to support through legally mandated programs established out of a sense that all lives are worthy and we should support them (but if we can prevent them through abortion, then = SAVINGS!).

Some positive news

While the bulk of de Graaf et al.’s update is depressing (if you care about an increase in eugenical decisions), there is some very positive news!

The researchers looked at the publicly reported information on life expectancy across all ethnicities. Historically, there has been an abominable discrepancy between the life expectancy of individuals with Down syndrome who are white versus almost all other ethnicities. To illustrate, first a quick explanation of “median.” When the “median” is quoted of any range, it means that as many are above that number as below. In the context of life expectancy, the “median” age means as many people died before reaching that age as lived past that age. With that said, in 1950, the median age for a black person with Down syndrome was TWO! I’ll let that sink in. When a black child was born with Down syndrome in 1950, as many died before just two years of age as lived beyond that time.

Well, fortunately, in the recent years covered by the researchers, the difference among ethnicities has almost been eliminated. Non-Hispanic Whites, Asian/Pacific Islanders, and Hispanics who happen to have Down syndrome enjoy a median life expectancy of 58 as of 2010. For blacks and American Native Americans, their median life expectancy with Down syndrome is 57.

How’s Your State Doing?

Helpfully, de Graaf, Buckley, and Skotko complete their fact sheet with a table of the states that publicly report data on live births with Down syndrome. I commend it to all readers active with their local Down syndrome support organization to see how your state is performing. To perhaps goad some into action, I’ll relay the following data points:

• Maryland has the highest reported reduction rate of 66%–meaning, that for every baby you see in Maryland that happens to have Down syndrome, TWO other pregnancies that would have made it to term were instead terminated.
• Massachusetts, New Jersey, New York (where the National Down Syndrome Society is headquartered), & Vermont each have a reduction rate above 50% (West Virginia is at 49%)–meaning for every baby you see in those states, another pregnancy was terminated.

For those involved with their local Down syndrome organizations, they can see how their respective states are doing (mine, Kentucky, has an estimated reduction rate of 19%), and may direct their energies and advocacy accordingly.