Down syndrome prenatal testing should not be a public health prevention program

Fig. 1 from Collins et al. (2008)

Fig. 1 from Collins et al. (2008)

David A. Savitz, in an editorial commenting on the study showing Down syndrome is disappearing in Victoria, Australia, says prenatal testing should be used to eradicate Down syndrome due to widespread acceptance of selective abortion. He’s not quite right.

At the time of the editorial, Prof. Savitz was with the Department of Community & Preventive Medicine at Mount Sinai School of Medicine in New York City. He has since taken a position at Brown University as the Vice President for Research.

His assessment of 80% of all pregnancies positive for Down syndrome in Victoria, Australia being aborted is essentially: Good. More. Almost there.

Ideal screening program

Savitz explains that “the ideal screening program” would have:

  1. “perfect sensitivity and specificity in detecting the condition of interest,”
  2. the health condition is of “substantial clinical and public health importance,”
  3.  “once detected there would be effective and acceptable action to prevent the adverse outcome, and”
  4. “the health care community and public would fully embrace the strategy.”

Prof. Savitz’s criteria for effective public health screening methods differs from the traditionally quoted criteria developed by the World Health Organization.

Under the WHO criteria, there must be a treatment for the screened condition. The lack of treatment has always been the critique of prenatal genetic testing. Currently there is no prenatal treatment for Down syndrome. As a result, it has always been a point of contention as to why, even, prenatal screening for Down syndrome is an acceptable public health measure, since it does not afford any actual treatment of the condition.

Hence the significance of Prof. Savitz’ modification: treatment is no longer needed, just so long as the measure taken to prevent the condition is acceptable to the public.

How far can prenatal testing go?

The Collins et al. report on Victoria, Australia found there are more Down syndrome pregnancies than ever, but fewer births of children with Down syndrome due to prenatal testing and a 95% termination rate. For Prof. Savitz, this result is demonstrating that prenatal testing is working as it should:

There is every reason to believe that increasing the proportion of cases diagnosed prenatally (among younger or older mothers) will result in an increase in selective pregnancy terminations and reduced birth prevalence, a desirable and attainable goal.

(emphasis added). For Savitz, it’s not enough that only about 20% of all pregnancies carrying a child with Down syndrome result in live birth–that is 20% too much:

These reports both provide data to enhance understanding of each component and thus inform discussion of how to further reduce the birth prevalence of Down syndrome … .

How far of a reduction?

[The Collins’ study] raise[s] the question of … what the ultimate goal of such programs should be, including eradication of the disorder.

What is exactly widely accepted?

What Savitz and the researchers featured last week ignore is the critical decision being made to “prevent” Down syndrome: abortion. According to Savitz, this is a “widely accepted” method of prevention:

Our understanding of the genetics of [Down syndrome], the availability of relatively noninvasive, accurate prenatal screening tests, societal investment in screening programs, and reasonably widespread acceptance of selective termination of pregnancy have made it possible to prevent these conditions that carry lifelong morbidity for the affected child and their families.

(emphasis added). “Widespread acceptance of selective termination” meets elements 3 and 4 of Savitz’ criteria for a public health screening program. Except, selective termination is not what is “widely accepted.”

Rather, Savitz recognizes that:

The goal is to offer safe and accurate screening methods to all mothers, allowing informed choices regarding pregnancy termination.

Informed decision making by expectant mothers is what is a widely accepted use of prenatal testing. Selective termination as a means for preventing Down syndrome is not.

An ethical analysis of prenatal testing made it explicit that the manufacturers of the newest form of prenatal testing must never promote their tests as a means for reducing the number of children born with Down syndrome. Instead, professional recommendations, ethical justifications for Down syndrome, and generally widespread views–particularly by women–agree that women should have access to information upon which to make an informed decision about whether to continue their pregnancies.

Except, the administration of prenatal testing has persistently failed to allow for informed choices by a significant number of expectant mothers who accept it. Patients report not recalling choosing to accept prenatal testing, not understanding the results, not expecting to be confronted with a decision to terminate following a diagnosis, and experiencing increased anxiety regardless of the screening result. As a result, one survey of studies on prenatal screening found that “the overwhelming conclusion” was that prenatal testing does not respect a woman’s right to make an informed decision.

Not a wise public investment

Never mind that, though, because for Savitz, it is a wise expenditure of public health dollars to invest in Down syndrome screening programs:

There are few situations in which investment in health services has such a clear public health impact. Combined with financials estimates of costs and benefits, such research builds a sound empirical basis for societal decisions regarding investment in such screening programs.

Except by Savitz’s own goal for prenatal testing to allow for informed decisions, its current administration fails at too high of a rate of achieving informed decisions to be a wise investment of public dollars.

Before any further investment is made into prenatal testing, further investment is needed for the other recommended information resources for expectant mothers, namely genetic counseling, accurate written materials, and local parent support organizations.

Otherwise, the administration of prenatal testing is not meeting Savitz’s criteria for it being a public health measure. Because what is widely accepted–women making informed decisions–is not happening.

Comments

  1. Well eradication is NOT possible as stated because a worldwide consistent 5% of the prenatally diagnosed do NOT accept the “treatment” and or so called “burden” theory compared to the lifelong heavy costs and burden of termination.

    Build that into your article Australia–openly and honestly covering all sides of the coin.

    Prenatal testing should not be started without the reality of termination being discussed. Information is important but it should be a choice to avoid the drawbacks & coercion into termination and anxiety-filled pregnancy.

    Full ultrasounds can be offered to those parents passing on testing to review for MEDICALLY relevant diagnoses prenatally but besides extra RISk for medical conditions–Down syndrome diagnosis alone is NOT a medically conclusive statement in and of itself as it pertains to each INDIVIDUAL person.

    Do we terminate prenatally diagnosed heart conditions or digestive concerns at a 90-95% rate? I doubt it. Full information is provided and parents are not likely pushed into terminating in all cases.

    Medically treatable conditions are TREATED. Down syndrome leads to higher risk for conditions that are predominately fully MEDICALLY managed for most individuals.

  2. That’s not quire right Mark. National screening programmes have only ever been funded and implemented specifically for terminations to prevent the births of children with Down syndrome. There is no benefit to the child that depends on a diagnosis. That is the case in the UK, Australia and New Zealand.

    • Mike–I agree with your point about the purpose of public prenatal screening programs. However, my critique is of Savitz’s view of what the goal should be–informed decisions–and how the current public investment and administration of prenatal screening programs does not serve this goal. Also, I expect many parents would disagree that there is “no benefit to the child that depends on a diagnosis” given that many change their delivery plans, receive increased monitoring, and have a plan of action in place should the child have an associated health condition.

      • The identification of a health condition is not dependant on a diagnosis. It is only dependent on good routine health care during pregnancy as is provided for others without discrimination.

  3. renate lindeman says:

    In my country the Netherlands (public) medicare is covering less treatmen
    ts and basic aids (like glasses for kids) because expenses are becoming too high (so they say). Yet, recently they included coverage for the NIPT for all women who are ‘high risk’ due to maternal age or if the result of the triple screen (covered in medicare) points into that direction. I would like to know the situation (coverage) in the USA seeing prenatal screening for Downs doesn’t fall under WHO criteria for public health prevention program.
    Mark can you tell me, or point me to an article detailing the current situation in the USA or other countries?

    • In the United States, public healthcare insurance for pregnant women is primarily through Medicaid. Medicaid is a state-by-state run program. Therefore, there’s no one universal answer. That said, increasingly, state Medicaid programs are paying for NIPT who are “high risk” and have covered traditional screening for years. Private insurance is also an ad hoc system, with some covering NIPT and others not, yet, but, again, increasingly, private insurance is covering NIPT for “high risk” and have covered traditional screening for years. Coincidentally, I have an article that is to-be-published on this issue, but I’m not sure when the publication date will be.

    • Renate–I just saw your letter to the NY Times–very well written and great point about all adding value and diversity.

Trackbacks

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  2. […] discussed at length at several other posts, prenatal genetic testing is publicly funded throughout the United States and in most […]

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