Down Syndrome Prenatal Screening: Bad Medicine & Unethical

Still from Bon Jovi's "Bad Medicine" video

Still from Bon Jovi’s “Bad Medicine” video (click image to see video)

A Scottish doctor considers Down syndrome prenatal screening bad medicine and a survey of British hospital ethics committees finds it unethical.

Bad medicine: antenatal screening

So reads the headline from a 2013 op-ed. Des Spence, a general practitioner in Glasgow, has a recurring series on “bad medicine” in the British Medical Journal.  Here’s why he featured prenatal genetic screening as bad medicine:

There is a cognitive and cultural dissonance towards disability in antenatal screening.

* * *

[F]or screening to be justified, the natural course of the condition must be understood and there should be an agreed policy of whom to treat. [citing the World Health Organization guidelines for screening tests].

* * *

[F]or Down’s syndrome, the natural course is changing, with many adults living full and active lives.

Dr. Spence draws the contrast between how a pregnancy positive for a condition, like Down syndrome, is currently treated versus one that is negative in two telling examples. First, on the uncertainty of any life:

Pregnant women and couples are vulnerable, often entering into screening without giving much thought to the consequences. And when an abnormality is detected they get little time or specific direction on the decision to terminate. Meanwhile, for “normal” children, life comes with no guarantees; the only certainty is a myriad of unpredictable and often devastating life events that await us all.

Secondly, on how the two pregnancies are treated differently:

In 2010 in the United Kingdom there were 1173 terminations for anomalies after 22 weeks’ gestation. And because fetal viability occurs around this stage of gestation, feticide is conducted before delivery. These are extraordinarily painful decisions for couples to have to make. By contrast, if a child without disabilities is born after 22 weeks, neonatal life support is offered or given automatically. This is despite prematurity being associated with high levels of physical and mental disability.

This cognitive dissonance of what to test for and who to treat versus who to advise about terminating a pregnancy leads Spence to his conclusion:

… I do know that we need more clarity. There exists an intellectual and ethical void in our current practice, and this is bad medicine.

Down’s syndrome screening is unethical: views of today’s research ethics committees

So reads the headline for an article by Tim Reynolds, a professor in the Clinical Chemistry Department at Queen’s Hospital in Staffordshire, England.

Reynolds surveyed members of 40 randomly chosen research ethics committees. He received 77 replies to questions gauging their views on the ethics of prenatal testing depending on how the conditions were described. Here’s what he found:

  • 95% supported testing when it was for a life threatening condition and testing allowed for treatment.
  • However, only 14% supported testing for conditions with a slight increase in premature death and only 10% for cosmetic features, e.g. cleft lip or palate.
  • The respondents were essentially split (49/51) when the condition involved significant shortening of lifespan.
  • “Down’s syndrome screening was considered more ethical when described as a serious condition (56% in favour) than when the clinical features were described (44% in favour).”
  • When increased rates of miscarriage from confirmatory/diagnostic testing were added, though, 79% and 86% considered testing unethical (for “serious” and “clinical features” description, respectively).

To expand a bit on these findings, depending on how Down syndrome was described, and whether the respondents considered miscarriage may occur from diagnostic testing, changed how they viewed whether prenatal testing for Down syndrome was ethical.

When described as a “serious condition” and not asked to consider that unaffected pregnancies may miscarry from diagnostic testing for a false-positive screen result, then the ethic committee members thought that prenatal testing for Down syndrome was ethical. But not a large margin–only 56%.

When Down syndrome’s clinical features were described, e.g. “severe learning difficulty, heart defects, and slight reduction of life span,” then a minority, 44%, considered prenatal testing ethical.

But when the same respondents were asked about testing for the same condition which would result in unaffected pregnancies miscarrying from diagnostic testing, i.e. an expectant mother who had a false-positive screen test has an amniocentesis and miscarries due to the procedure, then overwhelmingly, the respondents answered that prenatal testing was unethical.

Current professional guidelines for Down syndrome prenatal testing instruct that every patient should be offered diagnostic testing to confirm a screening test. Indeed, the current practice guidelines in America are to offer diagnostic testing to every woman, period, regardless of whether they have had a screening test. Every diagnostic test carries with it a risk of miscarriage.  As a result, the respondents in this survey would say prenatal testing for Down syndrome is unethical.

Prof. Reynolds has an interesting back story. He discloses that

I am a consultant chemical pathologist who runs a laboratory that carries out Down’s syndrome screening tests, and wrote software that many laboratories used to make Down’s risk calculations.

So, let that inform his concluding sentences:

Down’s syndrome screening represents a line in the sand, which may already represent a step too far because it indicates a lack of value for the disabled. The spectre of eugencis loomed in the 1940s; now it could be applied with even better precision. It is essential that we as a society urgently debate and decide precisely what we wish to become.

A debate that hasn’t happened, a void that persists.

In conclusion, it should be appreciated that Professor Reynolds published his survey finding Down syndrome prenatal testing unethical in 2003. He called then for an urgent debate.

A decade later, Dr. Spence says there is an “ethical void” that demands clarity on how we are administering prenatal testing, because, as is, it is bad medicine.

When will this urgent debate be had?

Because with each year it seems that not only is the natural course of Down syndrome changing, it’s changing for the better. But at the same time, prenatal testing increases in uptake and more “extraordinarily painful decisions” are being made to diminish the number of children born with Down syndrome.

Comments

  1. Great article. Remember the so-called “Misconceptions 1 and 2″ that the US DSA’s published, trying to deny the intent and purpose of screening?https://www.acmg.net/StaticContent/Resources/Consensus%20Conversation%20Statement.pdf

  2. I am relieved to see that second quote from Prof Reynolds, because otherwise the ethics committees seem to have found diagnostic testing problematic only when it put a ‘normal’ foetus at risk. That is to say, a disabled child is less valuable. Tacit assumptions about whose life is really of value pervade this debate.

    • Well, the ethics committee still found prenatal testing unethical when Down syndrome was described by its clinical characteristics versus as a “serious condition.” But, to your point, with non-invasive prenatal screening drastically reducing the number of false screen-positive pregnancies exposed to risk of miscarriage from diagnostic testing, this survey may have a different outcome if conducted two years from now (allowing for NIPS to become part of standard screening protocol).

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