A study performed
a few years ago [1] describes a delicate situation regarding certain
widely used medical tests. The triple test has been performed on many pregnant
women in order to detect whether the fetus will have the Down syndrome and other
deficiencies. When the test is positive, gynecologists often recommend an amniocentesis
or a chorionic villus sampling (biopsy), but as these tests involve some risk,
many pregnant women do not want to do it, and some may decide to have an
abortion based only on the results of the triple test.
The Down
syndrome affects approximately 0.13% of fetuses. The problem is that the triple
test used to detect it has a 70% sensitivity (or what is the same, the
probability of a false negative is 30%) and a 91% specificity, which means that
the probability of a false positive is 9%.
How should
we interpret these numbers?
Suppose the
triple test is performed on 1000 pregnant women. By applying the above data we
conclude that:
•
The
likely number of fetuses affected by Down syndrome will be 1 or 2.
•
The
probability of detecting them with the test is 70%.
•
90
women (9% in 1000) will test positive, even if their child won’t be affected by
the Down syndrome.
Things may
improve thanks to a new blood test for pregnant women, lately implemented to
detect fetal trisomies such as those in chromosome 21 (which produces the Down
syndrome) with a sensitivity of 99% and a specificity of 99.9%. At least,
thanks to this, some fetuses will escape abortion, but a fundamental question will
remain standing: children with the Down syndrome have no right to
life?
[1] E.Kurz-Milcke, G.Gigerenzer, L.Martignon, Transparency in risk communication: graphical and analog tools, en Strategies for risk communication: evolution, evidence, experience, Annals of the New York Academy of Sciences, vol.1128, 2008
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Manuel Alfonseca
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