Abstract
Prenatal diagnostic tests, like Gaul, can be divided into three; those involving measurement of substances in maternal blood, imaging the fetus, and invasive tests to remove tissues of fetal origin (including embryo biopsy). Maternal blood tests are essentially screening tests and positive results require following up by other investigations. Fetal imaging, mostly by ultrasound at present, has characteristics of both a screening and a diagnostic test. Invasive tests are, by and large, diagnostic tests which are carried out in people who are already known to be at increased risk. For the patient and her doctor the most important consideration is the risk of the procedure. Whatever the reason for an invasive prenatal diagnostic test the final indication for it occurs when a patient perceives the expected utility of the test to be greater than that of no test. This in turn will depend on her perception of the probability of the disease in question and the probability of a harmful result from the invasive test, along with her valuation of these outcomes.
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Lilford, R.J. (1991). Fetal Tissue Sampling. In: Roberts, D.F., Chester, R. (eds) Molecular Genetics in Medicine. Palgrave Macmillan, London. https://doi.org/10.1007/978-1-349-10874-9_5
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