The rapid changes in prenatal screening and diagnostic techniques bring new challenges. Alberry et aldiscuss the 'unintended consequences' of recent national guidance for anomaly screening and invasive testing from the point of view of a regional fetal medicine unit. Developments in Trisomy 21 (Down Syndrome) screening have sought to increase sensitivity and specificity of screening tests. From the point of view of the individual woman, this means that if she chooses to participate in screening, she will have a high chance of detection of Down Syndrome, and a low chance that a subsequent invasive diagnostic test will be recommended when her baby is unaffected, since invasive testing carries a low but measurable risk of fetal death.
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