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Prenatal screening for Down syndrome affects millions of pregnancies every year worldwide. The vast majority of screen-positive results are false, yet encourage invasive diagnostic procedures that pose additional risks to unborn babies. As a direct consequence many babies who do not have Down syndrome are lost. We estimate that current screening practice in England and Wales reduces annual live births of babies with Down syndrome by around 660 and leads to the losses of 400 babies without Down syndrome. Although prenatal diagnoses are becoming more frequent, more babies with Down syndrome are being born (up 25% over 15 years). Considerable attention has been given to studying the performance of competing screening techniques, yet relatively little attention has been given to the consequences for the psychological and physical wellbeing of all parents and their babies. Meanwhile, quality of life for people with Down syndrome continues to improve. In many countries, people with Down syndrome are living longer and achieving more than ever before. The authors urge policymakers to note that the live birth prevalence of Down syndrome continues to rise and that average life expectancy is now approaching 60 years. Accordingly, research and practice priorities should shift from prevention to improving care, education and support for a growing and ageing population. We suggest that policies permitting genetic screening for mental or physical abilities should be reviewed through wide public debate before new prenatal diagnosis and genome sequencing technologies become more readily available.

Wrongful deaths and rightful lives – screening for Down syndrome