This study will be available on bmj.com on Monday 8 December 2003.
The research team identified all pregnancies terminated during 1991-2000 following prenatal diagnosis in Oxford. Details about the diagnosis and autopsy findings were examined to assess how often having an autopsy performed by a specialist paediatric pathologist changed the advice subsequently offered to parents.
Of the 57,258 deliveries, 309 (0.5%) were terminated due to a defect diagnosed before birth. The number of terminations (of which 49% followed prenatal diagnosis by an ultrasound scan alone) increased during the study period, from 129 (0.4%) in 1991-5 to 180 (0.6%) in 1996-2000, whereas the percentage of fetuses that underwent autopsy fell from 84% to 67%.
In more than a quarter of cases, where the prenatal diagnosis was by ultrasound scan alone, the autopsy provided important information that changed the estimated risk of recurrence. In 8% of cases this was increased to a high (one in four) risk.
By declining an autopsy, parents will remain ignorant of information that may have implications for future pregnancies, say the authors.
Parents need full information about the potential benefits of autopsy, as well as information about the procedure itself, if they are to make a fully informed decision. This discussion should be with an appropriately trained professional, they conclude.