Communicating prenatal test results

A new study has raised concerns over variation in the communication of prenatal test results by staff working in obstetrics units. Dr Lenore Abramsky and her colleagues at Imperial College, London, found that parents are sometimes given inaccurate or misleading advice when they are first told of a sex (X or Y) chromosome disorder picked up during amniocentesis or chorionic villus sampling.

The researchers interviewed 29 health professionals, mainly midwives and obstetricians, who had recently informed parents of a sex chromosome abnormality in an apparently normal foetus. Such disorders are not usually identified before birth, but are sometimes detected during prenatal tests for Down's syndrome or other chromosomal conditions. The team found wide variation in what the participants knew, thought and said about conditions such as Klinefelter's syndrome (the presence of an extra X chromosome in a male).

Dr Abramsky said the problem tended to centre around the initial phone call informing parents of a potential problem. One couple in the study opted to terminate a fetus with Klinefelter's syndrome without having seen a geneticist. 'It is disturbing to note the haphazard nature of how parents were informed of the diagnosis, what information was given and what was implied' said Dr Abramsky.

The authors call for all obstetric units to have established protocols for communicating prenatal test results to patients, and for staff to have up to date information on the chromosomal conditions that might be detected.