Research and commentary

Parental response to sickle cell and cystic fibrosis results after newborn screening

Gaining informed consent does not always guarantee that parents are fully aware of the possible outcomes of newborn screening for genetic or congenital conditions
Sickle-cell disease

Ulph F et al (2015) Parents' responses to receiving sickle cell or cystic fibrosis carrier results for their child following newborn screening. European Journal of Human Genetics, 23, 4, 459-465.

Newborn screening (NBS) identifies pre-symptomatic babies who are at risk of carrying or affected by genetic or congenital conditions (UK Newborn Screening Programme Centre 2012). In England, parents are required to provide informed consent before their baby is screened.

Healthy carrier status is the second commonest outcome that parents and HPs will discuss in practice, after normal results. Misunderstanding about carrier results has been linked to heightened parental anxiety.

This paper explores the impact on parents of receiving cystic fibrosis or sickle cell carrier results in England. It was proposed that requiring parents to be informed about the NBS process before consent would adequately prepare