This page contains the findings of systematic reviews undertaken by review groups linked to the EPPI Centre

The research evidence is largely relevant to screening for cystic fibrosis (CF), and little refers to screening for phenylketonuria (PKU), congenital hypothyroidism (CHT) or sickle cell disorders (SCD).

• Parents rarely refuse newborn screening for their baby but there is a lack of procedures for inviting informed consent. [1] Parents of cystic fibrosis carriers favoured newborn screening and knowing the carrier results, and anticipated telling their child in due course. [2]
• Research about decision aids and informed consent may become more relevant with the offer of more screening programmes and the need to seek informed consent, whether this is for screening itself, the reporting of results, or the storage of bloodspots for clinical reasons or research. [1]
• Little or no research addressed the effectiveness of pre-screening information or informed choice, communication of test results or follow-up screening or diagnostic tests. Limited research was reviewed about the effectiveness of communication about the heel-prick itself, before or at the time of the screening test. [1]
• At present, parents are offered little information and less choice. Anxiety may result from waiting for test results, poor communication of test results, initial results which suggest the baby is unwell (even when further tests show the baby does not have the condition) or genetic carrier results (when the baby is not affected). [1]
• Research from other programmes confirms the need for education about the role and limitations of screening and the meaning of test results. [1]
• Initial indication that babies’ results were not ‘normal’ began a roller coaster of emotion for parents; this could also be difficult for the wider family who were simultaneously trying to be supportive. Some parents, even when they were assured that their baby would not be affected by the condition, continued to be concerned. Discovering their own carrier status could also be an emotional event for parents. Few parents appeared to change their behaviour towards their carrier child. Discussing carrier status with the wider family was perceived as difficult, but necessary. [2]
• Parents would like some forewarning of possible results, but not to have ‘too much’ information. Parents favoured having familiar, non-specialists report test results to them; with these non-specialists being sufficiently briefed and not alarmist. The presence of cystic fibrosis specialists to discuss results alarmed parents, as did being giving information about cystic fibrosis at that stage. [2]
• Cystic fibrosis carrier results led to problems with insurance companies with some families in the USA. [2]
• A minority of parents used carrier results to inform reproductive planning. When, as part of a trial, children’s carrier results were withheld for four years following newborn screening, parents were angry that they had not been told this and given the opportunity to make decisions about reproductive planning. [2]

A survey of information leaflets [3] found that: