Mothers' accounts of screening newborn babies in Wales (UK).

OBJECTIVE: To explore mothers' accounts of screening newborn babies to increase our understanding of how they define screening and talk about the process of consent. DESIGN: A purposive sample of mothers, whose newborn babies had recently been screened, were invited to take part in a semi-structured interview. SETTING: Primary and community-care settings in one region of Wales, UK. PARTICIPANTS: Mothers (n=18) who had recently given birth and been offered screening for their newborn babies. FINDINGS: Information giving about newborn screening was reported to be ad hoc, with most women receiving information in the postnatal period. Mothers talked about newborn screening as a routine procedure that 'had' to be done. There was some recognition that consent for screening should have been given, but this was often compromised because the test was being offered by a trusted health professional and a social expectation that responsible mothers should have their babies tested. CONCLUSIONS: Mothers agreed that information about newborn-baby screening should be given during pregnancy. This is in line with recent recommendations from the UK Newborn Screening Programme Centre. This policy urgently needs to be translated effectively into everyday practice. In addition, the nature of consent required for each test needs to be clarified so that midwifery practice is not compromised and mothers are aware that some tests are advisable whereas others, for less treatable diseases, are a matter of individual choice.

Developmental progress in Duchenne muscular dystrophy: lessons for earlier detection.

OBJECTIVE: To address the issue of diagnostic delay in Duchenne Muscular Dystrophy (DMD) using developmental data from a cohort of affected boys detected by newborn screening and data on the diagnostic pathways of a group of boys diagnosed clinically. DESIGN: Quantitative and semi-qualitative. SETTING: Primary care. SUBJECTS: 1. Cohort of boys diagnosed by newborn screening (NBS cohort), 2. Group of mothers whose sons were diagnosed clinically (LCD group) Interventions. NBS cohort: (a) Developmental milestones, (b) Griffiths assessment, (c) clinic letters, (d) family case studies. LCD group: semi-structured interview. MAIN OUTCOME MEASURE: 1. The effectiveness of previously proposed strategies for the earlier clinical diagnosis of DMD. 2. Diagnostic pathways of the LCD group. Factors contributing to diagnostic delay in the LCD group. RESULTS: 1. Previously proposed strategies for earlier diagnosis would have had limited effectiveness in detecting the NBS cohort. 2. Diagnostic delay continues because: (a) initial observations are usually non-specific and made by the family, (b) age of presentation and presenting symptoms are highly variable, (c) first concerns are usually expressed to the primary care team who are less likely to recognise the early indicators, (d) early locomotor symptoms could suggest an orthopaedic rather than a paediatric referral. CONCLUSIONS: The identification and implementation of an effective screening tool to reduce diagnostic delay is more complex than previously portrayed. In the light of this evidence service providers need to ask whether newborn screening is the only feasible solution to diagnostic delay.

Psychosocial issues in newborn screening for cystic fibrosis.

Newborn screening for cystic fibrosis remains controversial because there is still little agreement that prophylactic interventions provide substantial long-term benefits. In such situations, where there are some medical benefits and the costs are not prohibitive, it is important to consider the psychosocial implications of screening. This paper reviews the evidence on the psychosocial issues raised by newborn screening for cystic fibrosis, in particular the issues of parental attitudes to screening, the evidence from families with an affected infant, the evidence from families with a carrier infant and the lessons for service delivery.

Reassurance through surveillance in the face of clinical uncertainty: the experience of women at risk of familial breast cancer.

OBJECTIVE: To identify the main issues raised by clinicians when they are counselling women at risk of breast cancer and explore the response of a group of women 1 year after counselling. DESIGN: A qualitative study which involved the thematic analysis of a series of transcripts from clinical consultations, semi-structured interviews and focus groups. PARTICIPANTS: First, a series of clinical consultations (n=153), involving seven clinicians, were randomly selected during a Medical Research Council funded study of genetic assessment (TRACE). Second, a group of women (n=43), involved in the TRACE study, were interviewed, or joined a focus group, 1 year after their genetic assessment. CONCLUSIONS: There was evidence that, although the clinical consultations were embedded with multiple messages of uncertainty, the women's accounts did not reflect this. The women talked about the reassurance they had found because they had met with an expert and become members of the surveillance society. The authors highlight the tension that exists because of the difference between lay expectations about on-going surveillance and the realities of collective service provision.