title: Parents' responses to receiving sickle cell or cystic fibrosis carrier results for their child following newborn screening.
abstract: Universal newborn screening for sickle cell disorders and cystic fibrosis aims to enable the early identification and treatment of affected babies. Screening can also identify infants who are healthy carriers, with carrier results being the commonest outcome for parents and professionals to discuss in practice. However it is unclear what the effect will be on parents on being informed of their baby's carrier result. Semi-structured face-to-face interviews were conducted with a purposeful sample of 67 family members (49 mothers, 16 fathers, 2 grandparents) of 51 infants identified by universal newborn screening as carriers of cystic fibrosis (n=27) and sickle cell (n=24), across all health regions in England. Data were analysed by thematic analysis with subsequent respondent validation. Untoward anxiety or distress among parents appeared influenced by how results were conveyed, rather than the carrier result per se. Parents who had more prior awareness of carrier status or the possibility of a carrier result assimilated the information more readily. Being left in an information vacuum while awaiting results, or before seeing a professional, led some parents to fear that their child had a serious health condition. Parental distress and anxiety appeared mostly transient, subsiding with understanding of carrier status and communication with a professional. Parents regarded carrier results as valuable information and sought to share this with their families and to inform their children in the future. However parents needed greater support after communication of results in considering and accessing cascade testing, and negotiating further communication within their families.
authors.affiliation: University of Manchester, Manchester, UK.
authors.forename: Fiona
authors.initials: F
authors.lastname: Ulph
authors.affiliation: East Staffordshire Clinical Commissioning Group, Burton-on-Trent, UK.
authors.forename: Tim
authors.initials: T
authors.lastname: Cullinan
authors.affiliation: University of Nottingham, Nottingham, UK.
authors.forename: Nadeem
authors.initials: N
authors.lastname: Qureshi
authors.affiliation: University of Nottingham, Nottingham, UK.
authors.forename: Joe
authors.initials: J
authors.lastname: Kai
mesh_terms: D000755:Anemia, Sickle Cell / Q000175:diagnosis* / Q000235:genetics; D003142:Communication; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D005820:Genetic Testing; D007722:Health Knowledge, Attitudes, Practice; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D010290:Parents / Q000523:psychology*; D013315:Stress, Psychological; D014342:Truth Disclosure; D006113:United Kingdom