ArticleEuropean journal of human genetics : EJHG2015
Parents' responses to receiving sickle cell or cystic fibrosis carrier results for their child following newborn screening.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
39 citing papers in PubMed, 4 syntheses or guidelines pooled it, 63 citations in OpenAlex.
- Benefits and harms of antenatal and newborn screening programmes in health economic assessments: the VALENTIA systematic review and qualitative investigation.Health technology assessment (Winchester, England) · 2024Pooled it
- Absorbing it all: A meta-ethnography of parents' unfolding experiences of newborn screening.Social science & medicine (1982) · 2021Pooled it
- Barriers and facilitators for cascade testing in genetic conditions: a systematic review.European journal of human genetics : EJHG · 2020Pooled it
- The Role of Information Provision in Economic Evaluations of Newborn Bloodspot Screening: A Systematic Review.Applied health economics and health policy · 2015Pooled it
- Exploring the impact on intrafamilial support systems when newborn screening programmes contact parents with an initial screen positive result.European journal of human genetics : EJHG · 2026Review
- Parental Views on the Psychosocial Impact of False-Positive Results Following Newborn Screening for Severe Combined Immunodeficiency in England.International journal of neonatal screening · 2026Article
- Cascade counselling and testing. Recommendations of the European Society of Human Genetics.European journal of human genetics : EJHG · 2026Article
- Sickle cell disease screening: Experiences of parents with positive newborns at Korle Bu TeachingHospital.PloS one · 2026Article
- Osteogenesis imperfecta and the family: A qualitative analysis of the experiences of family and caregivers.Families, systems & health : the journal of collaborative family healthcare · 2025Article
- Communication of an Abnormal Metabolic Newborn Screening Result in the Netherlands: A Qualitative Exploratory Study of the General Practitioner's Perspective.International journal of neonatal screening · 2025Article
- Understanding the psychological impact of identifying carrier status on young adults: A qualitative study exploring peer reactions.Journal of genetic counseling · 2025Article
- Familial communication and cascade testing following elective genomic testing.Journal of genetic counseling · 2025Article
- Psychosocial Impact of False-Positive Newborn Screening Results: A Scoping Review.Children (Basel, Switzerland) · 2024Article
- Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers.Orphanet journal of rare diseases · 2024Article
- A Multicentre Italian Study on the Psychological Impact of an Inconclusive Cystic Fibrosis Diagnosis after Positive Neonatal Screening.Children (Basel, Switzerland) · 2023Article
- Parental Preferences about Policy Options Regarding Disclosure of Incidental Genetic Findings in Newborn Screening: Using Videos and the Internet to Educate and Obtain Input.International journal of neonatal screening · 2022Article
- Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis.International journal of neonatal screening · 2022Review
- Communication of an Abnormal Metabolic New-Born Screening Result in The Netherlands: The Parental Perspective.Nutrients · 2022Article
- Co-designing Improved Communication of Newborn Bloodspot Screening Results to Parents: Mixed Methods Study.Journal of participatory medicine · 2022Article
- Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
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.
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Registered trials
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