ArticleJournal of genetic counseling2016
Parents' Experiences of Receiving the Initial Positive Newborn Screening (NBS) Result for Cystic Fibrosis and Sickle Cell Disease.
Article in Journal of genetic counseling, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 5 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
41 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022.Orphanet journal of rare diseases · 2026Pooled it
- Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation.International journal of neonatal screening · 2025Guideline
- Psychosocial issues of neonatal screening in the context of its major expansion: a scoping review.Frontiers in psychology · 2025Pooled it
- 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
- Parental experience and information needs following a positive newborn screening test-based neonatal diagnosis of a chronic condition: an integrative review.International journal of nursing studies advances · 2026Review
- 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
- Parents' Experiences of Receiving a Severe Combined Immunodeficiency (SCID) or Non-SCID T-Cell Lymphopenia Outcome During the Newborn Screening Evaluation in England.International journal of neonatal screening · 2026Article
- 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
- What Is at Stake in Genetic Newborn Screening for Rare Diseases? An Exploratory Qualitative Study of Parents' and Expectant Parents' Concerns in the Screen4Care Project.Public health genomics · 2026Article
- Sickle cell disease screening: Experiences of parents with positive newborns at Korle Bu TeachingHospital.PloS one · 2026Article
- 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
- Evidence of inequities experienced by the rare disease community with respect to receipt of a diagnosis and access to services: a scoping review of UK and international evidence.Orphanet journal of rare diseases · 2025Article
- Development of an Online Scenario-Based Tool to Enable Research Participation and Public Engagement in Cystic Fibrosis Newborn Screening: Mixed Methods Study.Journal of participatory medicine · 2025Article
- Understanding the psychological impact of identifying carrier status on young adults: A qualitative study exploring peer reactions.Journal of genetic counseling · 2025Article
- Article
- Psychosocial Impact of False-Positive Newborn Screening Results: A Scoping Review.Children (Basel, Switzerland) · 2024Article
- Current Methods of Newborn Screening Follow-Up for Sickle Cell Disease Are Highly Variable and without Quality Assurance: Results from the ENHANCE Study.International journal of neonatal screening · 2024Article
- Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy.Journal of neuromuscular diseases · 2024Article
- Caring for a Child with Congenital Adrenal Hyperplasia Diagnosed by Newborn Screening: Parental Health-Related Quality of Life, Coping Patterns, and Needs.International journal of environmental research and public health · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The clinical advantages of the newborn screening programme (NBS) in the UK are well described in the literature. However, there has been little exploration of the psychosocial impact on the family. This study followed the principles of grounded theory to explore parents' experiences of receiving the initial positive NBS result for their child with cystic fibrosis (CF) or sickle cell disease (SCD). Semi-structured, qualitative interviews were conducted with 22 parents (12 mothers and 10 fathers) whose children had been diagnosed with CF or SCD via NBS and were under the age of 1 year at the time of interview. The main themes that arose from the data were; parents previous knowledge of the condition and the NBS programme, the method of delivery and parental reactions to the result, sharing the results with others, the impact on parental relationships and support strategies. Study conclusions indicate that most parents thought initial positive NBS results should be delivered by a health professional with condition specific knowledge, preferably with both parents present. Genetic counselling needs to include a focus on the impact of NBS results on parental relationships. Careful consideration needs to be given to strategies to support parents of babies who have positive NBS results both in terms of the psychological health and to assist them in sharing the diagnosis.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.