Evidence map›Paper›PMID 41216676›Full record

ArticleJournal of genetic counseling2025

Healthcare professionals' perspectives on supporting individuals with NF1 during pregnancy and decision-making processes.

Gamze Kaplan, Debbie M Smith, Ming Wai Wan, Emma Burkitt-Wright, Shruti Garg

Abstract read
In one paragraph

Article in Journal of genetic counseling, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Gamze KaplanDivision of Psychology and Mental Health, School of Health Sciences, The University of Manchester, Manchester, UK.ORCID 0000-0003-4613-1359
Debbie M SmithDivision of Psychology and Mental Health, School of Health Sciences, The University of Manchester, Manchester, UK.ORCID 0000-0001-7875-1582
Ming Wai WanDivision of Psychology and Mental Health, School of Health Sciences, The University of Manchester, Manchester, UK.ORCID 0000-0002-5353-786X
Emma Burkitt-WrightManchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.ORCID 0000-0002-2987-8103
Shruti GargDivision of Psychology and Mental Health, School of Health Sciences, The University of Manchester, Manchester, UK.ORCID 0000-0002-4472-4583

Funding

NIHR Manchester Biomedical Research Centre NIHR203308
6 · The paper itself

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition characterized by highly variable presentation, making reproductive decision-making and pregnancy care particularly complex. While previous research has focused largely on clinical outcomes, little is known about how healthcare professionals (HCPs) provide care and communicate with patients during this process. This qualitative study explores the views and experiences of HCPs in providing reproductive and pregnancy-related care for individuals with NF1. Fifteen semi-structured interviews were conducted with genetic counselors, NF specialist nurses, and clinical geneticists in the UK. Reflexive thematic analysis was used to analyze the data. HCPs described supporting informed reproductive choices as central to their role, but this was often complicated by the unpredictable nature of NF1 and varying levels of patient understanding. They emphasized the importance of discussing reproductive choices early, yet found it particularly difficult to offer clear guidance when patients had mild symptoms themselves or drew on diverse family experiences to interpret risk. These challenges were further compounded by systemic barriers, such as limited consultation time, lack of standardized communication tools, and insufficient training. This study highlights the need for more structured and consistent communication practices to support patients with NF1 during reproductive and pregnancy care. A simplified, context-specific visual tool informed by the theoretical domains framework (TDF) may enhance counseling practice.

Indexed as

Decision MakingHealth PersonnelNeurofibromatosis 1AdultFemaleGenetic CounselingHumansMalePregnancyQualitative Researchexpectant parentsgenetic counselingNF parentsNF specialistspreimplantation genetic testing

Identifiers

PMID41216676
PMCPMC12603883

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.