Literature DB >> 24306142

Informing children of their newborn screening carrier result for sickle cell or cystic fibrosis: qualitative study of parents' intentions, views and support needs.

Fiona Ulph1, Tim Cullinan, Nadeem Qureshi, Joe Kai.   

Abstract

Newborn screening for cystic fibrosis and sickle cell disease enables the early identification and treatment of affected children, prolonging and enhancing their quality of life. Screening, however, also identifies carriers. There are minimal or no health concerns for carriers. There are, however, potential implications when carriers reach reproductive age, and thus research attention has been given to how best to convey information about these implications in a meaningful, balanced way which does not raise undue anxieties. Most research focuses on the communication from health professional to parent, yet ultimately this information is of greatest significance to the child. This study examines parents' intentions to inform their child of newborn screening carrier results. Semi-structured interviews with 67 family members explored their intentions to inform the child, and related views and support needs. Parents almost unanimously indicated they planned to inform the child themselves. Health professionals were expected, however, to provide guidance on this process either to parents through advice and provision of written materials, or directly to the child. Although parents initially stated that they would convey the result once their child had developed the ability to understand the information, many appeared to focus on discrete life events linked to informed reproductive decision making. The results highlight ways in which health care providers may assist parents, including providing written material suitable for intergenerational communication and ensuring that cascade screening is accessible for those seeking it. Priorities for further research are identified in light of the results.

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Year:  2013        PMID: 24306142     DOI: 10.1007/s10897-013-9675-2

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  53 in total

1.  Effect of family history on disclosure patterns of cystic fibrosis carrier status.

Authors:  Kelly E Ormond; Patti L Mills; Lucille A Lester; Lainie F Ross
Journal:  Am J Med Genet C Semin Med Genet       Date:  2003-05-15       Impact factor: 3.908

2.  Facilitating family communication about predictive genetic testing: probands' perceptions.

Authors:  Clara L Gaff; Veronica Collins; Tiffany Symes; Jane Halliday
Journal:  J Genet Couns       Date:  2005-04       Impact factor: 2.537

Review 3.  A model for the development of genetics education programs for health professionals.

Authors:  Clara L Gaff; MaryAnne Aitken; Anna Flouris; Sylvia A Metcalfe
Journal:  Genet Med       Date:  2007-07       Impact factor: 8.822

4.  Parental receptivity to neonatal sickle trait identification.

Authors:  P T Rowley
Journal:  Pediatrics       Date:  1989-05       Impact factor: 7.124

5.  Newborn screening for CF in a regional paediatric centre: the psychosocial effects of false-positive IRT results on parents.

Authors:  Janette Moran; Kirsten Quirk; Alistair J A Duff; Keith G Brownlee
Journal:  J Cyst Fibros       Date:  2006-10-23       Impact factor: 5.482

6.  The genetic testing of children. Working Party of the Clinical Genetics Society (UK)

Authors:  A Clarke
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318

7.  Is there a case in favour of predictive genetic testing in young children?

Authors:  S Robertson; J Savulescu
Journal:  Bioethics       Date:  2001-02       Impact factor: 1.898

8.  Prenatal sickle cell screening education effect on the follow-up rates of infants with sickle cell trait.

Authors:  Y M Yang; S Andrews; R Peterson; A Shah; M Cepeda
Journal:  Patient Educ Couns       Date:  2000-02

9.  Communication about genetic testing in families of male BRCA1/2 carriers and non-carriers: patterns, priorities and problems.

Authors:  N Hallowell; A Ardern-Jones; R Eeles; C Foster; A Lucassen; C Moynihan; M Watson
Journal:  Clin Genet       Date:  2005-06       Impact factor: 4.438

10.  Genetic testing for hereditary colorectal cancer in children: long-term psychological effects.

Authors:  Ann-Marie Codori; Kristin L Zawacki; Gloria M Petersen; Diana L Miglioretti; Judith A Bacon; Jill D Trimbath; Susan V Booker; Kimberly Picarello; Francis M Giardiello
Journal:  Am J Med Genet A       Date:  2003-01-15       Impact factor: 2.802

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  10 in total

1.  Sickle cell carriers' unmet information needs: Beyond knowing trait status.

Authors:  Tilicia L Mayo-Gamble; David Schlundt; Jennifer Cunningham-Erves; Velma McBride Murry; Kemberlee Bonnet; Delores Quasie-Woode; Charles P Mouton
Journal:  J Genet Couns       Date:  2019-04-10       Impact factor: 2.537

2.  Disparities in current and future childhood and newborn carrier identification.

Authors:  Melissa Noke; Alison Wearden; Sarah Peters; Fiona Ulph
Journal:  J Genet Couns       Date:  2014-07-11       Impact factor: 2.537

3.  Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents' associations.

Authors:  Gregorio Serra; Luigi Memo; Alessandra Coscia; Mario Giuffré; Ambra Iuculano; Mariano Lanna; Diletta Valentini; Anna Contardi; Sauro Filippeschi; Tiziana Frusca; Fabio Mosca; Luca A Ramenghi; Corrado Romano; Annalisa Scopinaro; Alberto Villani; Giuseppe Zampino; Giovanni Corsello
Journal:  Ital J Pediatr       Date:  2021-04-19       Impact factor: 2.638

4.  Training Genetic Counsellors to Deliver an Innovative Therapeutic Intervention: their Views and Experience of Facilitating Multi-Family Discussion Groups.

Authors:  Ivan Eisler; Frances Flinter; Jo Grey; Suzanne Hutchison; Carole Jackson; Louise Longworth; Rhona MacLeod; Marion McAllister; Alison Metcalfe; Christine Patch; Buddug Cope; Glenn Robert; Emma Rowland; Fiona Ulph
Journal:  J Genet Couns       Date:  2016-10-10       Impact factor: 2.537

Review 5.  Constructing a Bioethical Framework to Evaluate and Optimise Newborn Bloodspot Screening for Cystic Fibrosis.

Authors:  Rachael E Armstrong; Lucy Frith; Fiona M Ulph; Kevin W Southern
Journal:  Int J Neonatal Screen       Date:  2020-05-26

Review 6.  Processing Newborn Bloodspot Screening Results for CF.

Authors:  Jürg Barben; Jane Chudleigh
Journal:  Int J Neonatal Screen       Date:  2020-03-25

Review 7.  Absorbing it all: A meta-ethnography of parents' unfolding experiences of newborn screening.

Authors:  Ashley L White; Felicity Boardman; Abigail McNiven; Louise Locock; Lisa Hinton
Journal:  Soc Sci Med       Date:  2021-09-03       Impact factor: 4.634

8.  Health services use by children identified as heterozygous hemoglobinopathy mutation carriers via newborn screening.

Authors:  Sara D Khangura; Beth K Potter; Christine Davies; Robin Ducharme; A Brianne Bota; Steven Hawken; Kumanan Wilson; Maria D Karaceper; Robert J Klaassen; Julian Little; Ewurabena Simpson; Pranesh Chakraborty
Journal:  BMC Pediatr       Date:  2021-07-01       Impact factor: 2.125

9.  Developing an intervention to facilitate family communication about inherited genetic conditions, and training genetic counsellors in its delivery.

Authors:  Ivan Eisler; Matthew Ellison; Frances Flinter; Jo Grey; Suzanne Hutchison; Carole Jackson; Louise Longworth; Rhona MacLeod; Marion McAllister; Alison Metcalfe; Trevor Murrells; Christine Patch; Stuart Pritchard; Glenn Robert; Emma Rowland; Fiona Ulph
Journal:  Eur J Hum Genet       Date:  2015-10-07       Impact factor: 4.246

10.  Parents' Experiences of Receiving the Initial Positive Newborn Screening (NBS) Result for Cystic Fibrosis and Sickle Cell Disease.

Authors:  Jane Chudleigh; Sarah Buckingham; Jo Dignan; Sandra O'Driscoll; Kemi Johnson; David Rees; Hilary Wyatt; Alison Metcalfe
Journal:  J Genet Couns       Date:  2016-04-20       Impact factor: 2.537

  10 in total

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