Newborn screening for cystic fibrosis - The parent perspective

Corina S Rueegg; Jürg Barben; Gaudenz M Hafen; Alexander Moeller; Maja Jurca; Ralph Fingerhut; Claudia E Kuehni; Swiss Cystic Fibrosis Screening Group

doi:10.1016/j.jcf.2015.12.003

Newborn screening for cystic fibrosis - The parent perspective

J Cyst Fibros. 2016 Jul;15(4):443-51. doi: 10.1016/j.jcf.2015.12.003. Epub 2015 Dec 29.

Authors

Corina S Rueegg¹, Jürg Barben², Gaudenz M Hafen³, Alexander Moeller⁴, Maja Jurca⁵, Ralph Fingerhut⁶, Claudia E Kuehni⁷; Swiss Cystic Fibrosis Screening Group

Affiliations

¹ Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland; Department of Health Sciences and Health Policy, University of Lucerne, Lucerne, Switzerland.
² Division of Pediatric Pulmonology, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland.
³ Department of Pediatrics, Respiratory Unit, University Hospital of Lausanne (CHUV), Lausanne, Switzerland.
⁴ Division of Respiratory Medicine, University Children's Hospital of Zurich, Zurich, Switzerland.
⁵ Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
⁶ Swiss Newborn Screening Laboratory, University Children's Hospital Zurich, Zurich, Switzerland.
⁷ Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland. Electronic address: claudia.kuehni@ispm.unibe.ch.

PMID: 26751132
DOI: 10.1016/j.jcf.2015.12.003

Abstract

Background: Newborn screening for CF started 01/2011 in Switzerland. We investigated the parents' opinions about the information received, their feelings, and overall approval of the screening.

Methods: This is a prospective questionnaire survey of all parents of positively screened children. Parents were phoned by CF-centres and invited for diagnostic investigations. They completed a questionnaire after the visit to the CF-centre.

Results: From 2011-2013, 246 families received the questionnaire and 138 (56%) replied. Of these 77 (60%) found the information received at birth satisfactory; 124 (91%) found the information provided in the CF-centre satisfactory. Most parents (n=98, 78%) felt troubled or anxious when the CF-centre called, 51 (38%) remained anxious after the visit. Most parents (n=122; 88%) were satisfied with the screening, 4 (3%) were not, and 12 (9%) were unsure.

Conclusions: The smooth organisation of the screening process, with personal information by a CF specialist and short delays between this information and the final diagnostic testing, might have contributed to reduce anxiety among parents. Most families were grateful that their child had been screened, and are happy with the process.

Keywords: Cystic fibrosis; False-positives; Newborn screening; Parents.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Consumer Behavior
Consumer Health Information* / methods
Consumer Health Information* / organization & administration
Consumer Health Information* / standards
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Cystic Fibrosis* / diagnosis
Cystic Fibrosis* / epidemiology
Cystic Fibrosis* / genetics
Cystic Fibrosis* / psychology
Female
Genetic Testing / methods
Humans
Infant, Newborn
Male
Needs Assessment
Neonatal Screening* / organization & administration
Neonatal Screening* / psychology
Neonatal Screening* / standards
Parents / psychology
Perinatal Care / methods
Perinatal Care / organization & administration
Pregnancy
Surveys and Questionnaires
Switzerland / epidemiology

Substances

Cystic Fibrosis Transmembrane Conductance Regulator