To know or not to know, disclosure of a newborn carrier screening test result for cystic fibrosis
| Autor: | Annette M. M. Vernooij-van Langen, Sylvia M. van der Pal, Edward Dompeling, J.E. Dankert-Roelse, Sandra Reijntjens, J. Gerard Loeber |
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| Přispěvatelé: | Ondersteunend personeel PHPC, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: CAPHRI School for Public Health and Primary Care |
| Rok vydání: | 2012 |
| Předmět: |
Newborn screening
Adult Male Parents medicine.medical_specialty Heterozygote Cystic Fibrosis Disclosure Cystic fibrosis Focus group Neonatal Screening Genetics medicine Humans Genetic Testing Genetics (clinical) business.industry Infant Newborn General Medicine medicine.disease Test (assessment) Family planning Family medicine Carrier status Right to know Female Carrier DNA analysis business Carrier screening |
| Zdroj: | European Journal of Medical Genetics, 56(4), 192-196. Elsevier |
| ISSN: | 1878-0849 1769-7212 |
| Popis: | Purpose: Most newborn screening (NBS) strategies for Cystic Fibrosis (CF) also identify carriers. However, it is unclear if parents want to be informed about their child's carrier status or not. Methods: Focus group discussions with pregnant couples to explore their opinions about disclosure of a carrier result for CF of their newborn. Results: All (n = 30) wanted to be informed when newborn screening would show their newborn being a CF-carrier. Their main reason was the implication of this knowledge for further family planning. Other family members could be informed and children within the family could be tested. Parents stated they have the right to know, but others also expressed that the choice of not being informed should be offered as well. Conclusion: Most parents want to be informed when NBS for CF reveals that their child is a CF-carrier, but the choice of not being informed should also be offered. © 2013 Elsevier Masson SAS. |
| Databáze: | OpenAIRE |
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