To know or not to know, disclosure of a newborn carrier screening test result for cystic fibrosis.
OBJECTIVE
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.


CONCLUSIONS
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.
Atrium Medical Centre, Department of Research and Innovation, PO box 4446, 6401 CX Heerlen, The Netherlands. amm.vernooij+chopin@gmail.com
Annette M M
AM
Vernooij-van Langen
Sandra
S
Reijntjens
Sylvia M
SM
van der Pal
J Gerard
JG
Loeber
Edward
E
Dompeling
Jeannette E
JE
Dankert-Roelse
D000328:Adult; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D030881:Disclosure; D005260:Female; D005820:Genetic Testing / Q000941:ethics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000941:ethics* / Q000523:psychology; D010290:Parents / Q000523:psychology