A secondary benefit: the reproductive impact of carrier results from newborn screening for cystic fibrosis.
Newborn screening (NBS) for cystic fibrosis (CF) can identify carriers, which is considered a benefit that enables reproductive planning. We examined the reproductive impact of carrier result disclosure of NBS for CF.



We surveyed mothers of carrier infants after NBS (Time 1) and 1 year later (Time 2) to ascertain intended and reported communication of their infants' carrier results to relatives, carrier testing for themselves/other children, and reproductive decisions. A sub-sample of mothers was also interviewed at Time 1 and Time 2.



The response rate was 54%. A little more than half (55%) of mothers underwent carrier testing at Time 1; another 40% of those who intended to undergo testing at Time 1 underwent testing at Time 2. Carrier result communication to relatives was high (92%), but a majority of participants did not expect the results to influence family planning (65%). All interviewed mothers valued learning their infants' carrier results. Some underwent carrier testing and then shared results with family. Others did not use the results or used them in unintended ways.



Although mothers valued learning carrier results from NBS, they reported moderate uptake of carrier testing and limited influence on family planning. Our study highlights the secondary nature of the benefit of disclosing carrier results of NBS.Genet Med 19 4, 403-411.
Li Ka Shing Knowledge Institute of St. Michael's Hospital, Toronto, Ontario, Canada.|Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
Yvonne
Y
Bombard
Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
Fiona A
0000-0003-4953-6255
FA
Miller
Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
Carolyn J
CJ
Barg
Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
Sarah J
SJ
Patton
Department of Family and Community Medicine, Sinai Health System, University of Toronto, Toronto, Ontario, Canada.
June C
0000-0002-5893-4194
JC
Carroll
Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.|Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.
Pranesh
P
Chakraborty
Department of Epidemiology and Community Medicine, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.
Beth K
BK
Potter
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Karen
0000-0002-4269-5643
K
Tam
Division of Respiratory Medicine, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Louise
L
Taylor
Department of Psychology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Elizabeth
0000-0002-9589-6502
E
Kerr
Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Christine
C
Davies
Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Jennifer
J
Milburn
Division of Respiratory Medicine, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Felix
F
Ratjen
Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.|Institute for Clinical Evaluative Sciences, Toronto, Ontario, Canada.|Division of Paediatric Medicine, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.|Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Ontario, Canada.
Astrid
A
Guttmann
Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.|Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Ontario, Canada.
Robin Z
RZ
Hayeems
D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D030881:Disclosure; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006306:Health Surveys; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008137:Longitudinal Studies; D008297:Male; D009035:Mothers / Q000523:psychology*; D015997:Neonatal Screening / Q000379:methods* / Q000523:psychology; D011446:Prospective Studies; D012098:Reproduction