Abstract
Expanded newborn screening (NBS) for genetic disorders has improved diagnosis of numerous treatable diseases, positively impacting children’s health outcomes. However, research about the psychological impact of expanded NBS on families, especially mothers, has been mixed. Our study examined associations between maternal experiences of expanded NBS and subsequent psychosocial functioning and parenting stress in mothers whose infants received either true negative (TN), true positive (TP) or false positive (FP) results after a 4- to 6-month period. The Parenting Stress Index and the Depression, Anxiety and Stress Scale were used to assess symptoms of anxiety, stress and depression in 3 sets of mothers, whose infants received TN (n = 31), TP (n = 8) or FP (n = 18) results. Multivariate analyses of variance (MANOVA) results revealed no significant differences among these three groups of mothers regarding overall anxiety, stress and depression. However, FP mothers experienced lower levels of stress related to their own health compared to TN group. Two potential trends were also identified; results suggested TN mothers might experience higher levels of isolation than mothers in the TP group and that FP mothers might report higher stress levels in relation to spousal relationships compared to the TN group. FP mothers seemed to report similar or better levels of psychosocial functioning than TN mothers. Our findings are encouraging with respect to impacts of NBS on maternal well-being. We also identify key areas for improvement (parental education) and research (isolation and spousal relationships).
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References
Hanley WB. Newborn screening in Canada - are we out of step? Paediatr Child Health (Oxf). 2005;10:203–7.
Dhondt J-L. Expanded newborn screening: social and ethical issues. J Inherit Metab Dis. 2010;33:S211–S217.
Waisbren SE, Albers S, Amato S, et al. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA. 2003;290:2564–72.
BORN Ontario. Born & Growing Annual Report 2012–2014. 2014: 1-56.
Potter BK, Chakraborty P, Kronick JB, et al. Achieving the ‘triple aim’ for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework. Genet Med. 2013;15:415–22.
Waisbren SE, Weipert CM, Walsh RC, Petty CR, Green RC. Psychosocial factors influencing parental interest in genomic sequencing of newborns. Pediatrics. 2016;137:S30–S35.
Gurian EA. Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics. 2006;117:1915–21.
Tluczek A, Orland KM, Cavanagh L. Psychosocial consequences of false-positive newborn screens for cystic fibrosis. Qual Heal Res. 2011;21:174–86.
Kerruish NJ. Parents’ experiences of newborn screening for genetic susceptibility to type 1 diabetes. J Med Ethics J Inst Med Ethics. 2011;37:348–53.
Tarini BA. Communicating with parents about newborn screening: the skill of eliciting unspoken emotions. Arch Pediatr. 2012;166:95–96.
Rueegg CS, Barben J, Hafen GM, et al. Newborn screening for cystic fibrosis - the parent perspective. J Cyst Fibros. 2015;15:443–51.
Ulph F, Cullinan T, Qureshi N, Kai J. Parents’ responses to receiving sickle cell or cystic fibrosis carrier results for their child following newborn screening. Eur J Hum Genet. 2015;23:459–65.
Bailey DB, Armstrong FD, Kemper AR, Skinner D, Warren SF. Supporting family adaptation to presymptomatic and ‘untreatable’ conditions in an era of expanded newborn screening. J Pediatr Psychol. 2009;34:648–61.
Karaceper MD, Chakraborty P, Coyle D, et al. The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study. Orphanet J Rare Dis. 2016;11:12
Beucher J, Leray E, Deneuville E, et al. Psychological effects of false-positive results in cystic fibrosis newborn screening: a two-year follow-up. J Pediatr. 2010;156:771–6.
Tluczek A. Psychosocial risk associated with newborn screening for cystic fibrosis: parents’ experience while awaiting the sweat-test appointment. Pediatrics. 2005;115:1692–703.
Hewlett J, Waisbren SE. A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening. J Inherit Metab Dis. 2006;29:677–82.
Kerruish N. Parents’ experiences 12 years after newborn screening for genetic susceptibility to type 1 diabetes and their attitudes to whole-genome sequencing in newborns. Genet Med. 2015;18:249–58.
Sroufe LA. Attachment and development: a prospective, longitudinal study from birth to adulthood. Attach Hum Dev. 2005;7:349–67.
Lovibond SH, Lovibond PF. Manual for the Depression Anxiety Stree Scales. 2nd ed. Sydney, NSW, Australia: Pyschology Foundation; 1995.
Abidin RR. Parenting Stress Index. 3rd ed. Odessa, FL: Pyschological Assessment Resources; 1995.
Jackson B, Goodman E. Low social status markers: do they predict depressive symptoms in adolescence? Race Soc Probl. 2011;3:119–28.
Elovainio M, Pulkki-Råback L, Jokela M, et al. Socioeconomic status and the development of depressive symptoms from childhood to adulthood: a longitudinal analysis across 27 years of follow-up in the Young Finns study. Soc Sci Med. 2012;74:923–9.
Rowe H, Fisher J, Quinlivan J. Women who are well informed about prenatal genetic screening delay emotional attachment to their fetus. J Psychosom Obstet Gynecol. 2009;30:34–41.
Schmidt JL, Castellanos-Brown K, Childress S, et al. The impact of false-positive newborn screening results on families: a qualitative study. Genet Med. 2012;14:76–80.
Da Silva FM, Jacob E, Nascimento LC. Impact of childhood cancer on parents’ relationships: an integrative review. J Nurs Scholarsh. 2010;42:250–61.
Tu WJ, He J, Chen H, Shi XD, Li Y. Psychological effects of false-positive results in expanded newborn screening in China. PLoS ONE. 2012;7:e36235.
Frankel LA, Pereira S, McGuire AL. Potential psychosocial risks of sequencing newborns. Pediatrics. 2016;137:S24–29.
Acknowledgements
We thank all the families for their participation. We thank Dr. Michael Miller for his guidance in conducting the statistical analyses and thoughtful discussions.
Funding
This research was funded by Newborn Screening Ontario, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada.
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URLs used in preparation of this article are Locus Link. National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 1999. World Wide Web URL: https://www.ncbi.nlm.nih.gov/pubmed. Online Mendelian Inheritance in Man, OMIM (TM). Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 1999. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.
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O’Connor, K., Jukes, T., Goobie, S. et al. Psychosocial impact on mothers receiving expanded newborn screening results. Eur J Hum Genet 26, 477–484 (2018). https://doi.org/10.1038/s41431-017-0069-z
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DOI: https://doi.org/10.1038/s41431-017-0069-z
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