Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents
Abstract
:1. Introduction
2. Materials and Methods
2.1. Design
2.2. Setting
2.3. Participants and Procedure
2.4. Measures
2.5. Data Analysis
3. Results
3.1. Study Population
3.2. Perceptions of NBS
3.3. Psychosocial Impact of NBS Result
3.3.1. Emotions Regarding Test Result at Different Time Points
3.3.2. Perceptions of Child Vulnerability, Child’s Well-Being, and Parenting
3.4. Healthcare Utilization
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
- Cornel, M.C.; Rigter, T.; Jansen, M.E.; Henneman, L. Neonatal and carrier screening for rare diseases: How innovation challenges screening criteria worldwide. J. Community Genet. 2021, 12, 257–265. [Google Scholar] [CrossRef]
- Furnier, S.M.; Durkin, M.S.; Baker, M.W. Translating molecular technologies into routine newborn screening practice. Int. J. Neonatal Screen. 2020, 6, 80. [Google Scholar] [CrossRef]
- Levy, H.L. Ethical and psychosocial implications of genomic newborn screening. Int. J. Neonatal Screen. 2021, 7, 2. [Google Scholar] [CrossRef]
- van Dijk, T.; Kater, A.; Jansen, M.; Dondorp, W.J.; Blom, M.; Kemp, S.; Langeveld, M.; Cornel, M.C.; van der Pal, S.M.; Henneman, L. Expanding neonatal bloodspot screening: A multi-stakeholder perspective. Front. Pediatr. 2021, 9, 706394. [Google Scholar] [CrossRef]
- Tluczek, A.; Ersig, A.L.; Lee, S. Psychosocial issues related to newborn screening: A systematic review and synthesis. Int. J. Neonatal Screen. 2022, 8, 53. [Google Scholar] [CrossRef]
- Pruniski, B.; Lisi, E.; Ali, N. Newborn screening for Pompe disease: Impact on families. J. Inherit. Metab. Dis. 2018, 41, 1189–1203. [Google Scholar] [CrossRef]
- Tarini, B.A. The current revolution in newborn screening: New technology, old controversies. Arch. Pediatr. Adolesc. Med. 2007, 161, 767–772. [Google Scholar] [CrossRef]
- Hewlett, J.; Waisbren, S.E. 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, 677–682. [Google Scholar] [CrossRef]
- Perobelli, S.; Zanolla, L.; Tamanini, A.; Rizzotti, P.; Maurice Assael, B.; Castellani, C. Inconclusive Cystic Fibrosis neonatal screening results: Long-term psychosocial effects on parents. Acta Paediatr. 2009, 98, 1927–1934. [Google Scholar] [CrossRef]
- Fyro, K.; Bodegard, G. Four-year follow-up of psychological reactions to false positive screening tests for congenital hypothyroidism. Acta Paediatr. Scand. 1987, 76, 107–114. [Google Scholar] [CrossRef]
- Waisbren, S.E.; Albers, S.; Amato, S.; Ampola, M.; Brewster, T.G.; Demmer, L.; Eaton, R.B.; Greenstein, R.; Korson, M.; Larson, C.; et al. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA 2003, 290, 2564–2572. [Google Scholar] [CrossRef]
- Tluczek, A.; Orland, K.M.; Cavanagh, L. Psychosocial Consequences of False-Positive Newborn Screens for Cystic Fibrosis. Qual. Health Res. 2011, 21, 174–186. [Google Scholar] [CrossRef]
- Gurian, E.A.; Kinnamon, D.D.; Henry, J.J.; Waisbren, S.E. Expanded newborn screening for biochemical disorders: The effect of a false-positive result. Pediatrics 2006, 117, 1915–1921. [Google Scholar] [CrossRef]
- Karaceper, M.D.; Chakraborty, P.; Coyle, D.; Wilson, K.; Kronick, J.B.; Hawken, S.; Davies, C.; Brownell, M.; Dodds, L.; Feigenbaum, A.; 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. [Google Scholar] [CrossRef]
- Hayeems, R.Z.; Miller, F.A.; Vermeulen, M.; Potter, B.K.; Chakraborty, P.; Davies, C.; Carroll, J.C.; Ratjen, F.; Guttmann, A. False-positive newborn screening for Cystic Fibrosis and health care use. Pediatrics 2017, 140, e20170604. [Google Scholar] [CrossRef]
- Tu, W.J.; He, J.; Chen, H.; Shi, X.D.; Li, Y. Psychological effects of false-positive results in expanded newborn screening in China. PLoS ONE 2012, 7, e36235. [Google Scholar] [CrossRef]
- Beucher, J.; Leray, E.; Deneuville, E.; Roblin, M.; Pin, I.; Bremont, F.; Turck, D.; Ginies, J.L.; Foucaud, P.; Rault, G.; et al. Psychological effects of false-positive results in cystic fibrosis newborn screening: A two-year follow-up. J. Pediatr. 2010, 156, 771–776.e1. [Google Scholar] [CrossRef]
- Hayeems, R.Z.; Miller, F.A.; Barg, C.J.; Bombard, Y.; Kerr, E.; Tam, K.; Carroll, J.C.; Potter, B.K.; Chakraborty, P.; Davies, C.; et al. Parent experience with false-positive newborn screening results for Cystic Fibrosis. Pediatrics 2016, 138, e20161052. [Google Scholar] [CrossRef]
- O’Connor, K.; Jukes, T.; Goobie, S.; DiRaimo, J.; Moran, G.; Potter, B.K.; Chakraborty, P.; Rupar, C.A.; Gannavarapu, S.; Prasad, C. Psychosocial impact on mothers receiving expanded newborn screening results. Eur. J. Hum. Genet. 2018, 26, 477–484. [Google Scholar] [CrossRef]
- Vernooij-van Langen, A.M.; van der Pal, S.M.; Reijntjens, A.J.; Loeber, J.G.; Dompeling, E.; Dankert-Roelse, J.E. Parental knowledge reduces long term anxiety induced by false-positive test results after newborn screening for cystic fibrosis. Mol. Genet. Metab. Rep. 2014, 1, 334–344. [Google Scholar] [CrossRef]
- Tarini, B.A.; Clark, S.J.; Pilli, S.; Dombkowski, K.J.; Korzeniewski, S.J.; Gebremariam, A.; Eisenhandler, J.; Grigorescu, V. False-positive newborn screening result and future health care use in a state Medicaid cohort. Pediatrics 2011, 128, 715–722. [Google Scholar] [CrossRef]
- Lipstein, E.A.; Perrin, J.M.; Waisbren, S.E.; Prosser, L.A. Impact of false-positive newborn metabolic screening results on early health care utilization. Genet. Med. 2009, 11, 716–721. [Google Scholar] [CrossRef]
- van der Pal, S.M.; Wins, S.; Klapwijk, J.E.; van Dijk, T.; Kater-Kuipers, A.; van der Ploeg, C.P.B.; Jans, S.; Kemp, S.; Verschoof-Puite, R.K.; van den Bosch, L.J.M.; et al. Parents’ views on accepting, declining, and expanding newborn bloodspot screening. PLoS ONE 2022, 17, e0272585. [Google Scholar] [CrossRef]
- van der Ploeg, C.P.B.; van der Mast, O.; Eekhout, I.; Verkerk, P.H. The Newborn Blood Spot Screening in the Netherlands-Monitor 2021; R11247; TNO: Leiden, The Netherlands, 2022. [Google Scholar]
- Blom, M.; Bredius, R.G.M.; Jansen, M.E.; Weijman, G.; Kemper, E.A.; Vermont, C.L.; Hollink, I.; Dik, W.A.; van Montfrans, J.M.; van Gijn, M.E.; et al. Parents’ perspectives and societal acceptance of implementation of newborn screening for SCID in the Netherlands. J. Clin. Immunol. 2021, 41, 99–108. [Google Scholar] [CrossRef]
- Spinhoven, P.; Ormel, J.; Sloekers, P.P.; Kempen, G.I.; Speckens, A.E.; van Hemert, A.M. A validation study of the Hospital Anxiety and Depression Scale (HADS) in different groups of Dutch subjects. Psychol. Med. 1997, 27, 363–370. [Google Scholar] [CrossRef]
- Forsyth, B.W.; Horwitz, S.M.; Leventhal, J.M.; Burger, J.; Leaf, P.J. The child vulnerability scale: An instrument to measure parental perceptions of child vulnerability. J. Pediatr. Psychol. 1996, 21, 89–101. [Google Scholar] [CrossRef]
- Houtzager, B.A.; Moller, E.L.; Maurice-Stam, H.; Last, B.F.; Grootenhuis, M.A. Parental perceptions of child vulnerability in a community-based sample: Association with chronic illness and health-related quality of life. J. Child. Health Care 2015, 19, 454–465. [Google Scholar] [CrossRef]
- Fekkes, M.; Theunissen, N.C.; Brugman, E.; Veen, S.; Verrips, E.G.; Koopman, H.M.; Vogels, T.; Wit, J.M.; Verloove-Vanhorick, S.P. Development and psychometric evaluation of the TAPQOL: A health-related quality of life instrument for 1–5-year-old children. Qual. Life Res. 2000, 9, 961–972. [Google Scholar] [CrossRef]
- Bunge, E.M.; Essink-Bot, M.L.; Kobussen, M.P.; van Suijlekom-Smit, L.W.; Moll, H.A.; Raat, H. Reliability and validity of health status measurement by the TAPQOL. Arch. Dis. Child. 2005, 90, 351–358. [Google Scholar] [CrossRef]
- Questionnaire to Visit the Child Health Clinic When Your Child Is about 18 Months Old. Available online: https://www.jgzzhw.nl/assets/images/default/Vragenlijsten/Kind-18-maanden-ouders-vragenlijst.pdf (accessed on 13 January 2022). (In Dutch).
- Bouwmans, C.A.M.; Shawo, S.; Hakkaart-Van Roijen, L. Handleiding Vragenlijst TiC-P Voor Kinderen; iMTA, Erasmus Universiteit Rotterdam: Rotterdam, The Netherlands, 2012. (In Dutch) [Google Scholar]
- Hakkaart-van Roijen, L.; Zwirs, B.W.; Bouwmans, C.; Tan, S.S.; Schulpen, T.W.; Vlasveld, L.; Buitelaar, J.K. Societal costs and quality of life of children suffering from attention deficient hyperactivity disorder (ADHD). Eur. Child. Adolesc. Psychiatry 2007, 16, 316–326. [Google Scholar] [CrossRef]
- Morrison, D.R.; Clayton, E.W. False positive newborn screening results are not always benign. Public. Health Genomics 2011, 14, 173–177. [Google Scholar] [CrossRef]
- Kariyawasam, D.S.T.; D’Silva, A.M.; Vetsch, J.; Wakefield, C.E.; Wiley, V.; Farrar, M.A. “We needed this”: Perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy. EClinicalMedicine 2021, 33, 100742. [Google Scholar] [CrossRef]
- DeLuca, J.M.; Kearney, M.H.; Norton, S.A.; Arnold, G.L. Parents’ experiences of expanded newborn screening evaluations. Pediatrics 2011, 128, 53–61. [Google Scholar] [CrossRef]
- IJzebrink, A.; van Dijk, T.; Franková, V.; Loeber, G.; Kožich, V.; Henneman, L.; Jansen, M. Informing parents about newborn screening: A European comparison study. Int. J. Neonatal Screen. 2021, 7, 13. [Google Scholar] [CrossRef]
- Clinical and Laboratory Standards Institute (CLSI). Newborn Screening for Preterm, Low Birth Weight, and Sick Newborns, 2nd ed.; CLSI Guideline; Clinical and Laboratory Standards Institute (CLSI): Wayne, PA, USA, 2019. [Google Scholar]
Total N = 380 | Cases N = 112 | Controls N = 268 | p-Value c | |||
---|---|---|---|---|---|---|
Characteristics of the parent(s) a | TP N = 35 | FP N = 20 | IC N = 57 | |||
T1 questionnaire filled in by, n (%) | 0.829 | |||||
Mother | 301 (79) | 32 (91) | 15 (75) | 40 (70) | 214 (80) | |
Father | 31 (8) | 0 (0) | 2 (10) | 8 (14) | 21 (8) | |
Mother and father | 46 (12) | 3 (9) | 3 (15) | 9 (16) | 31 (11) | |
Missing | 2 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (1) | |
Age parent completing questionnaire, mean (SD) | 32.0 (4.2) | 32.0 (4.8) | 32.5 (4.3) | 32.2 (4.7) | 32.0 (4.1) | 0.661 |
Marital status, n (%) | 0.529 | |||||
Single | 10 (3) | 0 (0) | 1 (5) | 1 (2) | 8 (3) | |
Married/living together | 367 (96) | 35 (100) | 18 (90) | 54 (95) | 260 (97) | |
Missing | 3 (1) | 0 (0) | 1 (5) | 2 (3) | 0 (0) | |
Education level, n (%) | 0.298 | |||||
Low | 12 (3) | 2 (5) | 0 (0) | 3 (5) | 7 (3) | |
Middle | 115 (30) | 16 (46) | 5 (25) | 17 (30) | 77 (29) | |
High | 250 (66) | 17 (49) | 14 (70) | 36 (63) | 183 (68) | |
Missing | 3 (1) | 0 (0) | 1 (5) | 1 (2) | 1 (0) | |
Both parents born in the Netherlands, n (%) | 329 (87) | 28 (80) | 15 (75) | 49 (86) | 237 (88) | 0.101 |
Number of children b, mean (SD) | 1.8 (0.9) | 1.9 (1.3) | 1.8 (1.0) | 1.6 (0.7) | 1.8 (0.9) | 0.515 |
Characteristics of the newborn | ||||||
Average age in weeks at T1, mean (SD) | 7.8 (1.9) | 8.5 (2.2) | 8.3 (1.9) | 8.4 (2.2) | 7.6 (1.7) | <0.001 *** |
Average age in weeks at T2, mean (SD) | 22.8 (4.4) | 22.1 (3.0) | 23.7 (3.9) | 25.5 (7.2) | 22.2 (3.5) | 0.030 |
Female, n (%) | 176 (46) | 19 (54) | 7 (35) | 22 (39) | 128 (48) | 0.153 |
Born at term: ≥37 weeks, n (%) | 347 (91) | 33 (94) | 16 (80) | 45 (79) | 253 (94) | 0.002 ** |
Birth weight: >2500 g, n (%) | 354 (93) | 33 (94) | 17 (85) | 51 (89) | 253 (94) | 0.128 |
Question | Response 4–5 a N (%) | Median (Min–Max) | p-Value (Compared to Controls) d | |
---|---|---|---|---|
Sufficient knowledge prior to the heel prick (1 = certainly not, 5 = certainly) b | TP | 20 (57) | 4 (1–5) | 0.025 |
FP | 13 (65) | 4 (1–5) | 0.038 | |
IC | 42 (74) | 4 (1–5) | 0.004 ** | |
Controls | 210 (78) | 4 (1–5) | ||
(Positive) Attitude towards the heel prick (1 = bad, 5 = good) | TP | 34 (97) | 5 (3–5) | 0.724 |
FP | 18 (90) | 5 (1–5) | 0.754 | |
IC | 56 (98) | 5 (3–5) | 0.702 | |
Controls | 263 (98) | 5 (3–5) | ||
(High) Perceived reliability of the heel prick (1 = not reliable, 5 = reliable) | TP | 35 (100) | 5 (4–5) | 0.003 ** |
FP | 12 (60) | 5 (1–5) | 0.003 ** | |
IC | 48 (84) | 5 (2–5) | 0.275 | |
Controls | 249 (93) | 5 (2–5) | ||
Regret about the heel prick (1 = no regret, 5 = a lot of regret) c | TP | 0 (0) | 1 (1–3) | 0.663 |
FP | 1 (5) | 1 (1–5) | <0.001 *** | |
IC | 1 (2) | 1 (1–4) | 0.036 | |
Controls | 0 (0) | 1 (1–2) | ||
Intention (not) to participate in the heel prick again (1 = certainly, 5 = certainly not) c | TP | 0 (0) | 1 (1–1) | 0.410 |
FP | 0 (0) | 1 (1–3) | 0.060 | |
IC | 0 (0) | 1 (1–3) | 0.293 | |
Controls | 0 (0) | 1 (1–2) |
Statements | T1 | T2 | |||||
---|---|---|---|---|---|---|---|
Response 3–4 a N (%) | Median (Min–Max) | p-Value b (Compared to Controls) | Response 3–4 a N (%) | Median (Min–Max) | p-Value b (Compared to Controls) | ||
I enjoy parenting | TP | 34 (97) | 4 (2–4) | 0.448 | 19 (100) | 4 (3–4) | 0.341 |
FP | 20 (100) | 4 (3–4) | 0.497 | 13 (100) | 4 (3–4) | 0.715 | |
IC | 55 (98) | 4 (1–4) | 0.531 | 27 (100) | 4 (3–4) | 0.333 | |
Controls | 266 (99) | 4 (2–4) | 114 (98) | 4 (2–4) | |||
I feel confident in being a parent | TP | 32 (91) | 3 (2–4) | 0.115 | 18 (95) | 3 (2–4) | 0.338 |
FP | 19 (95) | 3 (2–4) | 0.790 | 13 (100) | 3 (3–4) | 0.694 | |
IC | 54 (96) | 3 (2–4) | 0.527 | 26 (96) | 3 (1–4) | 0.776 | |
Controls | 251 (94) | 3 (1–4) | 111 (96) | 3 (2–4) | |||
I feel supported in parenting by my partner | TP | 35 (100) | 4 (3–4) | 0.505 | 19 (100) | 4 (3–4) | 0.139 |
FP | 20 (100) | 4 (3–4) | 0.182 | 13 (100) | 4 (3–4) | 0.894 | |
IC | 56 (100) | 4 (3–4) | 0.322 | 27 (100) | 4 (3–4) | 0.250 | |
Controls | 262 (98) | 4 (1–4) | 112 (97) | 4 (1–4) |
Health Care Provider | T1 Only Children Born at Term ≥37 Weeks | T2 All Children | |||||
---|---|---|---|---|---|---|---|
≥1 Visit a N (%) | Median (Min–Max) | p-Value b | ≥1 Visit a N (%) | Median (Min–Max) | p-Value b | ||
General practitioner | TP | 21 (64) | 1 (0–12) | 0.088 | 13 (72) | 2 (0–50) | 0.192 |
FP | 8 (50) | 0 (0–6) | 0.447 | 9 (69) | 2 (0–15) | 0.128 | |
IC | 19 (42) | 0 (0–20) | 0.903 | 18 (67) | 1 (0–15) | 0.523 | |
Controls | 121 (48) | 0 (0–6) | 71 (61) | 1 (0–10) | |||
Child health clinic | TP | 32 (97) | 2 (0–5) | 0.218 | 17 (94) | 3 (0–7) | 0.164 |
FP | 15 (94) | 2 (0–3) | 0.972 | 12 (92) | 5 (0–6) | 0.197 | |
IC | 42 (93) | 2 (0–5) | 0.885 | 27 (100) | 4 (1–6) | 0.050 | |
Controls | 249 (98) | 2 (0–6) | 116 (100) | 3 (2–8) | |||
Pediatrician | TP | 23 (70) | 2 (0–19) | <0.001 *** | 14 (74) | 4 (0–19) | <0.001 *** |
FP | 10 (63) | 1 (0–8) | 0.007 ** | 9 (69) | 2 (0–9) | <0.001 *** | |
IC | 21 (47) | 0 (0–20) | 0.087 | 14 (52) | 1 (0–24) | 0.111 | |
Controls | 85 (34) | 0 (0–4) | 43 (37) | 0 (0–10) | |||
Day treatment hospital | TP | 16 (49) | 0 (0–6) | <0.001 *** | 9 (50) | 0 (0–10) | <0.001 *** |
FP | 7 (44) | 0 (0–4) | 0.003 ** | 6 (46) | 0 (0–7) | 0.050 | |
IC | 14 (31) | 0 (0–20) | 0.022 | 4 (15) | 0 (0–7) | 0.989 | |
Controls | 32 (13) | 0 (0–6) | 18 (16) | 0 (0–6) | |||
Hospital admission | TP | 10 (30) | 0 (0–3) | 0.092 | 10 (53) | 0 (0–7) | 0.002 ** |
FP | 7 (44) | 0 (0–8) | 0.005 ** | 5 (39) | 0 (0–1) | 0.168 | |
IC | 16 (36) | 0 (0–8) | 0.127 | 8 (30) | 0 (0–3) | 0.163 | |
Controls | 42 (17) | 0 (0–2) | 22 (19) | 0 (0–7) | |||
Emergency department | TP | 10 (31) | 0 (0–1) | <0.001 *** | 7 (37) | 0 (0–2) | 0.032 |
FP | 4 (25) | 0 (0–2) | 0.016 | 3 (23) | 0 (0–1) | 0.545 | |
IC | 10 (22) | 0 (0–2) | 0.006 ** | 6 (22) | 0 (0–3) | 0.322 | |
Controls | 15 (6) | 0 (0–2) | 17 (15) | 0 (0–3) |
Disclaimer/Publisher’s Note: The statements, opinions and data contained in all publications are solely those of the individual author(s) and contributor(s) and not of MDPI and/or the editor(s). MDPI and/or the editor(s) disclaim responsibility for any injury to people or property resulting from any ideas, methods, instructions or products referred to in the content. |
© 2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
Share and Cite
van den Heuvel, L.M.; van der Pal, S.M.; Verschoof-Puite, R.K.; Klapwijk, J.E.; Elsinghorst, E.; Dekkers, E.; van der Ploeg, C.P.B.; Henneman, L. Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents. Int. J. Neonatal Screen. 2024, 10, 18. https://doi.org/10.3390/ijns10010018
van den Heuvel LM, van der Pal SM, Verschoof-Puite RK, Klapwijk JE, Elsinghorst E, Dekkers E, van der Ploeg CPB, Henneman L. Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents. International Journal of Neonatal Screening. 2024; 10(1):18. https://doi.org/10.3390/ijns10010018
Chicago/Turabian Stylevan den Heuvel, Lieke M., Sylvia M. van der Pal, Rendelien K. Verschoof-Puite, Jasmijn E. Klapwijk, Ellen Elsinghorst, Eugènie Dekkers, Catharina P. B. van der Ploeg, and Lidewij Henneman. 2024. "Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents" International Journal of Neonatal Screening 10, no. 1: 18. https://doi.org/10.3390/ijns10010018