Parental Preferences for Expanded Newborn Screening: What Are the Limits?
Abstract
:1. Introduction
2. Materials and Methods
2.1. Design and Setting
2.2. Sample and Recruitment
2.2.1. Data Collection
2.2.2. Data Analysis
Disease Category | Representative Condition | Details about Representative Condition |
---|---|---|
(i) Childhood-onset conditions which have an effective treatment and align with current NBS criteria | Riboflavin transporter deficiency (RTD; OMIM 211500, 211530, 614707) |
|
(ii) Childhood-onset conditions which have no medication-related disease-modifying treatment but can benefit from behavioral interventions | Rett Syndrome (RETT; OMIM 312750) |
|
(iii) Childhood-onset conditions which have no approved disease-modifying medication but have ongoing clinical trials/emerging treatments | Duchenne Muscular Dystrophy (DMD; OMIM 310200) |
|
(iv) Adolescent–adult-onset conditions with no medication-related treatment, but can benefit from surveillance | Hypertrophic cardiomyopathy (HCM; OMIM 192600) |
|
3. Results
3.1. Awareness of NBS
3.2. Willingness to Participate in NBS for Conditions with No Disease-Modifying Treatment
3.3. Perceived Benefits and Risks toward NBS for Different Conditions
3.3.1. Perceived Benefit to the Child and Better Support for Families
3.3.2. Interference with Parent–Child Bonding, Parental Anxiety, and Stigma
3.3.3. Uncertain Results
3.4. Consent Preferences
3.5. Trust in the Healthcare System
4. Discussion
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Characteristic | Total Participants (n = 100) |
---|---|
Gender | n (%) |
Female | 98 (98%) |
Male | 2 (2%) |
Age | |
20–29 | 8 (8%) |
30–39 | 74 (74%) |
40–49 | 18 (18%) |
Marital status | |
Married or living common-law | 94 (94%) |
Other | 6 (6%) |
Highest level of education | |
High school or less | 4 (4%) |
College/Trade diploma | 20 (20%) |
University degree or higher | 76 (76%) |
Population of city or town | |
Rural area | 9 (9%) |
Small city/town (less than 100,000 people) | 12 (12%) |
Medium-sized city (100,000–499,999 people) | 12 (12%) |
Large city (500,000 or more people) | 66 (66%) |
Unknown | 1 (1%) |
Number of children | |
One | 40 (40%) |
Two | 39 (39%) |
Three or more | 21 (21%) |
Experience with positive NBS results | |
Yes | 2 (2%) |
No | 94 (94%) |
Do not recall | 4 (4%) |
Experience with genetic testing in a family member | |
Yes | 10 (10%) |
No | 86 (86%) |
I do not know | 4 (4%) |
Q: “For This Condition, Parents Should Be …” | RTD | RETT | DMD | HCM |
---|---|---|---|---|
… required to have their baby screened. | ||||
Yes | 29 (29%) | 22 (22%) | 23 (24%) | 21 (21%) |
No | 71 (71%) | 76 (78%) | 75 (76%) | 79 (79%) |
…strongly encouraged to have their baby screened, but parents can still decline. | ||||
Yes | 91 (91%) | 76 (76%) | 71 (72%) | 74 (74%) |
No | 9 (9%) | 24 (24%) | 28 (28%) | 26 (26%) |
…able to choose whether they want their baby screened. | ||||
Yes | 66 (66%) | 76 (76%) | 76 (77%) | 76 (76%) |
No | 34 (34%) | 24 (24%) | 23 (23%) | 24 (24%) |
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Share and Cite
Liang, N.S.Y.; Watts-Dickens, A.; Chitayat, D.; Babul-Hirji, R.; Chakraborty, P.; Hayeems, R.Z. Parental Preferences for Expanded Newborn Screening: What Are the Limits? Children 2023, 10, 1362. https://doi.org/10.3390/children10081362
Liang NSY, Watts-Dickens A, Chitayat D, Babul-Hirji R, Chakraborty P, Hayeems RZ. Parental Preferences for Expanded Newborn Screening: What Are the Limits? Children. 2023; 10(8):1362. https://doi.org/10.3390/children10081362
Chicago/Turabian StyleLiang, Nicole S. Y., Abby Watts-Dickens, David Chitayat, Riyana Babul-Hirji, Pranesh Chakraborty, and Robin Z. Hayeems. 2023. "Parental Preferences for Expanded Newborn Screening: What Are the Limits?" Children 10, no. 8: 1362. https://doi.org/10.3390/children10081362
APA StyleLiang, N. S. Y., Watts-Dickens, A., Chitayat, D., Babul-Hirji, R., Chakraborty, P., & Hayeems, R. Z. (2023). Parental Preferences for Expanded Newborn Screening: What Are the Limits? Children, 10(8), 1362. https://doi.org/10.3390/children10081362