Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium
Abstract
:1. Introduction
2. Materials and Methods
2.1. Ethical Approval
2.2. Gene Selection
- Significant life-expectancy consequences or severe disability associated with untreated patients.
- Disease onset in childhood (i.e., before 5 years).
- Strong genotype–phenotype correlation.
- Existence of a disease-modifying treatment or access to a clinical trial for pre-symptomatic or early symptomatic stage.
- Significant benefit of early treatment.
- Endorsement by treating pediatricians from CHU of Liege.
2.3. Enrollment
2.4. Technical Aspects
2.5. Results Reporting
3. Results
4. Discussion
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
Abbreviations
DBS | Dried blood spot |
NBS | Newborn screening |
tNGS | targeted next-generation sequencing |
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Wording/Reasons for Refusal | Number of Refusals |
---|---|
No reason | 225 |
Family in good health/eldest child in good health/pregnancy test normal/child has been examined by pediatrician and is in good health: not necessary | 37 |
Only what is mandatory/no extras/20 illnesses = enough | 32 |
Father does not want | 19 |
Did not sign at maternity hospital (forgot) Oral agreement, but would not sign after phone call | 17 |
The fact that it is a study/experimental/that there is no hindsight/does not want her child to be a mouse in a laboratory/if consent required = risk | 16 |
Child too small, too many blood tests, painful | 11 |
Stress (delay/many illnesses) | 11 |
Fear | 10 |
Language | 10 |
Not conducted for older child | 8 |
Fatality/accepting one’s fate | 8 |
Fear of false positive | 3 |
Prefers to wait until baby is ill | 3 |
Anti-vaccine/Anti-COVID-19: conspiracy if illness not visible | 3 |
Illnesses already present in child or siblings | 2 |
Fear of data storage | 1 |
Fear of genetic testing | 1 |
Too depressed to risk receiving bad news | 1 |
Does not want to be categorized as ill | 1 |
The human body has to fight | 1 |
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© 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
Dangouloff, T.; Hovhannesyan, K.; Mashhadizadeh, D.; Minner, F.; Mni, M.; Helou, L.; Piazzon, F.; Palmeira, L.; Boemer, F.; Servais, L. Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium. Children 2024, 11, 926. https://doi.org/10.3390/children11080926
Dangouloff T, Hovhannesyan K, Mashhadizadeh D, Minner F, Mni M, Helou L, Piazzon F, Palmeira L, Boemer F, Servais L. Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium. Children. 2024; 11(8):926. https://doi.org/10.3390/children11080926
Chicago/Turabian StyleDangouloff, Tamara, Kristine Hovhannesyan, Davood Mashhadizadeh, Frederic Minner, Myriam Mni, Laura Helou, Flavia Piazzon, Leonor Palmeira, François Boemer, and Laurent Servais. 2024. "Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium" Children 11, no. 8: 926. https://doi.org/10.3390/children11080926