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Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening-Towards a Consistent Definition and Data Acquisition
Anne Munck1, Kevin W Southern2, Jared Murphy2
1Hospital Necker Enfants-Malades, AP-HP, CF Centre, University Paris Descartes, 75015 Paris, France.
International Journal of Neonatal Screening
|December 22, 2023
Summary
European newborn bloodspot screening (NBS) programs struggle with inconsistent data collection for missed cases. A new questionnaire aims to standardize reporting and improve data comparison across regions.
Area of Science:
- Medical Genetics
- Public Health
- Clinical Diagnostics
Background:
- Newborn bloodspot screening (NBS) programs in Europe exhibit diverse strategies for identifying and reporting missed cases.
- Inconsistent data collection and varying definitions of missed cases hinder cross-regional comparisons and program evaluation.
- The European Commission (EC) Fluoride (F) Screening (ECFS) Neonatal Screening Working Group has established a framework for classifying missed cases.
Purpose of the Study:
- To assess the feasibility of collecting comprehensive data on missed cases within European NBS programs.
- To identify the specific stages within NBS programs where system failures occur, leading to missed cases.
- To gather individual patient data related to each missed case for detailed analysis.
Main Methods:
- A questionnaire was designed by the ECFS Neonatal Screening Working Group.
- The questionnaire was distributed to key personnel identified within each national/regional NBS program.
- Data collected focused on the feasibility of missed case ascertainment, failure points in the NBS process, and patient-specific information.
Main Results:
- Survey results indicate significant variability in current data collection practices for missed cases across European NBS programs.
- The questionnaire successfully gathered information on the stages of NBS failure (pre-analytical, analytical, post-analytical) and the nature of these failures.
- Preliminary data suggest challenges in obtaining complete and standardized individual patient data for all missed cases.
Conclusions:
- Standardized data collection protocols are crucial for improving the accuracy and comparability of missed case reporting in European NBS.
- Further refinement of data collection tools and processes is needed to overcome existing barriers and ensure comprehensive reporting.
- Implementing a unified approach to defining and collecting data on missed cases will enhance the overall effectiveness and quality of NBS programs.
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