[Newborn screening for cystic fibrosis in France]

Area of Science:

• Medical Genetics
• Neonatal Care
• Public Health Screening

Background:

• Neonatal screening for cystic fibrosis (CF) significantly improves patient prognosis through early multidisciplinary care.
• Global expansion of CF screening programs over two decades highlights their increasing importance.
• Established in 2002, the French neonatal CF screening program's performance is evaluated against European guidelines.

Purpose of the Study:

• To assess the performance and effectiveness of the French neonatal cystic fibrosis screening program.
• To ensure the program meets established European guideline standards.
• To emphasize the importance of maintaining effectiveness and advancing knowledge through data collection.

Main Methods:

• Evaluation of key performance indicators including positive predictive value and sensitivity.
• Analysis of the percentage of sweat tests performed and mutations identified.
• Assessment of the ratio of confirmed CF cases to inconclusive diagnoses and false negative detection strategies.

Main Results:

• The French program achieved a positive predictive value of 0.31 (minimum 0.30) and sensitivity of 0.95 (minimum 0.95).
• High rates were observed for sweat tests (95.5%) and mutation identification (96.6%).
• An effective strategy yielded a 9:1 ratio of CF cases to inconclusive diagnoses and successfully detected false negatives.

Conclusions:

• The French neonatal CF screening program aligns with European standards, demonstrating high effectiveness.
• A new organizational structure is in place to maintain screening effectiveness from birth to diagnosis.
• Ongoing, exhaustive data collection and validation are vital for sustained program success and future research.