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Published on: April 11, 2018
[National neonatal screening program for cystic fibrosis: management and organization]
C Grosskopf1, J P Farriaux, M Vidailhet
1Association française pour le dépistage et la prévention des handicaps de l'enfant, 38, rue Cauchy, 75015 Paris, France. afdphe@afdphe.asso.fr
Insights
France is implementing nationwide cystic fibrosis (CF) newborn screening. This program uses immunoreactive trypsin (IRT) and CFTR gene analysis to detect CF early in infants, aiming for 98% detection before one month old.
Area of Science:
- Public Health
- Genetics
- Pediatrics
Context:
- France is expanding its national newborn screening program.
- Cystic Fibrosis (CF) screening will be integrated by end of 2002.
- The program covers approximately 800,000 newborns annually.
Purpose:
- To implement a reliable and feasible cystic fibrosis screening protocol for all newborns in France.
- To ensure early detection of CF, enabling timely intervention and improved patient outcomes.
- To establish a comprehensive care pathway for infants diagnosed with CF.
Summary:
- The new protocol involves immunoreactive trypsin (IRT) testing at day 3, followed by CFTR genotype analysis for elevated IRT levels (≥60 µg/L), screening for 29 mutations.
- A second IRT test at day 21 is planned for negative genotypes.
- Parental information and clinical consultations for results are mandatory, regardless of test outcomes.
Impact:
- Aims to screen 98% of cystic fibrosis patients before one month of age.
- Enhances early diagnosis and management of cystic fibrosis in newborns.
- The program will be continuously evaluated for efficacy and potential modifications.
Abstract:
France has decided to add to the national neonatal screening program (Phenylketonuria, Hypothyroidism, Congenital Adrenal Hyperplasia, Sickle cell disease) the screening of cystic fibrosis (CF). The screening of CF will be implemented in all regions of France by the end of 2002 and will cover all newborn (near 800,000/year). Based on the recommendation of the French Screening Foundation, the project has been approved by the Health Ministry and will be financed by the social security. CF neonatal screening is now technically feasible and reliable. The proposed methodology includes: immunoreactive trypsin (IRT) dosage on all newborns at day 3 (by radioimmunology "Cis Bio" or immunofluorescence "Delfia") followed by genotype CFTR analysis if IRT level is above 60 micrograms/L. Screening for 29 mutations is planned. If genotype is negative, control of IRT at day 21 will be obtained. Several requirements are included in the program: a protocol of care for the newly diagnosed CF in a specialised CF center; information to all parents of newborns; results of CFTR genotype has to be given during a clinical visit, even if negative. This screening program should allow to screen 98% of the cystic fibrosis patients before the age of 1 month. In order to ensure perfect efficacy, the CF screening program will be evaluated and modified if necessary.
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