Related Experiment Video
Updated: Feb 26, 2026
An Ex vivo Culture System to Study Thyroid Development
Published on: June 6, 2014
Newborn screening for congenital hypothyroidism in France: a study of current professional practices
Maelle Quenet1, Stéphanie Leroux2, Claude Bendavid3
1Service de Néonatalogie, Hôpital Sud CHU Rennes-France, Rennes, France.
Insights
French neonatal screening centers show significant variations in congenital hypothyroidism protocols, impacting diagnostic consistency. Harmonizing practices is crucial for equitable and effective early detection of this intellectual disability cause.
Area of Science:
- Endocrinology
- Public Health
- Neonatal Medicine
Background:
- Congenital hypothyroidism (CH) is a primary cause of preventable intellectual disability.
- Neonatal screening is vital for early CH detection and treatment, preventing developmental issues.
- France has national CH screening protocols since 1978 to ensure equitable care.
Purpose of the Study:
- To evaluate adherence to national CH screening guidelines by French Regional Neonatal Screening Centers.
- To identify and document local adaptations and deviations from standardized CH screening protocols.
- To assess the potential impact of practice variations on diagnostic consistency and equity.
Main Methods:
- A 2024 cross-sectional descriptive survey was conducted using an online questionnaire.
- All 16 French Regional Neonatal Screening Centers participated (100% response rate).
- The survey assessed practices regarding TSH retesting, referral thresholds, thyroxine assays, second-tier testing, resampling, and preterm infant management.
Main Results:
- 56% of centers (9/16) reported deviations from national CH screening recommendations.
- Variations observed in TSH thresholds, thyroxine measurement on initial DBS, and preterm infant management protocols.
- No centers utilized gestational age-adjusted TSH thresholds for preterm infants.
Conclusions:
- Significant heterogeneity exists in CH screening practices across French neonatal centers.
- Discrepancies in screening protocols may compromise diagnostic consistency and equitable care.
- Evidence-based harmonization of CH screening practices is necessary to optimize national performance.
Objective:
Congenital hypothyroidism is a leading cause of preventable intellectual disability. Neonatal screening enables early detection and treatment, ideally before symptoms appear. In France, screening has been part of national public health policy since 1978, relying on standardized protocols to ensure equity of care. However, the actual adherence to these guidelines and potential local adaptations remain undocumented. This study aimed to describe current practices of French Regional Neonatal Screening Centers and assess their conformity with national recommendations.
Methods:
In 2024, a cross-sectional descriptive survey was conducted via a structured online questionnaire sent to all 16 French Regional Neonatal Screening Centers. The questionnaire addressed TSH retesting and referral thresholds, use of thyroxine assays, second-tier testing, resampling protocols, and management of preterm infants. Data were analyzed to identify deviations from guidelines and their potential implications.
Results:
All 16 centers responded (100% response rate). Nine (56%) reported deviations from national recommendations. Five centers applied alternative TSH retesting or referral thresholds. Four measured thyroxine on the first dried blood spot for intermediate TSH levels, with one retrospectively evaluating this approach. Three centers had specific resampling protocols for preterm infants, but none used gestational age-adjusted TSH thresholds. These adaptations aimed to reduce false positives and false negatives associated with the standard protocol.
Conclusion:
This nationwide survey highlights substantial heterogeneity in congenital hypothyroidism screening practices across France. Variations in TSH thresholds, thyroxine measurement, and preterm infant management may impact diagnostic consistency and equity. Harmonization efforts based on evidence are needed to optimize neonatal screening performance nationally.
