Neonatal Screening: Two New Diseases Added
- Here's a breakdown of teh key information from the provided text:
- * Neonatal Screening Expansion: France currently screens newborns for 16 diseases (the "Guthrie test").
- The text focuses on the reasoning behind the HAS's recommendations for expanding the scope of neonatal screening in France.
Here’s a breakdown of teh key information from the provided text:
* Neonatal Screening Expansion: France currently screens newborns for 16 diseases (the “Guthrie test”).
* Proposed Additions: The High Authority for health (HAS) recommends adding two more metabolic diseases to the screening:
* Biotinidase Deficit: Meets all criteria for inclusion – it’s a serious, known disease with effective early treatment.
* Galactosemia: Doesn’t fully meet all criteria (symptoms can appear before test results, reliability needs advancement), but HAS believes the benefits of early treatment justify its inclusion.
* Guthrie Test Details: The test involves taking a few drops of blood from a newborn’s heel adn placing it on a blotter.
* HAS criteria: For a disease to be added to the screening, it must be:
* Known
* Serious
* Treatable
* Treatment effective when started early (before symptoms appear)
* Screening test reliable.
The text focuses on the reasoning behind the HAS’s recommendations for expanding the scope of neonatal screening in France.