Currently, a voluntary universal screening program for congenital diseases exists in the Valencian Community including 10 diseases:

  • Congenital hypothyroidism.
  • Cystic fibrosis.
  • Sickle cell anemia.
  • Phenylketonuria.
  • MCAD.
  • LCHADD.
  • Glutaric aciduria type I.
  • Biotinidase deficiency (since 2020).
  • Homocystinuria (since 2022).
  • Maple syrup urine disease (since 2022).
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Legislation on neonatal screening in the CV.

https://dogv.gva.es/es/eli/es-vc/d/2018/11/30/218/

Program evaluation report at the national level:

https://www.sanidad.gob.es/profesionales/saludPublica/prevPromocion/Cribado/docs/InformeDeEvaluacionSICN_2019.pdf

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