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Puerto Rico

Disorders Screened in Puerto Rico

Puerto Rico requires screening for the following diseases:

  1. PKU
  2. Congenital Hypothyroidism
  3. Hemoglobinopathies
  4. Galactosemia
Residents should seek supplemental screening for the diseases not included in the newborn screening.

General Information

Congenital Adrenal Hyperplasia will be added in the near future.  

The Programa Enfermedades Hereditarias (Inherited Diseases Program), with offices at the Puerto Rico Pediatric Hospital at the General Hospital Center, is in charge of the newborn screening program.   For information please contact the director Pedro Santiago-Borrero at 787-777-3535 ext. 7013 or 7014, or 787-754-7410. 

The "Asociación de Niños y Adultos con Desordenes Genéticos y Metabólicos de Puerto Rico" (Puerto Rico Society of Children and Adults with Genetic and Metabolic Disorders) with the March of Dimes, PR Chapter, are working to add screening for additional diseases.

Newborn Screening Advisory Committee
  Unknown at this time

NBSAC Chairperson
    
Unknown at this time

NBSAC Meeting Dates
     Unknown at this time

Location of Meetings
     Unknown at this time

More Information and Support Resources

Thanks to Maria-Del-Carmen Gonzáles-Ríos, MD, Clinical Geneticist at UPR School of Medicine, Dept. of Pediatrics, Genetic Section, for her help in compiling this information.   Also, thanks to Eduardo Bravo, newborn screening advocate and resident of Puerto Rico. 

Please write to us if you have any updates, changes, or new information to be added to this page. 

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