Pediatric Newborn Screening

Objectives:

  • To learn about the fundamental principles of screening, and the diseases for which newborns in Ontario are screened.
  • To observe the testing process, the fundamental principles of the tests themselves, and basic concepts about the interpretation of screening test results.
  • To observe and learn about the referral process for screen positive infants, and the operational systems for ensuring appropriate screening, retrieval and follow-up of infants.
  • To observe the retrieval and diagnostic evaluation of screen positive infants, including the initial communication with parents, diagnostic approaches, triaging, and treatment decisions

Description:

CHEO hosts the provincial newborn screening program for Inherited Metabolic Diseases, Cystic Fibrosis, Sickle Cell Disease, Congenital Hypothyroidism, and Congenital Adrenal Hyperplasia.  A state of the art laboratory performs screening tests on babies born across the Province of Ontario (~150,000 per year), and a team of health care providers (physician, lab scientist, manager, nurse, genetic counselor) coordinate and quality assure the system, ensure that all babies with a screen positive result are evaluated and review the diagnostic assessments sent back from treatment centres.  The student will attend the screening laboratory and learn from the technologists performing the testing, as well as the scientific and medical staff reviewing and interpreting the results. They will spend time with the genetic counsellors to observe and learn about the referral process for screen positive infants and the operational systems for ensuring appropriate screening, retrieval and follow-up of infants.  The medical student will spend time with the medical staff to learn about fundamental principles of screening and their practical application.  Finally, the students will have an opportunity to attend the CHEO newborn screening retrieval centre to observe the retrieval and diagnostic evaluation of screen positive infants, including the initial communication with parents, diagnostic approaches, triaging, and treatment decisions.

Location: Childrens Hospital of Eastern Ontario

Duration: 2 - 4 weeks

No. of Students: 1

Available for: All medical students, priority given to clinical clerks

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