Surveillance for birth defects and genetic diseases

Lorenzo D. Botto and Pierpaolo Mastroiacovo

in Genetics and Public Health in the 21st Century

Published in print September 2000 | ISBN: 9780195128307
Published online September 2009 | e-ISBN: 9780199864485 | DOI:

Series: Oxford Monographs on Medical Genetics

Surveillance for birth defects and genetic diseases

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This chapter describes some surveillance issues that will likely be increasingly relevant as birth-defects surveillance moves into the future, and that provide instructive similarities and contrast with the emerging field of genetic disease surveillance. In the discussion of genetic-disease surveillance, emphasis is placed on high-penetrance, single-gene conditions that usually manifest in the pediatric age group.

Keywords: public health surveillance; birth defects surveillance; genetics disease surveillance; public health genetic programs

Chapter.  7522 words. 

Subjects: Public Health and Epidemiology

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