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J Pediatr. 2006 Sep;149(3):362-6.

Potential impact of newborn screening for cystic fibrosis on child survival: a systematic review and analysis.

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  • 1National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road NE, Atlanta, GA 30333, USA. sgrosse@cdc.gov

Abstract

OBJECTIVE:

To estimate the population impact of child mortality as a result of cystic fibrosis (CF) potentially preventable by newborn screening.

STUDY DESIGN:

A systematic literature review of mortality in children with classic CF without meconium ileus (MI) in screened and unscreened cohorts was extended by contacting investigators for unpublished data. In addition, survival in US states with and without newborn screening (NBS) programs for CF was compared using data from the Cystic Fibrosis Foundation Patient Registry (CFFPR).

RESULTS:

Among non-US studies, CF-related mortality risk to approximately 10 years of age was lower by 5 to 10 per 100 in screened cohorts. Unpublished US data from a trial of NBS for CF indicate no CF-related deaths to 10 years of age in either cohort. CFFPR data suggest improved survival among children with CF born in US states with NBS, with a CF-related mortality difference to 10 years of age between the screened and unscreened groups between 1.5 and 2 per 100 children with CF without MI.

CONCLUSION:

In addition to improving nutritional outcomes, newborn screening for CF may result in improved child survival. The absolute differential in mortality risk, although modest in size, appears comparable to NBS for certain other genetic disorders.

[PubMed - indexed for MEDLINE]
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