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J Pediatr. 2005 Sep;147(3):312-5.

Cystic fibrosis birth rates in Canada: a decreasing trend since the onset of genetic testing.

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1
The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

Abstract

OBJECTIVE:

To estimate cystic fibrosis (CF) birth rates in Canada from 1971 to 2000 and to assess the population impact of genetic testing in families with a history of CF, after identification of the CF transmembrane conductance regulator gene in 1989.

STUDY DESIGN:

Age-at-diagnosis data were obtained from the Canadian Cystic Fibrosis Foundation Patient Data Registry and Canadian births for the corresponding years from Canadian Vital Statistics. Estimates of the CF birth rate in each year were based on a nonparametric model that allows the birth rate to vary across the years and adjusts for censoring of currently undiagnosed patients.

RESULTS:

The overall CF birth rate from 1971-1987 was 1/2714 with no increasing or decreasing trend. Beginning in 1988, 1 year before identification of the CF transmembrane conductance regulator gene, estimated CF birth rates followed a linear decline to an estimated rate of 1/3608 in 2000. CF birth rates may have stabilized in the last few years, but further decline may occur with implementation of carrier screening in the general population.

CONCLUSIONS:

These results demonstrate the temporal association of genetic testing and declining CF birth rates in Canada. They may assist in decisions relating to the allocation of resources for prenatal and neonatal CF screening programs.

PMID:
16182667
DOI:
10.1016/j.jpeds.2005.06.043
[Indexed for MEDLINE]
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