Aim of the study was to evaluate if extensive CF carrier testing may be connected with the progressive decrease of CF birth incidence recorded in North Eastern Italy. From 1993 to 2007 an average 52,000 newborns per year underwent Neonatal Screening (NS), and 198 newborns with CF were detected (1/3937). A time related contraction in birth prevalence was confirmed, with an average annual percent decrease of 0.15 per 10,000 neonates (Poisson regression analysis p 0.003). In the NS area two sections were identified: the Western Region (WR), where CF carrier testing is not offered to couples from the general population, and the Eastern Region (ER), where CF carrier testing is widely offered to couples from the general population. In ER from 1995 to 2007 such testing practice has been steadily expanding, with a total of 87,721 CF carrier tests performed, 3460 carriers identified, and 238 carrier couples detected (data collection in progress). The prevalence of CF decreased by time (p<0.001) but the rate of decrease was more enhanced in ER as suggested by the existence of a statistically significant (p = 0.014) interaction term between time and region in the Poisson regression model. The overall negative trend in North Eastern Italy is due to a contraction of CF births in its Eastern part. In ER a negative correlation was found between CF incidence and the number of carrier tests (p 0.012). Prenatal diagnosis data collection is in progress. These data support the hypothesis that carrier screening may modify the incidence of CF.

Extensive carrier testing and CF birth prevalence: evidence for a negative correlation

Girardi P;
2009

Abstract

Aim of the study was to evaluate if extensive CF carrier testing may be connected with the progressive decrease of CF birth incidence recorded in North Eastern Italy. From 1993 to 2007 an average 52,000 newborns per year underwent Neonatal Screening (NS), and 198 newborns with CF were detected (1/3937). A time related contraction in birth prevalence was confirmed, with an average annual percent decrease of 0.15 per 10,000 neonates (Poisson regression analysis p 0.003). In the NS area two sections were identified: the Western Region (WR), where CF carrier testing is not offered to couples from the general population, and the Eastern Region (ER), where CF carrier testing is widely offered to couples from the general population. In ER from 1995 to 2007 such testing practice has been steadily expanding, with a total of 87,721 CF carrier tests performed, 3460 carriers identified, and 238 carrier couples detected (data collection in progress). The prevalence of CF decreased by time (p<0.001) but the rate of decrease was more enhanced in ER as suggested by the existence of a statistically significant (p = 0.014) interaction term between time and region in the Poisson regression model. The overall negative trend in North Eastern Italy is due to a contraction of CF births in its Eastern part. In ER a negative correlation was found between CF incidence and the number of carrier tests (p 0.012). Prenatal diagnosis data collection is in progress. These data support the hypothesis that carrier screening may modify the incidence of CF.
European Cystic Fibrosis Society
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10278/3757468
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