Newborn Screening Showing Decreasing Incidence of Cystic Fibrosis

Abstract

correspondence n engl j med 358;9 www.nejm.org february 28, 2008 973 tween the annual increase in the rate of CT use and the annual decrease in the overall rate of false positive diagnosis of appendicitis among adults (P<0.001). The overall rate of pathologically proven appendiceal perforation decreased significantly, from 18% in 1996 to 5% in 2006 (P<0.001).Our data suggest that the increased use of highquality preoperative CT, with the results interpreted by experienced abdominal radiologists, has led to significantly improved clinical outcomes in adults, with a sustained decrease in rates of both false positive diagnosis of appendicitis and false positive diagnosis of appendiceal perforation.

Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research

“…In Australia, 67% of parents identified as carriers through NBS chose to use prenatal diagnosis when having more children. The implementation of carrier screening has been shown to be associated with a reduction in the incidence of CF, as judged by the number of infants with CF identified by NBS in both Massachusetts (United States) and northern Italy since 1999 and 1993, respectively 94,95 However, there has been no reduction in the incidence of CF in Colorado, where screening for CF began in 1982. 96 The dissemination of information by carriers to family members is important because they are at increased risk of being carriers of CF.…”

Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

“…Such tendencies have already been observed. 27,28 Beside analytical and statistical limitations, another possible reason is the under representation of children with MI. In our study, the newborns with MI only represent 9.3%, while the literature data shows about 10-20%.…”

Current Practice and Attitudes of Australian Obstetricians Toward Population-Based Carrier Screening for Inherited Conditions

“…Screening programs began formally in the 1970s with screening for Tay-Sachs disease carrier status in the Ashkenazi Jewish community (Kaback, 1997). Subsequent programs have targeted cystic fibrosis (CF) in the United States and parts of Italy (Castellani et al, 2009;Hale et al, 2008), thalassaemia in Mediterranean at-risk populations (Cao et al, 1984(Cao et al, , 1997Modell & Mouzouras, 1982), fragile X syndrome in Israel (Berkenstadt et al, 2007), and most recently, spinal muscular atrophy (SMA) in the United States and Taiwan (Su et al, 2011;Sugarman et al, 2012). Several of these programs have reported reductions in the incidence of affected infants born with the conditions tested.…”