Comparing the clinical evolution of cystic fibrosis screened neonatally to that of cystic fibrosis diagnosed from clinical symptoms: A 10‐year retrospective study in a French region (Brittany)

Abstract

Until the year 2000, systematic cystic fibrosis (CF) neonatal screening was only performed in a few regions of France. The Brittany region began in 1989, but not the neighboring region of Loire-Atlantique. The present study compares the clinical evolution of both affected populations 10 years after screening was started. Although the 77 screened and 36 nonscreened children were followed in different CF centers, they were included in similar care protocols. The clinical characteristics at diagnosis and their evolution over a 10-year period of all the children affected with CF and born between January 1, 1989 and December 31, 1998, excluding those with meconium ileus, were compared. There were no significant differences in sex ratio, gestational age, anthropometric data at birth, frequency of deltaF508 homozygotes, proportion of pancreatic-insufficient patients, and mean age between the two populations. Age at diagnosis was lower in the screened group (38 days vs. 472 days, P < 10(-7)), as was the delay in supplementation with pancreatic enzymes (1.7 months vs.15.9 months, P < 10(-7)). The proportion of children who were hospitalized at least once was higher among the nonscreened than the screened patients (86% vs. 49%, P < 10(-4)). Z-scores for weight and height were significantly better in the screened population, not only in the first years of life, but also at 5 years old for height and 8 years old for weight. The Shwachman and Brasfield scores were higher among the screened children during the whole period of follow-up. No significant differences in colonization by Pseudomonas aeruginosa nor in lung function were found. Given the homogeneity in the characteristics and the follow-up of both populations, the benefits in terms of nutrition and clinical well-being of neonatal screening appear to be clear, thus confirming the advantages of its general implementation.

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

“…Because early treatment improves outcome [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15] and the Centers for Disease Control and Prevention has stated that the addition of CF to state newborn screening (NBS) programs is justified, 16 there has been increased interest in adding CF to state NBS programs. Individuals who are diagnosed with CF through NBS have improved nutritional status, 17 better growth, 14 and fewer hospitalizations, [17][18][19] whereas a delayed diagnosis can result in significant cognitive dysfunction 20 and nutritional failure. 4 NBS has been shown to decrease the risk of life-threatening complications 21 or death 21,22 from CF in infancy or early childhood.…”

Newborn Screening for Cystic Fibrosis: Evaluation of Benefits and Risks and Recommendations for State Newborn Screening Programs—

“…Virtually no difference was observed in lung function between the screened group and those who received a diagnosis conventionally in the 6 years after the newborn screening pilot project ended (85). Similarly, in both the French study and the UKCFD analysis, no differences in lung function were identified between S and non-S cohorts (87,91). Analyses of CFNPR data likewise have found no clear evidence of a benefit of newborn screening or early asymptomatic detection in terms of lung function (26,93).…”

“…In France, children born in Brittany (where newborn screening has been in practice since the 1980s) had higher average height and weight Z-scores than those born in neighboring Loire-Atlantique (where screening was not in practice). Differences in height-for-age Z-scores, which were primarily 0.3-0.6 at each age, were statistically significant at ages 1, 3, and 5 years, and differences in weight-for-age were statistically significant at ages 1 and 8 years (p<0.05) (87).…”

“…The Australian study reported significantly better Shwachman chest radiograph scores at age 15 years among patients in the screened group (2.3; 95% CI = 0.3-4.2), although not at ages 5 or 10 years; the difference in Shwachman clinical scores was statistically significant at ages 5 (3.8; p<0.01), 10 (5.3; p<0.05), and 12 (7.0; p<0.05) years (81,82). In France, both Brasfield chest radiograph scores and Shwachman clinical scores were significantly better among screened children (p<0.05) at each age; Brasfield scores among screened children declined 8% as children aged 1-9 years, compared with a 20% decline among unscreened children (87). Lastly, an analysis of UKCFD data has reported significantly better Northern chest radiograph scores (1.0; 95% CI = 0.0-0.99) and Shwachman clinical scores (3.0, 95% CI = 1.0-4.0) in neonatally screened patients ages 1-9 years (p<0.05) (91).…”

“…However, among children aged >3 years, which would include children with milder CF diagnosed symptomatically at later ages, no difference in rates of positive cultures was observed (91). Studies from France and the United States have not reported lower rates of isolation of P. aeruginosa from respiratory cultures taken from screened children with CF, including the Wisconsin RCT (76,87). An analysis of CFNPR data reported that although children with early asymptomatic detection had a lower frequency of colonization with this pathogen overall, after state of birth and other variables were controlled for, these children did not have a lower risk (104).…”