Objectives: To determine whether early identification of babies with cystic fibrosis (CF) improves outcome in the current environment of new improved treatments, considering the criticism that there may be only margin...Objectives: To determine whether early identification of babies with cystic fibrosis (CF) improves outcome in the current environment of new improved treatments, considering the criticism that there may be only marginal benefit gained by CF newborn screening (NBS). Study design: We tested whether CF NBS in the setting of modern CF center care still afforded benefit using the UK CF Database (UKCFD; www.cystic-fi-brosis.org.uk) to compare clinical outcomes in infants who underwent NBS and control subjects who were clinically diagnosed (CD). With Mann-Whitney rank tests, 184 patients who underwent NBS aged 1 to 9 years in 2002 (excluding meconium ileus) were compared with matched patients who were CD in 3-year age groups (950 control subjects). Results: Patients as old as 6 years who underwent NBS had significantly greater median height z-scores, less severe Northern chest radiography scores, better Shwachman-Kulczycki scores, and lower rates of chronic Pseudomonas aeruginosa infection. No difference was found for weight z-score or % predicted forced expiratory value in 1 second or forced volume capacity. Nutritional benefit was demonstrated in patients who underwent NBS and were homozygous for the Δ F508 mutation. Conclusions: NBS segregates with better outcomes in patients as old as 6 years compared with age and gene-matched control subjects who are CD. This cross-sec-tional study shows that infants who undergo screening derive nutritional benefit in improved median height and reduced morbidity.展开更多
Objectives: To determine whether the improved clinical status after newborn screening (NBS) for cystic fibrosis (CF) segregates with increased therapeutic intervention compared with presentation by clinical diagnosis ...Objectives: To determine whether the improved clinical status after newborn screening (NBS) for cystic fibrosis (CF) segregates with increased therapeutic intervention compared with presentation by clinical diagnosis (CD). Study design: In 2002, two populations (1 to 9 years of age) who presented (excluding meconium ileus) by NBS ≤ 3 months of age or by CD were compared in an observational, cross-sectional design. NBS and CD populations (184 and 950 patients, respectively) were divided into 3-year age groups (1 to 3, 4 to 6, and 7 to 9 years)-. Therapies of duration >3 months were compared together with Pseudomonas aeruginosa infection status. Results: NBS patients≤ 6 years of age received significantly fewer and less demanding therapies not explained by age, genotype, geography, or social deprivation. In 7-to 9-year-olds, significantly fewer NBS patients received intravenous antibiotics. NBS patients without P aeruginosa infection received significantly fewer therapies, but no differences were found between intermittently or chronically infected NBS and CD populations. Comparable results were found in Δ F508/Δ F508 subpopulations. Conclusions: CF populations diagnosed by NBS are associated with reduced treatment compared with age and genotype-matched CD control subjects.展开更多
文摘Objectives: To determine whether early identification of babies with cystic fibrosis (CF) improves outcome in the current environment of new improved treatments, considering the criticism that there may be only marginal benefit gained by CF newborn screening (NBS). Study design: We tested whether CF NBS in the setting of modern CF center care still afforded benefit using the UK CF Database (UKCFD; www.cystic-fi-brosis.org.uk) to compare clinical outcomes in infants who underwent NBS and control subjects who were clinically diagnosed (CD). With Mann-Whitney rank tests, 184 patients who underwent NBS aged 1 to 9 years in 2002 (excluding meconium ileus) were compared with matched patients who were CD in 3-year age groups (950 control subjects). Results: Patients as old as 6 years who underwent NBS had significantly greater median height z-scores, less severe Northern chest radiography scores, better Shwachman-Kulczycki scores, and lower rates of chronic Pseudomonas aeruginosa infection. No difference was found for weight z-score or % predicted forced expiratory value in 1 second or forced volume capacity. Nutritional benefit was demonstrated in patients who underwent NBS and were homozygous for the Δ F508 mutation. Conclusions: NBS segregates with better outcomes in patients as old as 6 years compared with age and gene-matched control subjects who are CD. This cross-sec-tional study shows that infants who undergo screening derive nutritional benefit in improved median height and reduced morbidity.
文摘Objectives: To determine whether the improved clinical status after newborn screening (NBS) for cystic fibrosis (CF) segregates with increased therapeutic intervention compared with presentation by clinical diagnosis (CD). Study design: In 2002, two populations (1 to 9 years of age) who presented (excluding meconium ileus) by NBS ≤ 3 months of age or by CD were compared in an observational, cross-sectional design. NBS and CD populations (184 and 950 patients, respectively) were divided into 3-year age groups (1 to 3, 4 to 6, and 7 to 9 years)-. Therapies of duration >3 months were compared together with Pseudomonas aeruginosa infection status. Results: NBS patients≤ 6 years of age received significantly fewer and less demanding therapies not explained by age, genotype, geography, or social deprivation. In 7-to 9-year-olds, significantly fewer NBS patients received intravenous antibiotics. NBS patients without P aeruginosa infection received significantly fewer therapies, but no differences were found between intermittently or chronically infected NBS and CD populations. Comparable results were found in Δ F508/Δ F508 subpopulations. Conclusions: CF populations diagnosed by NBS are associated with reduced treatment compared with age and genotype-matched CD control subjects.
