Demographics of the UK cystic fibrosis population: implications for neonatal screening

McCormick, Jonathan; Green, Michael W.; Mehta, Gita; Culross, Frank; Mehta, Anil

doi:10.1038/sj.ejhg.5200850

Cited by 76 publications

(74 citation statements)

References 22 publications

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“…Only limited race-specific disorder profiles have been reported elsewhere. Previous research has examined the relationship between ethnicity and a single genetic disorder, including the prevalence of a mutation or disorder within a specific ethnic group, [4][5][6][7][8] within several ethnic groups in a region, [9][10][11][12][13][14][15][16][17] or by geographic region only. 18,19 No studies have published the disorder prevalence rates by specific racial/ethnicity groups in a large US population.…”

Section: Introductionmentioning

confidence: 99%

Birth prevalence of disorders detectable through newborn screening by race/ethnicity

Feuchtbaum

Carter

Dowray

et al. 2012

Genetics in Medicine

119

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ORIGINAL RESEARCH ARTICLEPurpose: The purpose of this study was to describe the birth prevalence of genetic disorders among different racial/ethnic groups through population-based newborn screening data. methods: Between 7 July 2005 and 6 July 2010 newborns in California were screened for selected metabolic, endocrine, hemoglobin, and cystic fibrosis disorders using a blood sample collected via heel stick. The race and ethnicity of each newborn was self-reported by the mother at the time of specimen collection.Results: Of 2,282,138 newborns screened, the overall disorder detection rate was 1 in 500 births. The disorder with the highest prevalence among all groups was primary congenital hypothyroidism (1 in 1,706 births). Birth prevalence for specific disorders varied widely among different racial/ethnic groups. conclusion:The California newborn screening data offer a unique opportunity to explore the birth prevalence of many genetic dis orders across a wide spectrum of racial/ethnicity classifications. The data demonstrate that racial/ethnic subgroups of the California newborn population have very different patterns of heritable disease expression. Determining the birth prevalence of these disorders in California is a first step to understanding the short-and long-term medical and treatment needs faced by affected communities, especially those groups that are impacted by more severe disorders. 2012:14(11):937-945 Genet Med

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Section: Introductionmentioning

confidence: 99%

Birth prevalence of disorders detectable through newborn screening by race/ethnicity

Feuchtbaum

Carter

Dowray

et al. 2012

Genetics in Medicine

119

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“…Patients were eligible for inclusion if, in addition to biographical data, annual clinical data were available in both 2001 and 2002. Full details of data validation have been described elsewhere (10,13). All procedures were compliant with multicenter research ethics protocols and U.K. legislation on patient confidentiality (13).…”

Section: Research Design Andmentioning

confidence: 99%

“…The excess female mortality produces a rising male-to-female ratio of 1.6:1 in patients aged Ͼ35 years in the U.K. (10). This prompted a study of CFRD to test the association between CFRD and cystic fibrosis morbidity in female subjects, using the validated measure of future mortality, forced expiratory volume in 1 s (FEV 1 ) (11).…”

mentioning

confidence: 99%

Decreased Lung Function in Female but not Male Subjects With Established Cystic Fibrosis–Related Diabetes

2005

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OBJECTIVE -Although cystic fibrosis-related diabetes (CFRD) is associated with decreased lung function, sex is not known to influence CFRD. However, compared with male subjects with cystic fibrosis, female subjects with cystic fibrosis have increased morbidity. This study examines the association between female subjects with CFRD and poor lung function relative to male subjects using the percent predicted forced expiratory volume in 1 s (FEV 1 ) as a surrogate measure of morbidity. RESEARCH DESIGN AND METHODS -We compared 323 patients with establishedCFRD with 489 cystic fibrosis control subjects with normal glucose tolerance (NGT) listed in the U.K. Cystic Fibrosis Database. Patients stratified by sex and chronic Pseudomonas aeruginosa infection were compared using binary logistic regression, and patients with new CFRD diagnoses were compared prospectively for the year 2002.RESULTS -CFRD in female subjects (but not male subjects) without chronic P. aeruginosa infection had a 20% lower percent predicted FEV 1 compared with control subjects with NGT (95% CI Ϫ11.7 to Ϫ27.7; P Ͻ 0.0001). Genotype, age, treatment center, age at diagnosis of cystic fibrosis, pregnancy, liver function, or dose of pancreatic enzyme replacement therapy did not confound this female disadvantage. Comparison of female subjects with newly diagnosed CFRD free of chronic P. aeruginosa infection with matched control subjects with NGT showed no FEV 1 disadvantage in the 1st year after CFRD diagnosis.CONCLUSIONS -Only female subjects with CFRD have significantly decreased lung function compared with sex-matched NGT control subjects. The absence of poor lung function in the first 12 months after diagnosis of diabetes suggests that an opportunity may exist to intervene and possibly prevent a decline in lung function, which can be as much as 20% in female subjects with CFRD.

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“…However, the main disadvantage of the IRT/DNA/IRT protocol is its complexity and the anxiety generated for families who have to wait for the result of a second IRT (McCormick et al, 2002). Both the IRT/DNA/IRT and IRT/DNA protocols involve DNA testing, and may fail to detect ethnic minorities with rare mutations.…”

Section: Irt/dna and Irt/dna/irt Protocols In Neonatal Screeningmentioning

confidence: 99%

“…A DNA panel comprising the most common 31 CF mutations will detect 97% of mutations in a Caucasian population, but only just over 65% of mutations in a non-Caucasian population. The gene frequency of ΔF508 in the UK Indian sub-continent CF population is less than half that in the UK Caucasian CF population (McCormick et al, 2002). A three stage IRT/DNA/IRT protocol is reported to likely increase the chances of detecting CF in nonCaucasian infants (McCormick et al, 2002).…”

Section: Irt/dna and Irt/dna/irt Protocols In Neonatal Screeningmentioning

confidence: 99%

Biochemical and Molecular Genetic Testing Used in the Diagnosis and Assessment of Cystic Fibrosis

McGrowder¹

2012

Cystic Fibrosis - Renewed Hopes Through Research

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Demographics of the UK cystic fibrosis population: implications for neonatal screening

Cited by 76 publications

References 22 publications

Birth prevalence of disorders detectable through newborn screening by race/ethnicity

Birth prevalence of disorders detectable through newborn screening by race/ethnicity

Decreased Lung Function in Female but not Male Subjects With Established Cystic Fibrosis–Related Diabetes

Biochemical and Molecular Genetic Testing Used in the Diagnosis and Assessment of Cystic Fibrosis

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