The impact of newborn screening on cystic fibrosis testing in Victoria, Australia.

Balnaves, M. E.; Bonacquisto, L; Francis, Ivan; Glazner, Judith; Forrest, Susan M.

doi:10.1136/jmg.32.7.537

Cited by 30 publications

(21 citation statements)

References 18 publications

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“…The reported incidence from screening programs in Italy is 1 in 2730 (95% CI, 1/1964-1/ 3787), 15 in Australia is 1 in 2964 (95% CI, 1/2392-1/3676), 16 and in Wisconsin is 1 in 3296 (95% CI, 1/2597-1/4184). 5 A statistical model using the CF Foundation Registry data estimates the incidence of CF in white individuals to be 1 in 3419 and in non-white individuals to be 1 in 12163.…”

Section: Discussionmentioning

confidence: 96%

“…1,2 Most CF screening programs use the IRT/DNA approach that combines IRT with genetic tests (CF mutation screening). [3][4][5][6] The screening program in Colorado uses the persistent elevation of IRT on 2 determinations, separated by approximately 2 weeks (IRT/IRT), in the newborn period, to identify children with CF. The first IRT test is obtained before the infant is discharged from the hospital at 2 to 3 days of age, and the second is obtained at the infant's well-baby check at 2 weeks of age.…”

mentioning

confidence: 99%

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Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes

Sontag

Hammond

Zielenski

et al. 2005

The Journal of Pediatrics

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Section: Discussionmentioning

confidence: 96%

mentioning

confidence: 99%

Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes

Sontag

Hammond

Zielenski

et al. 2005

The Journal of Pediatrics

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“…The State of Victoria, Australia (66,000 births per year) has a two-tiered newborn screening program for CF 9 based upon an estimation of the immunoreactive trypsin from a blood spot Guthrie card, followed by genetic analysis for the ⌬F508 deletion and three exon 11 mutations: G542X, G551D, and R553X. A sweat chloride concentration ജ60 mEq/L confirms the diagnosis for heterozygotes.…”

Section: Subjects and Controlsmentioning

confidence: 98%

Severe viral respiratory infections in infants with cystic fibrosis

et al. 1998

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“…The ethnicity of this sample was mainly European. DNA from the blood spots was extracted (Balnaves et al 1995) and screened for the 35delG mutation by using the aforementioned PCR test. All positive DNA samples for the 35delG mutation were confirmed by sequencing of the 5' region of the connexin 26 gene.…”

Section: Mutation Detectionmentioning

confidence: 99%

High frequency hearing loss correlated with mutations in the GJB2 gene

et al. 2000

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Genetic hearing impairment affects approximately 1/2000 live births. Mutations in one gene, GJB2, coding for connexin 26 cause 10%-20% of all genetic sensorineural hearing loss. Mutation analysis in the GJB2 gene and audiology were performed on 106 families presenting with at least one child with congenital hearing loss. The families were recruited from a hospital-based multidisciplinary clinic, which functions to investigate the aetiology of sensorineural hearing loss in children and which serves an ethnically diverse population. In 74 families (80 children), the aetiology was consistent with non-syndromic recessive hearing loss. Six different connexin 26 mutations, including one novel mutation, were identified. We show that GJB2 mutations cause a range of phenotypes from mild to profound hearing impairment and that loss of hearing in the high frequency range (4000-8000 Hz) is a characteristic feature in children with molecularly diagnosed connexin 26 hearing impairment. We also demonstrate that this type of audiology and high frequency hearing loss is found in a similar-sized group of deaf children in whom a mutation could only be found in one of the connexin 26 alleles, suggesting connexin 26 involvement in the aetiology of hearing loss in these cases. In our study of the M34T mutation, only compound heterozygotes exhibited hearing loss, suggesting autosomal recessive inheritance.

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The impact of newborn screening on cystic fibrosis testing in Victoria, Australia.

Cited by 30 publications

References 18 publications

Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes

Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes

Severe viral respiratory infections in infants with cystic fibrosis

High frequency hearing loss correlated with mutations in the GJB2 gene

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