Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history.

Green, M R; Weaver, Lawrence T.; Heeley, A F; Nicholson, K; Kuzemko, J A; Barton, D. E.; McMahon, R.; Payne, S.; Austin, Steven; Yates, John R.

doi:10.1136/adc.68.4.464

Cited by 38 publications

(14 citation statements)

References 21 publications

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“…Pulmonary function has been shown to be significantly worse in CF children presenting with MI as measured by spirometry and chest radiography compared to non-MI cystic controls [8]. Several studies have looked to explain differences in the most common CF genotypes and subsequent clinical course, including MI, but have failed to identify any consistent trends [9,10].…”

Section: Discussionmentioning

confidence: 97%

Immunoreactive trypsin levels in neonates with meconium ileus

et al. 2006

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Serum immunoreactive trypsin (IRT) is used as a screening test for cystic fibrosis (CF) in neonates in many countries. Variations in IRT levels are observed in healthy and cystic neonates within the first few weeks of life. Fifteen percentage of CF neonates present with meconium ileus (MI). We hypothesised that there may be differences in serum IRT levels in cystic babies with simple and complicated MI. The aim of this study was to investigate the serum levels of IRT in neonates with CF presenting with MI. IRT levels were sequentially measured in neonates (n = 29) with CF with intestinal obstruction due to simple or complicated MI. These were compared to levels obtained from non-cystic neonates/controls admitted with a variety of other intra-abdominal pathologies (n = 49) IRT levels were significantly higher in the CF-MI group than the non-cystic controls (P < 0.001). There was no statistical difference in IRT levels between the simple or complicated MI groups. In the MI group there was no statistical difference between those who required operation, no difference between the pre- and post-operative IRT levels and no significant relationship between IRT levels and birth weight or gestation. Serum IRT levels are significantly elevated in neonates with CF and MI compared with non-cystic, non-MI neonates. The results of this observational study highlight that a single raised level of IRT in a neonate should prompt the analysis for CF regardless of any underlying surgical pathology.

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Section: Discussionmentioning

confidence: 97%

Immunoreactive trypsin levels in neonates with meconium ileus

et al. 2006

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“…Nevertheless, despite the progress accomplished over recent decades in the field of CF research, the majority of at-risk couples choose to undergo prenatal diagnosis in France. The current proportion of abortions following a positive diagnosis is high, varying from 64% to 100% (Boué et al 1986;Green et al 1993). In our study, this rate was measured at 88.5%.…”

Section: Discussionmentioning

confidence: 97%

“…However, it is not certain that these actions only are responsible for the decline in observed birth prevalence. The effect could also be the result of two other phenomena: (1) heightened population movements at this time, causing a decrease in consanguinity rate and gene frequency (Green et al 1993) and (2) a decrease of sibling numbers, such that a lower proportion of at-risk couples are giving birth to an affected child.…”

Section: Discussionmentioning

confidence: 99%

Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France

et al. 2003

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Taking into account the situation of Brittany, a region of western France where cystic fibrosis (CF) is common and where a neonatal screening program was set up 14 years ago, the aim of this study was to determine the way in which the birth prevalence of CF has been influenced by the various public health strategies implemented in the region (neonatal screening, prenatal diagnosis, ultrasound examination and family testing). This study used the results of the neonatal screening program, which enabled a precise measure of the prevalence of CF at birth to be obtained. Over the same period, we collected data from prenatal diagnoses carried out in the region, first in families related to a CF child and also those made following the detection of an echogenic bowel upon routine ultrasound examination performed during pregnancy. The prevalence of CF at birth was estimated to be 1/2838 in the region over a 10-year period (1992-2001). By including the 54 CF-affected pregnancies that were terminated during these 10 years, the corrected birth prevalence of CF was 1/1972. Prenatal diagnosis was therefore responsible for a global decrease in CF prevalence at birth of 30.5%. This work constitutes the first study able to provide a precise measure of CF birth prevalence and of its evolution through the combined effects of neonatal screening, prenatal diagnosis, ultrasound examination and family testing.

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“…8 Genotype frequencies in CF have previously been shown to fit a Hardy -Weinberg model in a smaller regional UK study. 9 In the current study, we find that the genotype frequencies only satisfy the Hardy-Weinberg equilibrium provided we exclude those without an identified CFTR mutation in the Other/Other category. This suggests that defects in non-CFTR genes may contribute to the CF phenotype.…”

Section: Cftr Mutations In Caucasiansmentioning

confidence: 96%