Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis

“…20 In many situations where prior probabilities are in clearly different ranges (for instance 1/25 of being a carrier and 24/25 of being non-carrier), risk calculations can be performed by using simplified formulae, 20 which consist in assimilating the overall probability of having a negative result (denominator of the above formula) to 1 (100%). The simplified formulae are easy to use and the error, compared with the mathematically more correct ones, is often very small.…”

Section: Pðcjno Mutþ¼mentioning

confidence: 99%

“…20 These recommendations have been widely implemented in the framework of national or regional networks of diagnostics laboratories. However, an update has become necessary since many more laboratories are now offering CFTR genetic testing; the number of and indications for referrals have increased, in particular in the area of male infertility; knowledge of CFTR molecular pathology has evolved; and laboratory practice has changed, notably in the methods used.…”

Section: Introductionmentioning

confidence: 99%

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Dequeker

Stuhrmann

Morris³

et al. 2008

Eur J Hum Genet

213

160

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The increasing number of laboratories offering molecular genetic analysis of the CFTR gene and the growing use of commercial kits strengthen the need for an update of previous best practice guidelines (published in 2000). The importance of organizing regional or national laboratory networks, to provide both primary and comprehensive CFTR mutation screening, is stressed. Current guidelines focus on strategies for dealing with increasingly complex situations of CFTR testing. Diagnostic flow charts now include testing in CFTR-related disorders and in fetal bowel anomalies. Emphasis is also placed on the need to consider ethnic or geographic origins of patients and individuals, on basic principles of risk calculation and on the importance of providing accurate laboratory reports. Finally, classification of CFTR mutations is reviewed, with regard to their relevance to pathogenicity and to genetic counselling.

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“…This possibility has suggested that all CBAVD individuals and their partners should undergo genetic testing of the most common CFTR mutations before ART. 16,17 However, the utility of screening the couples candidates for an ART procedure for problems not related to obstructive azoospermia in the male partner and without a family history of CF is still debated. 18 In this study we report the results of a multicentric molecular screening of the most common CFTR gene mutations in 1195 couples undergoing ART, due to different causes of infertility.…”

Section: Introductionmentioning

confidence: 99%

Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs

et al. 2005

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Genetic testing of the cystic fibrosis transmembrane conductance ( CFTR) gene is currently performed in couples undergoing assisted reproduction techniques ( ART), because of the high prevalence of healthy carriers in the population and the pathogenic relationship with congenital bilateral absence of vas deferens ( CBAVD). However, discordant data have been reported concerning the usefulness of this genetic test in couples with no family history of cystic fibrosis ( CF). In this study, we report the results of CFTR molecular screening in 1195 couples entering ART. Genetic testing was initially carried out in a single partner of each couple. CFTR mutations were detected in 55 subjects ( 4.6%), a percentage that overlaps with the one reported in the general population. However, significantly higher frequencies of were found in CBAVD individuals ( 37.5%) and in males with nonobstructive azoospermia ( 6.6%). The 5T allele was found in 78 patients ( 6.5%). This figure was again significantly different in males with nonobstructive-azoospermia ( 9.9%) and in those with CBAVD ( 100%). All together, 139 subjects ( 11.6%) had either a CFTR mutation or the 5T allele. Subsequent molecular analysis of their partners disclosed a CFTR mutation or 5T allele in nine cases ( 6.5%). However, none of these couples had CFTR alterations in both members, a CFTR mutation being invariably present in one partner and the 5T allele in the other. In order to improve genetic counselling of these couples, the TG-M470V-5T association was analyzed, and a statistically significant relationship between 12TG-V470 and CBAVD was detected

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Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis

Cited by 52 publications

References 6 publications

Analytic validity of cystic fibrosis testing: A preliminary estimate

Analytic validity of cystic fibrosis testing: A preliminary estimate

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs

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