Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses

Férec, Claude; Verlingue, C.; Parent, Philippe; Morin, J.F.; Codet, J. P.; Rault, G.; Dagorne, M.; Lemoigne, A.; Journel, Hubert; Roussey, M.; Marec, B. Le; Catheline, Michel; Audrézet, M.‐P.; Mercier, Bernard

doi:10.1007/bf00197409

Cited by 40 publications

(15 citation statements)

References 24 publications

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“…30 An additional advantage of such diagnostic procedure is its ability to discover new or ultra-rare CFTR alleles. Indeed, we discovered about 30 sequence variants unreported previously.…”

Section: Discussionmentioning

confidence: 99%

Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

Sobczyńska-Tomaszewska¹,

Ołtarzewski²,

Czerska³

et al. 2012

Eur J Hum Genet

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Newborn screening for cystic fibrosis (NBS CF) in Poland was started in September 2006. Summary from 4 years' experience is presented in this study. The immunoreactive trypsin/DNA sequencing strategy was implemented. The group of 1 212 487 newborns were screened for cystic fibrosis during the programme. We identified a total of 221 CF cases during this period, including, 4 CF cases were reported to be omitted by NBS CF. Disease incidence in Poland based on the programme results was estimated as 1/4394 and carrier frequency as 1/33. The frequency of the F508del was similar (62%) to population data previously reported. This strategy allowed us to identify 29 affected infants with rare genotypes. The frequency of some mutations (eg, 2184insA, K710X) was assessed in Poland for the first time. Thus, sequencing assay seems to be accurate method for screening programme using blood spots in the Polish population.

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“…30 An additional advantage of such diagnostic procedure is its ability to discover new or ultra-rare CFTR alleles. Indeed, we discovered about 30 sequence variants unreported previously.…”

Section: Discussionmentioning

confidence: 99%

Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

Sobczyńska-Tomaszewska¹,

Ołtarzewski²,

Czerska³

et al. 2012

Eur J Hum Genet

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“…In Brittany, such a program was implemented in 1989 (Férec et al 1995;Scotet et al 2000). The test is performed on babies at 3 days of age, from a blood spot sample taken from the newborn's heel, and relies on an assay of immunoreactive trypsin (IRT), a pancreatic enzyme whose levels are significantly increased in CF newborns.…”

Section: Neonatal Screening For Cfmentioning

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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“…[1][2][3] Initial studies appear to confirm a positive impact on nutrition while long-term effects on lung disease are still unclear. 4 -6 From a genetic perspective, diagnosing CF (an autosomal recessive disease) in an infant means that the parents are also diagnosed as obligate carriers of a CF mutation.…”

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confidence: 99%

Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center

Wheeler¹,

Smith²,

Dorkin

et al. 2001

Genetics in Medicine

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Purpose: To study the follow-up of genetic counseling performed in families with a newborn detected with one cystic fibrosis (CF) mutation in a statewide newborn screening pilot program. Methods: Newborns in Massachusetts with an elevated trypsinogen level on newborn screen who are found to have one mutation for CF on a selected mutation assay undergo sweat testing for CF, and their families receive genetic counseling. The genetic counseling focuses on carrier risk for the parents of the newborn and offers carrier testing. We studied the yield of genetic counseling and the resulting genetic testing performed on the families of infants found to be CF carriers who underwent sweat testing in a single institution. Results: Of 102 newborns evaluated with a single CF mutation, 2 (twins) had sweat test results consistent with CF. A total of 101 families were counseled, and 95 were offered DNA-based CF carrier testing. Eighty-two percent of all parents chose to have CF carrier testing, and in five couples, both members were carriers. One of these couples (whose newborn was only a carrier) had an older child who was unexpectedly found to have CF. Conclusions: Sweat testing of newborns at increased risk for CF in conjunction with genetic counseling for their parents allows identification of infants with CF, finds couples at high risk for having a child with CF, identifies previously undiagnosed siblings with CF, and allows for potential identification of CF carriers in the extended family. Genet Med 2001:3(6):411-415.

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Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses

Cited by 40 publications

References 24 publications

Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

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

Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center

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