Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

False-positive results in neonatal screening for cystic fibrosis based on a three-stage protocol (IRT/DNA/IRT): Should we adjust IRT cut-off to ethnic origin?

Journal of inherited metabolic disease - 1 Jan 2005

Cheillan D, Vercherat M, Chevalier-Porst F, Charcosset M, Rolland M O, Dorche C

Abstract excerpt

Since 1979, newborn screening for cystic fibrosis (CF) has been possible by measuring immunoreactive tryspinogen (IRT) in blood spots. In France, a programme based on a three-stage strategy (IRT/DNA/IRT) started in 2002. In the Rhône-Alpes area, the positive screening rate (i.e. the proportion of samples sent for genotyping) observed after the first IRT measurement was higher than the expected rate (0.65% versus...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Africa, Northern
Share to Cystic Fibrosis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to False Positive Reactions

Share to Genetic Carrier Screening

Share to Mass Screening

Share to Models, Statistical

Share to Neonatal Screening

Share to Trypsinogen

Source

Identifiers

PMID: 16435172
DOI: 10.1007/s10545-005-0067-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

False-positive results in neonatal screening for cystic fibrosis based on a three-stage protocol (IRT/DNA/IRT): Should we adjust IRT cut-off to ethnic origin?PMID 16435172Read ↗

Neonatal screening for cystic fibrosis: comparing the performances of IRT/DNA and IRT/PAP.Semantic proximity Read ↗

Screening for cystic fibrosis in newborn infants: results of a pilot programme based on a two tier protocol (IRT/DNA/IRT) in the Italian population.Semantic proximity Read ↗

Four-year evaluation of neonatal cystic fibrosis screening in Southern Belgium.Semantic proximity Read ↗

Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden.Semantic proximity Read ↗

Neonatal screening for cystic fibrosis: France rises to the challenge.Semantic proximity Read ↗

Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening.Semantic proximity Read ↗

Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up.Semantic proximity Read ↗

CFTR DeltaF508 mutation detection from dried blood samples in the first trimester of pregnancy: a possible routine prenatal screening strategy for cystic fibrosis?Semantic proximity Read ↗

A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: genotype-phenotype correlations, relevance for newborn screening and genetic testing.Semantic proximity Read ↗

Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis.Semantic proximity Read ↗

Cystic fibrosis screening in neonates--measurement of immunoreactive trypsin and direct genotype analysis for delta F508 mutation.Semantic proximity Read ↗

Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.