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Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis

Neonatal screening for cystic fibrosis has been a subject of debate over the past few years. This study assesses 10 years of neonatal screening in Brittany, France, and examines its impact on prenatal screening of subsequent pregnancies in couples with an affected child. The study included all the n...

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Published in:The Lancet (British edition) 2000-09, Vol.356 (9232), p.789-794
Main Authors: Scotet, Virginie, de Braekeleer, Marc, Roussey, Michel, Rault, Gilles, Parent, Philippe, Dagorne, Michel, Journel, Hubert, Lemoigne, Auguste, Codet, Jean-Pierre, Catheline, Michel, David, Véronique, Chaventré, André, Duguépéroux, Ingrid, Verlingue, Claudine, Quéré, Isabelle, Mercier, Bernard, Audrézet, Marie-Pierre, Férec, Claude
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container_issue 9232
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container_title The Lancet (British edition)
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creator Scotet, Virginie
de Braekeleer, Marc
Roussey, Michel
Rault, Gilles
Parent, Philippe
Dagorne, Michel
Journel, Hubert
Lemoigne, Auguste
Codet, Jean-Pierre
Catheline, Michel
David, Véronique
Chaventré, André
Duguépéroux, Ingrid
Verlingue, Claudine
Quéré, Isabelle
Mercier, Bernard
Audrézet, Marie-Pierre
Férec, Claude
description Neonatal screening for cystic fibrosis has been a subject of debate over the past few years. This study assesses 10 years of neonatal screening in Brittany, France, and examines its impact on prenatal screening of subsequent pregnancies in couples with an affected child. The study included all the neonates screened for cystic fibrosis in Brittany from Jan 1, 1989, to Dec 31, 1998. The screening consisted of an immunoreactive trypsinogen assay from dried blood spots, plus, from 1993, mutation analysis. Data were collected on incidence of cystic fibrosis, and genotypic and biochemical characteristics. The use of prenatal screening of subsequent pregnancies in affected families was also investigated. Of the 343 756 neonates screened, 118 children with cystic fibrosis were identified, giving an incidence of one in 2913. All mutated alleles were characterised: 34 different mutations resulting in 36 genotypes were detected. The introduction of DNA analysis into the protocol greatly reduced the recall rate and increased the sensitivity of the test. The mean cost of the screening programme was US$2·32 per screened child. 39 (34%) of the families identified by neonatal screening opted for subsequent prenatal diagnosis at least once. 12 couples would have benefited from this procedure while their first child was still symptom-free. 42 healthy children were born, and 18 pregnancies were terminated (therapeutic abortion rate of 100%). We have shown the feasibility of neonatal screening for cystic fibrosis in Brittany. Through the detection of a large range of mutations, neonatal screening provides the opportunity for more reliable prenatal diagnosis and cascade screening. The neonatal screening programme described here could provide a good model for other countries intending to initiate such a scheme.
doi_str_mv 10.1016/S0140-6736(00)02652-0
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This study assesses 10 years of neonatal screening in Brittany, France, and examines its impact on prenatal screening of subsequent pregnancies in couples with an affected child. The study included all the neonates screened for cystic fibrosis in Brittany from Jan 1, 1989, to Dec 31, 1998. The screening consisted of an immunoreactive trypsinogen assay from dried blood spots, plus, from 1993, mutation analysis. Data were collected on incidence of cystic fibrosis, and genotypic and biochemical characteristics. The use of prenatal screening of subsequent pregnancies in affected families was also investigated. Of the 343 756 neonates screened, 118 children with cystic fibrosis were identified, giving an incidence of one in 2913. All mutated alleles were characterised: 34 different mutations resulting in 36 genotypes were detected. The introduction of DNA analysis into the protocol greatly reduced the recall rate and increased the sensitivity of the test. 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This study assesses 10 years of neonatal screening in Brittany, France, and examines its impact on prenatal screening of subsequent pregnancies in couples with an affected child. The study included all the neonates screened for cystic fibrosis in Brittany from Jan 1, 1989, to Dec 31, 1998. The screening consisted of an immunoreactive trypsinogen assay from dried blood spots, plus, from 1993, mutation analysis. Data were collected on incidence of cystic fibrosis, and genotypic and biochemical characteristics. The use of prenatal screening of subsequent pregnancies in affected families was also investigated. Of the 343 756 neonates screened, 118 children with cystic fibrosis were identified, giving an incidence of one in 2913. All mutated alleles were characterised: 34 different mutations resulting in 36 genotypes were detected. The introduction of DNA analysis into the protocol greatly reduced the recall rate and increased the sensitivity of the test. The mean cost of the screening programme was US$2·32 per screened child. 39 (34%) of the families identified by neonatal screening opted for subsequent prenatal diagnosis at least once. 12 couples would have benefited from this procedure while their first child was still symptom-free. 42 healthy children were born, and 18 pregnancies were terminated (therapeutic abortion rate of 100%). We have shown the feasibility of neonatal screening for cystic fibrosis in Brittany. Through the detection of a large range of mutations, neonatal screening provides the opportunity for more reliable prenatal diagnosis and cascade screening. The neonatal screening programme described here could provide a good model for other countries intending to initiate such a scheme.</abstract><cop>London</cop><pub>Elsevier Ltd</pub><pmid>11022925</pmid><doi>10.1016/S0140-6736(00)02652-0</doi><tpages>6</tpages></addata></record>
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subjects Babies
Biochemistry
Biological and medical sciences
Cystic fibrosis
Cystic Fibrosis - diagnosis
Cystic Fibrosis - epidemiology
Cystic Fibrosis - genetics
Deoxyribonucleic acid
DNA
False Negative Reactions
Family planning
Female
France - epidemiology
Gastroenterology. Liver. Pancreas. Abdomen
Genetic screening
Genotype
Genotypes
Humans
Incidence
Infant, Newborn
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Male
Medical diagnosis
Medical sciences
Medical screening
Mutation
Neonatal Screening - economics
Neonatal Screening - methods
Neonates
Other diseases. Semiology
Pregnancy
Prenatal Diagnosis
title Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis
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