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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 |
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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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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.</description><identifier>ISSN: 0140-6736</identifier><identifier>EISSN: 1474-547X</identifier><identifier>DOI: 10.1016/S0140-6736(00)02652-0</identifier><identifier>PMID: 11022925</identifier><identifier>CODEN: LANCAO</identifier><language>eng</language><publisher>London: Elsevier Ltd</publisher><subject>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</subject><ispartof>The Lancet (British edition), 2000-09, Vol.356 (9232), p.789-794</ispartof><rights>2000 Elsevier Ltd</rights><rights>2000 INIST-CNRS</rights><rights>Copyright Lancet Ltd. Sep 2, 2000</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c512t-bed420398b3f3780708ad55a9323ddea543de474230ccff102cd08b656767dab3</citedby><cites>FETCH-LOGICAL-c512t-bed420398b3f3780708ad55a9323ddea543de474230ccff102cd08b656767dab3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1453469$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11022925$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Scotet, Virginie</creatorcontrib><creatorcontrib>de Braekeleer, Marc</creatorcontrib><creatorcontrib>Roussey, Michel</creatorcontrib><creatorcontrib>Rault, Gilles</creatorcontrib><creatorcontrib>Parent, Philippe</creatorcontrib><creatorcontrib>Dagorne, Michel</creatorcontrib><creatorcontrib>Journel, Hubert</creatorcontrib><creatorcontrib>Lemoigne, Auguste</creatorcontrib><creatorcontrib>Codet, Jean-Pierre</creatorcontrib><creatorcontrib>Catheline, Michel</creatorcontrib><creatorcontrib>David, Véronique</creatorcontrib><creatorcontrib>Chaventré, André</creatorcontrib><creatorcontrib>Duguépéroux, Ingrid</creatorcontrib><creatorcontrib>Verlingue, Claudine</creatorcontrib><creatorcontrib>Quéré, Isabelle</creatorcontrib><creatorcontrib>Mercier, Bernard</creatorcontrib><creatorcontrib>Audrézet, Marie-Pierre</creatorcontrib><creatorcontrib>Férec, Claude</creatorcontrib><title>Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis</title><title>The Lancet (British edition)</title><addtitle>Lancet</addtitle><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.</description><subject>Babies</subject><subject>Biochemistry</subject><subject>Biological and medical sciences</subject><subject>Cystic fibrosis</subject><subject>Cystic Fibrosis - diagnosis</subject><subject>Cystic Fibrosis - epidemiology</subject><subject>Cystic Fibrosis - genetics</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>False Negative Reactions</subject><subject>Family planning</subject><subject>Female</subject><subject>France - epidemiology</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Genetic screening</subject><subject>Genotype</subject><subject>Genotypes</subject><subject>Humans</subject><subject>Incidence</subject><subject>Infant, Newborn</subject><subject>Liver. Biliary tract. Portal circulation. Exocrine pancreas</subject><subject>Male</subject><subject>Medical diagnosis</subject><subject>Medical sciences</subject><subject>Medical screening</subject><subject>Mutation</subject><subject>Neonatal Screening - economics</subject><subject>Neonatal Screening - methods</subject><subject>Neonates</subject><subject>Other diseases. 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Liver. Pancreas. Abdomen</topic><topic>Genetic screening</topic><topic>Genotype</topic><topic>Genotypes</topic><topic>Humans</topic><topic>Incidence</topic><topic>Infant, Newborn</topic><topic>Liver. Biliary tract. Portal circulation. Exocrine pancreas</topic><topic>Male</topic><topic>Medical diagnosis</topic><topic>Medical sciences</topic><topic>Medical screening</topic><topic>Mutation</topic><topic>Neonatal Screening - economics</topic><topic>Neonatal Screening - methods</topic><topic>Neonates</topic><topic>Other diseases. 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Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis</atitle><jtitle>The Lancet (British edition)</jtitle><addtitle>Lancet</addtitle><date>2000-09-02</date><risdate>2000</risdate><volume>356</volume><issue>9232</issue><spage>789</spage><epage>794</epage><pages>789-794</pages><issn>0140-6736</issn><eissn>1474-547X</eissn><coden>LANCAO</coden><abstract>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.</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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