title: Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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%).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Laboratoire de Génétique Moléculaire et d'Histocompatibilité, CHU Morvan, UBO, EFS-Bretagne, Brest, France.
authors.forename: V
authors.initials: V
authors.lastname: Scotet
authors.forename: M
authors.initials: M
authors.lastname: de Braekeleer
authors.forename: M
authors.initials: M
authors.lastname: Roussey
authors.forename: G
authors.initials: G
authors.lastname: Rault
authors.forename: P
authors.initials: P
authors.lastname: Parent
authors.forename: M
authors.initials: M
authors.lastname: Dagorne
authors.forename: H
authors.initials: H
authors.lastname: Journel
authors.forename: A
authors.initials: A
authors.lastname: Lemoigne
authors.forename: J P
authors.initials: JP
authors.lastname: Codet
authors.forename: M
authors.initials: M
authors.lastname: Catheline
authors.forename: V
authors.initials: V
authors.lastname: David
authors.forename: A
authors.initials: A
authors.lastname: Chaventré
authors.forename: I
authors.initials: I
authors.lastname: Duguépéroux
authors.forename: C
authors.initials: C
authors.lastname: Verlingue
authors.forename: I
authors.initials: I
authors.lastname: Quéré
authors.forename: B
authors.initials: B
authors.lastname: Mercier
authors.forename: M P
authors.initials: MP
authors.lastname: Audrézet
authors.forename: C
authors.initials: C
authors.lastname: Férec
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D005188:False Negative Reactions; D005260:Female; D005602:France / Q000453:epidemiology; D005838:Genotype; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000191:economics / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis