title: Cascade testing in families of carriers identified through newborn screening in Western Brittany (France).
abstract: BACKGROUND
  Newborn screening (NBS) for cystic fibrosis (CF) can lead to the detection of healthy carriers. We report a unique assessment of family testing following the identification of carriers by NBS for over 20 years, in an area where CF is frequent.
  
  
  METHODS
  We reviewed all of the carriers identified by NBS between 1991 and 2010 and registered the tests done in those families.
  
  
  RESULTS
  NBS identified 0.1% of the newborns as carriers, which correspond only to 2.6% of the expected carriers born within the period, and 1/3 of those with an increased IRT level. Of the 195 families, 75.9% requested testing (2.5 tests per family). We identified 183 carriers and five 1-in-4 risk couples. Reassurance about genetic status was provided to 96% of the couples.
  
  
  CONCLUSIONS
  Carriers detected by NBS appeared to be well managed in our area, and cascade testing that informs on genetic status seems relatively active.
authors.affiliation: Inserm, U1078, Brest, F-29200, France. ingrid.dugueperoux@univ-brest.fr
authors.forename: Ingrid
authors.initials: I
authors.lastname: Duguépéroux
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Audrézet
authors.forename: Philippe
authors.initials: P
authors.lastname: Parent
authors.forename: Séverine
authors.initials: S
authors.lastname: Audebert-Bellanger
authors.forename: Michel
authors.initials: M
authors.lastname: Roussey
authors.forename: Claude
authors.initials: C
authors.lastname: Férec
authors.forename: Virginie
authors.initials: V
authors.lastname: Scotet
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D005192:Family Health; D005260:Female; D005602:France; D005820:Genetic Testing / Q000379:methods; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening