title: Prenatal screening of Cystic Fibrosis: a single centre experience.
abstract: OBJECTIVE
  The gene responsible for the pathogenesis of cystic fibrosis has been known for over 15 years and represent the most common autosomal recessive disease in the european population. We aimed to investigate the incidence of this condition during fetal life.
  
  
  METHODS
  In the past 10 years we examined in our centre 25393 fetuses of women underwent to amniocentesis. We carried out the examination of the most frequent mutations which enable, according to the literature data, the identification of almost 80% of the affected alleles.
  
  
  RESULTS
  We identified 922 heterozygous and 9 homozygous for the mutation. The frequency of heterozygousin the examined sample was 1/27,5 while that of the affected was 1/2821.
  
  
  CONCLUSIONS
  We encourage new thoughts regarding the diagnostic validity of the most frequent panel of mutations among the italian population in order to exclude never encountered mutations and the insertion of other more significant mutations.
authors.affiliation: "Artemisia" Fetal-Maternal Medical Centre, Department of Prenatal Diagnosis, Rome, Italy.
authors.forename: Domenico
authors.initials: D
authors.lastname: Bizzoco
authors.forename: Alvaro
authors.initials: A
authors.lastname: Mesoraca
authors.forename: Antonella
authors.initials: A
authors.lastname: Cima
authors.forename: Monica
authors.initials: M
authors.lastname: Sarti
authors.forename: Gianluca
authors.initials: G
authors.lastname: Di Giacomo
authors.forename: Giovanna
authors.initials: G
authors.lastname: Scerra
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Barone
authors.forename: Manuela
authors.initials: M
authors.lastname: Di Natale
authors.forename: Ivan
authors.initials: I
authors.lastname: Gabrielli
authors.forename: Caterina
authors.initials: C
authors.lastname: Tamburino
authors.forename: Claudia
authors.initials: C
authors.lastname: Scargiali
authors.forename: Cristina
authors.initials: C
authors.lastname: Ernandez
authors.forename: Maria Pia
authors.initials: MP
authors.lastname: D'Aleo
authors.forename: Michele
authors.initials: M
authors.lastname: Todini
authors.forename: Rita
authors.initials: R
authors.lastname: Pompili
authors.forename: Luisa
authors.initials: L
authors.lastname: Mobili
authors.forename: Lucia
authors.initials: L
authors.lastname: Mangiafico
authors.forename: Ornella
authors.initials: O
authors.lastname: Carcioppolo
authors.forename: Claudio
authors.initials: C
authors.lastname: Coco
authors.forename: Pietro
authors.initials: P
authors.lastname: Cignini
authors.forename: Laura
authors.initials: L
authors.lastname: D'Emidio
authors.forename: Alessandra
authors.initials: A
authors.lastname: Girgenti
authors.forename: Cristiana
authors.initials: C
authors.lastname: Brizzi
authors.forename: Alessandro
authors.initials: A
authors.lastname: Cavaliere
authors.forename: Claudio
authors.initials: C
authors.lastname: Giorlandino