title: Prenatal diagnosis of inherited diseases: 20 years' experience of an Italian Regional Reference Centre.
abstract: BACKGROUND
  The demand for molecular prenatal diagnosis (PD) of inherited diseases to help high-risk couples make informed reproductive decisions has increased in the past decade.
  
  
  METHODS
  We provided multidisciplinary pre-test counselling to 1248 couples at high risk of having a child affected by an inherited disease.
  
  
  RESULTS
  After multidisciplinary counselling, 1171 couples requested PD for one of 73 inherited diseases. Of these, 995 (85.0%) were performed on DNA from chorionic villi (CV) and 176 (15.0%) on samples from amniocentesis. The occurrence of pregnancy loss (0.6%) and major complications did not differ significantly between the two groups. We made a diagnosis in all cases (including 8 twin pregnancies) except in 4/995 cases of CV sampling (0.4%) and in 3/176 of amniocentesis (1.7%) due to insufficient DNA. In 15 cases, molecular analysis revealed non-paternity.
  
  
  CONCLUSIONS
  PD by analysis of foetal DNA from CV is a reliable aid in reproduction decision-making for couples at high risk of inherited diseases. The complexity of experimental procedures and the specific expertise required for the pre- and post-test multidisciplinary counselling suggest that PD be performed in reference centres also within the framework of supranational networks.
authors.forename: Giuseppe Maria
authors.initials: GM
authors.lastname: Maruotti
authors.forename: Giulia
authors.initials: G
authors.lastname: Frisso
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Calcagno
authors.forename: Giuliana
authors.initials: G
authors.lastname: Fortunato
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Castaldo
authors.forename: Pasquale
authors.initials: P
authors.lastname: Martinelli
authors.forename: Lucia
authors.initials: L
authors.lastname: Sacchetti
authors.forename: Francesco
authors.initials: F
authors.lastname: Salvatore
mesh_terms: D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D005191:Family Characteristics; D005260:Female; D005333:Fetus / Q000378:metabolism; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007558:Italy; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis