title: Prenatal diagnosis of haemophilia: our experience of 44 cases.
abstract: BACKGROUND
  Haemophilia A and B (HA, HB) are the most frequent X-linked bleeding diseases; two-thirds of cases are severe.
  
  
  METHODS
  We counselled 51 couples for prenatal diagnosis (PD) of haemophilia. In 7/51 (13.7%) cases, the couple decided not to undergo PD because counselling revealed that they were carriers of a mild form of the disease, while we performed 44 PD for severe HA (36 cases) or HB (8 cases). The indication for PD was a haemophilic child (30/44, 68.2%) or an affected family member (12/44, 27.3%); in two cases the non-carrier mother of isolated haemophilic patients requested PD because of the risk of mosaicism.
  
  
  RESULTS
  We completed PD in 43/44 cases; in one case, the prenatal sample was contaminated by maternal DNA; however, molecular analysis revealed the female sex of the foetus. We performed PD for 16 of the 36 couples at risk of HA (44.4%) by analysing the intron (IVS)22 inversion; in 1/36 cases (2.8%) the mother had the IVS1 inversion, and in 8/36 (22.2%) the family mutation was identified by sequencing; in 11/36 (30.6%) cases the family mutation was unknown, and PD was performed by linkage (no recombination nor uninformative cases occurred). For HB, in 6/8 (75.0%) cases, PD was performed by DHPLC or by sequencing; in 2/8 cases we tested intragenic markers (again with no cases of recombination or uninformative families).
  
  
  CONCLUSIONS
  PD in well-equipped laboratories, and multidisciplinary counselling are an aid to planning reproductive and early therapeutic strategies in families with severe haemophilia.
authors.forename: Federica
authors.initials: F
authors.lastname: Zarrilli
authors.forename: Veronica
authors.initials: V
authors.lastname: Sanna
authors.forename: Rosaria
authors.initials: R
authors.lastname: Ingino
authors.forename: Rita
authors.initials: R
authors.lastname: Santamaria
authors.forename: Angiola
authors.initials: A
authors.lastname: Rocino
authors.forename: Antonio
authors.initials: A
authors.lastname: Coppola
authors.forename: Giovanni
authors.initials: G
authors.lastname: Di Minno
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Castaldo
mesh_terms: D005260:Female; D005817:Genetic Counseling; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis