title: De novo balanced chromosome rearrangements in prenatal diagnosis.
abstract: OBJECTIVE
  We surveyed the datasheets of 29 laboratories concerning prenatal diagnosis of de novo apparently balanced chromosome rearrangements to assess the involvement of specific chromosomes, the breakpoints distribution and the impact on the pregnancy outcome.
  
  
  METHODS
  By means of a questionnaire, data on 269.371 analyses performed from 1983 to 2006 on amniotic fluid, chorionic villus and fetal blood samples were collected.
  
  
  RESULTS
  A total of 246 balanced anomalies were detected at frequencies of 72% for reciprocal translocations, 18% for Robertsonian translocations, 7% for inversions and 3% for complex chromosome rearrangements. The total frequencies of balanced rearrangements were 0.09%, 0.08% and 0.05% on amniotic fluid, chorionic villus and fetal blood samples.
  
  
  CONCLUSIONS
  A preferential involvement of chromosomes 22, 7, 21, 3, 9 and 11 and a less involvement of chromosomes X, 19, 12, 6 and 1 was observed. A nonrandom distribution of the breakpoints across chromosomes was noticed. Association in the location of recurrent breakpoints and fragile sites was observed for chromosomes 11, 7, 10 and 22, while it was not recorded for chromosome 3. The rate of pregnancy termination was about 20%, with frequencies decreasing from complex chromosomal rearrangements (33%), reciprocal translocations (24%) to inversions (11%) and Robertsonian translocations (3%).
authors.affiliation: Lab Citogenetica Medica e Genetica Molecolare, IRCCS Ist. Auxologico Italiano, Milano, Italy. giardino@auxologico.it
authors.forename: Daniela
authors.initials: D
authors.lastname: Giardino
authors.forename: Cecilia
authors.initials: C
authors.lastname: Corti
authors.forename: Lucia
authors.initials: L
authors.lastname: Ballarati
authors.forename: Daniela
authors.initials: D
authors.lastname: Colombo
authors.forename: Elena
authors.initials: E
authors.lastname: Sala
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Villa
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Piombo
authors.forename: Mauro
authors.initials: M
authors.lastname: Pierluigi
authors.forename: Francesca
authors.initials: F
authors.lastname: Faravelli
authors.forename: Silvana
authors.initials: S
authors.lastname: Guerneri
authors.forename: Domenico
authors.initials: D
authors.lastname: Coviello
authors.forename: Faustina
authors.initials: F
authors.lastname: Lalatta
authors.forename: Ugo
authors.initials: U
authors.lastname: Cavallari
authors.forename: Daniela
authors.initials: D
authors.lastname: Bellotti
authors.forename: Sergio
authors.initials: S
authors.lastname: Barlati
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Croci
authors.forename: Fabrizia
authors.initials: F
authors.lastname: Franchi
authors.forename: Elisa
authors.initials: E
authors.lastname: Savin
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Nocera
authors.forename: Francesco Paolo
authors.initials: FP
authors.lastname: Amico
authors.forename: Paola
authors.initials: P
authors.lastname: Granata
authors.forename: Rosario
authors.initials: R
authors.lastname: Casalone
authors.forename: Lucia
authors.initials: L
authors.lastname: Nutini
authors.forename: Ermanna
authors.initials: E
authors.lastname: Lisi
authors.forename: Francesca
authors.initials: F
authors.lastname: Torricelli
authors.forename: Ursula
authors.initials: U
authors.lastname: Giussani
authors.forename: Barbara
authors.initials: B
authors.lastname: Facchinetti
authors.forename: Ginevra
authors.initials: G
authors.lastname: Guanti
authors.forename: Marilena
authors.initials: M
authors.lastname: Di Giacomo
authors.forename: Francesco Paolo
authors.initials: FP
authors.lastname: Susca
authors.forename: Vanna
authors.initials: V
authors.lastname: Pecile
authors.forename: Lorenza
authors.initials: L
authors.lastname: Romitti
authors.forename: Laura
authors.initials: L
authors.lastname: Cardarelli
authors.forename: Erika
authors.initials: E
authors.lastname: Racalbuto
authors.forename: Maria Adalgisa
authors.initials: MA
authors.lastname: Police
authors.forename: Francamaria
authors.initials: F
authors.lastname: Chiodo
authors.forename: Ornella
authors.initials: O
authors.lastname: Rodeschini
authors.forename: Patrizia
authors.initials: P
authors.lastname: Falcone
authors.forename: Emilio
authors.initials: E
authors.lastname: Donti
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Grimoldi
authors.forename: Emanuela
authors.initials: E
authors.lastname: Martinoli
authors.forename: Sabine
authors.initials: S
authors.lastname: Stioui
authors.forename: Daniele
authors.initials: D
authors.lastname: Caufin
authors.forename: Salvatrice Antonia
authors.initials: SA
authors.lastname: Lauricella
authors.forename: Salvatrice Antonella
authors.initials: SA
authors.lastname: Tanzariello
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Voglino
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Lenzini
authors.forename: Marco
authors.initials: M
authors.lastname: Besozzi
authors.forename: Lidia
authors.initials: L
authors.lastname: Larizza
authors.forename: Leda
authors.initials: L
authors.lastname: Dalprà
mesh_terms: D000653:Amniotic Fluid; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D003625:Data Collection; D005260:Female; D006801:Humans; D007558:Italy / Q000453:epidemiology; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*