title: Nuchal translucency thickness in the prediction of unbalanced translocations.
abstract: OBJECTIVE
  The aim of this study was to assess the role of nuchal translucency (NT) in the prediction of unbalanced translocation in offspring of couples in which one of the parents is a balanced translocation carrier.
  
  
  METHODS
  From January 1996 to December 2012, fetal NT was measured before chorionic villus sampling in 86 pregnancies referred because of parental balanced translocation.
  
  
  RESULTS
  No significant differences in pregnancy characteristics and in NT expressed in millimetres or in multiples of the median (MoMs) were observed between the 41 fetuses with a normal karyotype [1.72 mm, 95% confidence interval (CI): 1.49-1.96; 1.14 MoM; 95% CI: 1.01-1.26], the 38 fetuses with balanced translocations (1.78 mm, 95% CI: 1.44-2.12; 1.22 MoM; 95% CI: 1.01-1.43) and the 7 fetuses with unbalanced translocations (2.21 mm, 95% CI: 1.33-3.09; 1.59 MoM; 95% CI: 0.72-2.45). The proportions of fetuses with NT above 95th centile in the three groups were 9.1% in fetuses with normal karyotype, 18.4% in balanced translocations and 28.6% in unbalanced translocations, not significantly different.
  
  
  CONCLUSIONS
  Although a trend to an increased NT was observed in fetuses with unbalanced translocation, no significant differences were reached. According to our results, a normal NT evaluation should not preclude the performance of CVS in pregnancies of balanced translocation parents.
authors.affiliation: Department of Obstetrics and Gynecology, Hospital General de l'Hospitalet, L'Hospitalet del Llobregat, Barcelona, Catalonia, Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: Arigita
authors.forename: Maribel
authors.initials: M
authors.lastname: Grande
authors.forename: Raquel
authors.initials: R
authors.lastname: Mula
authors.forename: Virginia
authors.initials: V
authors.lastname: Borobio
authors.forename: Aurora
authors.initials: A
authors.lastname: Sanchez
authors.forename: Anna
authors.initials: A
authors.lastname: Soler
authors.forename: Antoni
authors.initials: A
authors.lastname: Borrell
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling; D005260:Female; D006579:Heterozygote; D006801:Humans; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D014178:Translocation, Genetic