Nuchal translucency thickness in the prediction of unbalanced translocations

  • Arigita M
  • Grande M
  • Mula R
 et al. 
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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.

MATERIAL AND 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.

CONCLUSION: 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. © 2014 John Wiley & Sons, Ltd.

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  • Marta Arigita

  • Maribel Grande

  • Raquel Mula

  • Virginia Borobio

  • Aurora Sanchez

  • Anna Soler

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