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Nuchal translucency thickness in the prediction of unbalanced translocations
Author(s) -
Arigita Marta,
Grande Maribel,
Mula Raquel,
Borobio Virginia,
Sanchez Aurora,
Soler Anna,
Borrell Antoni
Publication year - 2014
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4409
Subject(s) - chromosomal translocation , fetus , karyotype , confidence interval , medicine , chorionic villus sampling , pregnancy , offspring , obstetrics , gestation , prenatal diagnosis , gynecology , chromosome , biology , genetics , gene
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.