Objectives: This study was planned to observe the effect of septation and nuchal translucency (NT) on the outcomes of karyotype analysis in cystic hygroma (CH) patients.
Methods: Between 2010 and 2014, 84 patients who were suspected to have elevated NT thickness (>3 mm) or CH were included in this study and were retrospectively investigated. Patients were evaluated in two different categories that were divided into four groups: 1) those with NT thickness between 3 and 5 mm (n=47), 2) those with NT thickness >5 mm (n=37), 3) those with cystic septation (n=43), and 4) those without septation (n=41).
Results: The rate of aneuploidy was found to be 36.1% in CH patients with NT thickness of 35 mm, whereas this rate was found to be 56% in CH patients with NT thickness >5 mm. In the statistical comparison of these two groups, NT thickness >5 mm increased the aneuploidy risk, but it was not statistically significant (P=0.232). The aneuploidy rate was found to be 79% in CH patients with septation, whereas it was 9.7% in CH patients without septation. On statistical comparison of CH groups with and without septation, it was observed that CH septation was statistically significant in terms of karyotype anomaly (P=0.021).
Conclusion: As a result of aneuploidy in the absence of NT thickness ≥5 mm are not found to be statistically significant increased risk, the risk of aneuploidy septal cysts were found to be statistically increase. Further studies are required to explain this.