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OP08.06: Is aberrant right subclavian artery in fetuses a risk factor for microscopic and submicroscopic chromosomal aberrations?

Objectives: To investigate pregnancy outcome for fetuses with nuchal translucency (NT) ≥ 3.5 mm but normal karyotype and CMA. Methods: A retrospective population-based cohort study was performed. All patients referred to our institution for nuchal translucency ≥ 3.5 mm were included into the study. We proposed a fetal karyotype by invasive testing to all patients. We followed prenatally all patients until delivery; pregnancy outcome was also recorded and defined as adverse (termination of pregnancy [TOP], miscarriage [MC], or delivery of a child with structural defects or genetic disorders), or favourable (delivery of a child without any structural defects or genetic disorders diagnosed before discharge). Results: From October 2012 to November 2016, we identified 74 fetuses with NT ≥ 3.5 mm with normal karyotype and CMA. The mean maternal age was 33 years. An adverse perinatal outcome was observed in 27% of cases. In 3 cases (4%) a MC was observed and in one case a premature delivery at 25 WG with post-natal death was observed. The ultrasonographic follow-up showed 6 cases of major congenital heart diseases (CHD) and 4 cases of minor CHD. Further 4 cases of major anomalies were detected at ultrasonographic follow-up including diaphragmatic hernia, Dandy Walker malformation associated with skeletal dysplasia, hydronephrosis and discordance anomaly in monochorionic twins. Conclusions: Adverse pregnancy outcome increases with NT ≥ 3.5 mm, even with normal karyotype and CMA, as in one third of cases a congenital malformation or a MC was observed.