First trimester cystic hygroma colli: Retrospective analysis in a tertiary center

OBJECTIVE: This retrospective study aims to evaluate the incidence, presence of chromosomal anomalies and outcome of fetuses diagnosed with cystic hygroma colli in the first trimester in a single tertiary center. STUDY DESIGN: A retrospective study was performed over a ten-years period from 2007 to 2017 of all fetuses with a first-trimester diagnosis of cystic hygroma. Maternal and fetal parameters were assessed with descriptive statistics. RESULTS: A total of 185 singleton pregnancies were included. Chromosomal anomalies were present in 122 cases (65.9%). Sixty-three fetuses (34.1%) had a normal karyotype. Noonan syndrome was diagnosed in 6 cases using additional testing for RASopathies. In euploid fetuses, a major congenital anomaly was detected in 35 of 63 cases (56%) and if present, 91.4% had an abnormal fetal outcome compared to 32.1% if no structural anomaly was found (p