Management and obstetric and perinatal outcomes of cystic hygromas

INTRODUCTION: Cystic hygroma is a congenital mono- or multiloculated cystic anomaly caused by abnormal fluid accumulation in the lymphatic system. It is the most common anomaly seen in the fetal back and neck, with an incidence of 1%. We aimed to determine the association between the diagnosis of cystic hygroma and adverse pregnancy outcomes.
METHODS: We retrospectively reviewed data on fetuses diagnosed with cystic hygroma by ultrasonography and evaluated demographic data, genetic results, anatomical screening results, and perinatal outcomes. In these cases, karyotyping was the only method available for genetic evaluation.
RESULTS: Sixty pregnancies with a cystic hygroma diagnosis were included in the study. Fifty patients (83.3%) underwent invasive procedures, 25 fetuses (42.6%) had abnormal karyotypes, and the most common karyotype was trisomy 21. Twenty-six fetuses (43.3%) had congenital anomalies. Twenty fetuses were terminated, and 23 fetuses experienced intrauterine demise. Seventeen fetuses (28.3%) were delivered, and 5 (8.3%) were alive and without complications. Hydrops fetalis and structural anomalies were associated with worse outcomes, although statistical significance was limited by sample size.
DISCUSSION AND CONCLUSION: Cystic hygroma coexists frequently with abnormal karyotypes and congenital anomalies. The fetal outcome is more favorable in the absence of additional adverse outcomes. Cytogenetic evaluation, fetal echocardiography, and second-trimester ultrasonography are essential for assessing prognosis and informing parents.

Keywords: Congenital anomalies, cystic hygroma, perinatal outcomes, prenatal diagnosis.