Objective: To describe prenatal diagnostic characteristics and pregnancy outcomes of fetuses with cystic hygroma at the National Hospital of Obstetrics and Gynecology.
Methods: A descriptive cross-sectional study included 227 singleton pregnancies with fetal cystic hygroma managed at the Prenatal Diagnosis Center. Maternal age, gestational age at diagnosis, nuchal translucency (NT), associated structural anomalies, invasive genetic-test findings and pregnancy outcomes were analyzed.
Results: Median maternal age was 30 years (IQR 27-35); 74.4% were diagnosed at 11-13 weeks 6 days. Mean NT was 8.31 mm. Isolated cystic hygroma accounted for 71.8%, and hydrops was the most frequent associated abnormality (39.2%). Amniocentesis was performed in 38/227 cases (16.7%); chromosomal/genetic findings were reported in 18/38 tested cases (47.4%). Pregnancy termination occurred in 87.7%, miscarriage in 2.2%, live birth in 7.9%, and 2.2% remained under follow-up. NT category was associated with a normal live-birth outcome (p<0.001), with the highest favorable rate when NT was <6 mm.
Conclusions: Fetal cystic hygroma was usually detected in the first trimester and was associated with frequent adverse pregnancy outcomes. NT thickness and associated fetal anomalies are important for prenatal counseling, genetic testing and pregnancy management.