Purpose of investigation: To report our experience of autopsied cases of fetal cystic hygroma (CH) and discuss the role of fetal autopsy in genetic counseling.
Methods: A review of autopsy reports at our institution revealed 18 cases of fetal CH over a 10-year period (from 2000 to 2010). The clinical data, results of cytogenetic analysis and prenatal ultrasound findings were also retrieved and compared to the autopsy findings.
Results: Fetal death was due to intrauterine death in eight cases, therapeutic abortion in eight cases and spontaneous abortion in two cases. Cytogenetic analysis was available in 12 cases, and the results showed an abnormal karyotype in seven cases (5 cases of Turner syndrome and 2 cases of trisomy 21). The mean size of CH was 5.4 cm. Other malformations or findings suggestive of the cause of fetal death were diagnosed in 10/18 cases (55.6%). The most common autopsy findings were hydrops and central nervous system anomalies. The autopsy findings were in agreement with the prenatal ultrasound findings in 13/18 cases (72.2%), while in five cases (27.8%) additional findings were detected during autopsy. The most common placental abnormalities were infarcts and calcifications.
Conclusion: In addition to prenatal diagnostic studies, fetal autopsy and pathologic examination of fetal and placental tissues may help to establish the exact cause of death and disclose important information as to the presence of various fetal malformations or placental abnormalities.