ABSTRACT
Objective To discuss the diagnosis and management options of fetal nuchal cystic hygroma(NCH). Methods Ten cases of fetal nuchal cystic hygroma from Mar 1996 to Mar 2003 were retrospectively analyzed. The sonographic images, fetal karyotype examination after amniocentesis, TORCH results and pathology were reviewed. Results The sonogram detected a large cystic mass around the posterior of the neck. The smallest one was 5.3 cm?4.8 cm?4.0 cm in size and the biggest 12.6 cm?6.6 cm?4.0 cm. The nuchal ligament could be seen inside the mass. Four cases complicated with pleural effusions and 4 with pleural effusions, ascites and skin edema. One case was deliveried in full term and the other 9 cases were induced (including 4 fetal death). Seven cases were examined for TORCH of amniotic fluid among which only one TOX PCR positive. The karyotype examination was performed in 6 cases. The results were 45XO(3 cases), 45XO/46XX (60:40) and 45XX,-21,-22,+t(21;22). The only alive baby is 46XX. Conclusions Ultrasound and invasive amniocentesis to detect the fetal karyotype have an important role in early diagnosis and management of nuchal cystic hygroma. Nuchal cystic hygromas are associated with Turner’s syndrome and other chromosomal abnormalities.