Fetuses with cystic hygroma - A retrospective study

Background. The aim of this study is to analyse several theories of pathoge nesis of cystic hygroma, its correlation with chromosomal abnormalities and the indicators of poor or good prognosis. Methods. Experimental design: This is a retrospective study that evaluates all casts of cystic hygroma seen during the four-year period from January 1 994 to December 1997. Setting: This study was performed in the center of pr enatal diagnosis of institutional hospital in Caserta. Patients: All cases of fetuses with cystic hygroma were examined in 2100 pregnant female who vi sited the ambulalory. Interventions: The modality of diagnosis of this path ology and the presence of abnormal maternal serum levels of alpha-fetoprote in, human chorionic gonadotropin and unconjugated estriol were evaluated. M oreover, the presence of karyotype abnormalities or other non chromosomal a bnormalities were also evaluated. Prognostic indicators such as the presenc e of septae seen by sonography were examined. Results. Nine fetuses with cystic hygroma were diagnosed sonographically. S eptae were identified in six cases. Chromosomal abnormalities were found in five cases. Two cases presented Turner's syndrome and one case Downs' synd rome. There were two cases with associated anomalies. The amniotic fluid al pha-fetoprotein (AFP) levels were high in all cases. Conclusions. Cystic hygroma is a malformation of the lymphatic system that is diagnosed by ultrasound very well from the first quarter of pregnancy It is frequently associated with chromosomal and non chromosomal abnormalitie s. The presence of septae in it and amniotic fluid AFP levels are prognosti c indicators.