VP04.15: Prenatal diagnosis and outcome of fetal cystic hygroma

Abstract

To investigate the outcome of fetuses with cystic hygroma diagnosed at the first trimester from a general population in Crete. The study included pregnancies either referred to or admitted to our clinic in the General Hospital of Chania during the past decade, with a diagnosis of fetal cystic hygroma made between the 10th and 14th week. Diagnosis was made sonographically, with midsagittal and transverse views of the fetal neck demonstrating markedly increased nuchal translucency (> = 95th percentile for CRL), excessive nuchal fluid and septations, albeit with an intact spinal column and skull. Fetal karyotyping and genetic counselling were routinely offered to the parents. Pregnancy outcomes varied from miscarriage, elective termination, intrauterine death (at or above 22 weeks of gestation) to livebirth and/or neonatal death. 21 cases of fetal cystic hygroma were recorded. The mean sise of the defect was 7.3mm. Cardiac malformations were detected in 4 cases and micrognathia in one. Chromosomal abnormalities were present in 47.6% of cases, with 5 of them diagnosed as Down's syndrome. 6 pregnancies with normal karyotype resulted in livebirths, where no severe structural abnormalities were present. In total, an unfavourable outcome (miscarriage, elective termination, severe malformations) was recorded in 71,4% of the cases. Fetal cystic hygroma is a strong indicator of karyotype abnormalities and cardiac defects. The postnatal outcome of fetuses with cystic hygroma appears to be in relation to the presence of structural and/or chromosomal abnormalities.