LAUSR

Abstract The aim of this study is to retrospectively examine invasive diagnostic methods, structural anomalies accompanying cystic hygroma, and pregnancy outcomes in cystic hygroma cases admitted to a tertiary centre. The population of the study consisted of 29 live foetuses with cystic hygroma in the foetal neck only in the first or second trimester. In the study, pregnant women who applied to our centre were included. Amniocentesis or chorionic villus sampling was performed for genetic analysis according to the weeks of the pregnant women who were diagnosed with cystic hygroma by ultrasound examination by two clinicians experienced in foetal anomaly. Of the pregnant women included in the study, 10 had normal karyotype, 12 had abnormal karyotype and 13 had structural abnormality. It is very important to provide genetic counselling to the families of foetuses with cystic hygroma with a multidisciplinary team approach consisting of neonatologists, paediatric surgeons and experienced sonographers. Implications for rehabilitation What is already known on this subject? Cystic hygroma, also known as cystic lymphangioma, is a congenital cystic malformation often seen in the first trimester, which occurs in the foetal neck due to the failure of the connections between the cervical lymphatic vessels and the jugular venous system to develop normally. Cystic hygroma may be isolated, but highly associated with foetal aneuploidy, hydrops fetalis, abnormal foetal nuchal translucency. What do the results of this study add? Invasive prenatal diagnostic tests (CVS or amniocentesis) should be performed in all patients with cystic hygroma, as cystic hygromas can be diagnosed by first trimester foetal genetic sonogram screening and are largely accompanied by chromosomal abnormalities. What are the implications of these findings for clinical practice and/or further research? In foetuses with cystic hygroma, foetal karyotyping, detailed sonography and their documentation, genetic counselling is important to families of cystic hygroma foetuses with a multidisciplinary team approach consisting of neonatologists, paediatric surgeons and maternal foetal medicine specialists, since there is a high risk for aneuploidy and foetal malformation.