Cystic hygroma (CH) is a vascular-lymphatic malformation and can occur either as an isolated finding or as a part of a syndrome. The incidence of CH is about 1:1000-1:6000 births. Ultrasonographic diagnosis of CH is usually obtained in the first trimester, and the lesion can appear in septated or non-septated forms. Increased nuchal translucency and CH have been associated with a wide range of structural and genetic abnormalities. Most of CHs are associated with a number of chromosomal abnormalities especially Trisomy 21, 13, 18 and Turner syndrome. Besides, the associations between CH and non-chromosomal syndromes were also reported and Noonan Syndrome (NS) is one of the leading causes. Approximately 50% of NS cases are caused by mutations in the PTPN11 gene. A novel PTPN11 mutation defined in two separate fetuses with CH and associated with NS phenotype is being reported here.
Keywords: Cystic hygroma; PTPN11; RASopathy.