What is a Cystic Hygroma?

A cystic hygroma is a lymphatic malformation in the fetus. It occurs most commonly in the fetal head and neck area and often appears as a soft bulge under the skin seen on ultrasound scan. Some cystic hygromas may resolve later in the pregnancy, while others may remain the same size or continue to increase in size throughout the pregnancy.

Fetal cystic hygromas have an association with chromosome disorders. Cystic hygroma is strongly associated with Turner syndrome (usually 45X), trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and Noonan syndrome. While a strong association with chromosome abnormalities and other syndromes is known, some cystic hygromas can occur in otherwise healthy fetuses and babies.

For these babies, postnatal treatment is aimed at improving the appearance and alleviation of some physical complications. What happens next? After a cystic hygroma has been detected, the sonographer or doctor will look closely at the fetus for any other markers.

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