Cystic Hygroma
Pronunciation: SIS-tik hy-GROH-mah
A fluid-filled sac in the fetal neck region associated with lymphatic system abnormalities and chromosomal disorders.
Full Definition
Cystic hygroma is a congenital malformation characterized by abnormal lymphatic vessel development resulting in fluid-filled cystic spaces, most commonly in the posterior neck region. These lesions appear as septated or non-septated cystic structures on prenatal ultrasound and are strongly associated with chromosomal abnormalities, particularly Turner syndrome (45,X). Large cystic hygromas can extend into the thoracic cavity and may be associated with fetal hydrops. The presence of cystic hygroma warrants immediate genetic counseling and consideration for invasive diagnostic testing to evaluate for underlying chromosomal abnormalities.
Usage
Usage note: Two words, never hyphenated despite adjectival usage.
In Context
- "A large cystic hygroma was detected with associated fetal hydrops and pleural effusions." — Ultrasound report
- "Genetic testing was recommended following the diagnosis of cystic hygroma." — Genetic counseling note