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- Benign congenital lymphatic mass (LM) that is cystic in nature
- Most commonly found in the posterior triangle of the neck (75%)
- Can be found in other sites of the body, including the axilla, superior mediastinum, groin, retroperitoneum, and lower limbs
- Synonym(s): Cystic hygroma and lymphangioma are outdated terms for lymphatic malformation.
- No gender predominance noted
- Most series report no racial predominance.
- Estimated at cases: 1/6,000 to 16,000 live births
- 50–60% of cases found at birth, 90% seen by 2nd year of life
Etiology and Pathophysiology
- Results from maldevelopment or obstruction of lymphatic system
- Commonly associated with venous malformations, as both tend to develop concurrently
- Decreased outflow of lymphatics to venous system and abnormal budding of lymphatic tissue create noncommunicating lymphatic tissue and resultant formation of cystic components.
- Lesions are typically nonproliferative and rarely undergo spontaneous regression.
- Karyotypic abnormalities are often present when a cystic hygroma is found by fetal US.
- Commonly associated karyotypic abnormalities include Turner, Down, Klinefelter syndromes, and trisomies 13 and 18.
- Genomic microarrays may provide genetic information in cases of abnormal US with normal karyotype (1)[A].
Associated with advanced maternal age or from environmental factors like maternal virus infection or alcohol abuse during pregnancy (2)
- Large lesions may be seen prenatally during 1st or 2nd trimester with fetal US or MRI.
- Bianchi et al. (2)[B] accurately identified 107 of 113 aneuploid cases of cystic hygromas previously diagnosed with chorionic villus using massively parallel sequencing, which is a noninvasive modality.
When diagnosed prenatally, overall prognosis is poor. More specifically, the prenatal finding of septated cystic hygroma carries a worse prognosis due to a progression to nonimmune hydrops. Diagnosis following birth is more associated with a better prognosis.
Commonly Associated Conditions
- Turner syndrome
- Down syndrome
- Klinefelter syndrome
- Trisomy 13
- Trisomy 18
- Cardiac abnormalities
- Noonan syndrome
- Multiple pterygium syndrome
- Fetal alcohol syndrome
- Fetal hydrops