From the Guidelines
Cystic hygroma, a congenital malformation of the lymphatic system, is a common cause of nonimmune hydrops fetalis (NIHF), particularly in cases of Turner syndrome (45,X) and Down syndrome (trisomy 21), with a recommended diagnostic approach including chromosomal analysis and evaluation for lymphatic dysplasia 1. When considering the etiologies of NIHF, it is essential to note that cardiovascular, chromosomal, hematologic, infectious, and lymphatic abnormalities are among the most common causes, with cystic hygroma being a significant contributor to the development of NIHF in fetuses with Turner syndrome or Down syndrome. Key points to consider in the diagnosis and management of NIHF include:
- Chromosomal abnormalities, such as Turner syndrome and Down syndrome, are common causes of NIHF, accounting for 13% of cases in a large systematic review 1
- Lymphatic dysplasia, which can lead to the development of cystic hygroma, is a significant contributor to NIHF in cases of Turner syndrome and Down syndrome
- Diagnostic testing, including chromosomal analysis and evaluation for lymphatic dysplasia, is recommended for fetuses with suspected NIHF
- The prognosis for NIHF is generally poor, particularly in cases with third-degree atrioventricular block or hydrops, and treatment with corticosteroid therapy has not been shown to be beneficial in these cases 1 In terms of management, a multidisciplinary approach is necessary, involving obstetricians, geneticists, and pediatricians, to provide comprehensive care for fetuses with suspected NIHF. It is crucial to prioritize the diagnosis and management of underlying conditions, such as chromosomal abnormalities and lymphatic dysplasia, to improve outcomes for fetuses with NIHF. The use of diagnostic testing, including chromosomal analysis and evaluation for lymphatic dysplasia, can help identify the underlying cause of NIHF and guide management decisions 1.
From the Research
Definition and Location of Cystic Hygroma
- Cystic hygroma is a benign congenital lymphatic malformation, typically located in the neck, clavicle, and other areas, commonly found in children under the age of 5 years 2, 3, 4.
- It can also occur in adults, although this is rare, and may present as a supraclavicular neck mass 3.
Symptoms and Indications for Treatment
- Cystic hygroma may be asymptomatic, but treatment is often required due to respiratory distress, recurrent infections, or cosmetic concerns 4.
- The ideal treatment is complete surgical excision, but sclerosant therapy is also used as an alternative or complementary treatment option 2, 4, 5, 6.
Treatment Options
- Surgical resection is a safe and effective treatment for cystic hygroma, especially in adults 3.
- Sclerotherapy using agents such as OK-432 2 or bleomycin 5, 6 can be an effective treatment option, especially for large or complex cystic hygromas.
- Intralesional bleomycin injection has been shown to be a safe and effective nonsurgical treatment method for cystic hygroma of the head and neck region 5, 6.
Response to Treatment
- Excellent response to treatment has been reported in 47.1% to 60% of cases using intralesional bleomycin injection 5, 6.
- Good response to treatment has been reported in 27.5% to 35.8% of cases using intralesional bleomycin injection 5, 6.
- Adverse reactions to bleomycin injection, such as fever, local swelling, and pain, have been reported in 42.9% of cases 6.