A mother brings her newborn daughter to the clinic complaining of a mass in the neck

A mother brings her newborn daughter to the clinic complaining of a mass in the neck. Since the infant was born at home, there are no medical records. The mother claims the birth was uneventful. The infant has no symptoms. The lesion is shown below and it transilluminates with light. What work up will you perform next?

A. Biopsy

B. CT scan of the neck

C. Karyotyping

D. Barium swallow

E. Bronchoscopy

F. Echocardiogram

  1. Cystic hygromas are usually unilateral cystic structures located in the occipital-cervical region of the fetal neck. They are differentiated from nuchal edema by the presence of the nuchal ligament (midline septum).

  2. Cystic hygroma is caused by defects in the formation of the neck lymphatics. It is the most common form of lymphangioma (75% are located on the neck, 20% in the axillary region and 5% on the chest wall, abdominal wall and extremities).

  3. Chromosomal abnormalities, mainly Turner syndrome, are found in about 50% of cases. Detailed ultrasound examination, including Invasive testing for karyotyping and array are recommended.

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