Although rare, two of the most common congenital neck masses diagnosed during pregnancy are cervical teratomas and cervical lymphatic malformations. These lesions vary in size but both have the potential to grow to such large proportions that the fetal airway and the esophagus can become distorted and obstructed.
Ultrafast fetal MRI showing cervical teratoma at 26 weeks.
As a result, pregnancies may be complicated by polyhydramnios secondary to obstruction of the fetal gastrointestinal tract, and infants may have airway compromise and be unable to breathe at birth.
In a small number of patients with cervical teratomas, the mass effect pulls the lungs into the apex of the chest and results in pulmonary hypoplasia. Unsuspected obstructive fetal giant neck masses often prove fatal because of an inability to secure an airway and ventilate the baby upon delivery, which results in hypoxia and acidosis.
Delivery of infants with neck masses
Due to the unpredictable growth pattern of these lesions, the Center for Fetal Diagnosis and Treatment at The Children’s Hospital of Philadelphia recommends close prenatal follow-up and delivery in our Garbose Family Special Delivery Unit (SDU), which has all of the necessary resources to safely secure the infant’s airway. These resources include a multidisciplinary team involving MFM specialists, anesthesiologists, a dedicated ENT airway team and pediatric surgeons.
Options for postnatal management of fetal neck masses
Postnatal management of fetal neck masses begins with determining the safest and most appropriate method for the patient to be born. If the neck mass is small and does not compromise the airway, a vaginal or cesarean delivery is possible, depending on obstetrical indications, with postnatal management of the neck mass.
EXIT procedure with laryngoscopy.
Alternatively, infants with large masses that threaten airway compromise may require delivery via the ex utero intrapartum treatment (EXIT) procedure. This procedure permits access to the fetal airway in an elective, controlled and secure manner while the fetus is still on placental support. Securing the airway during the EXIT procedure may occur via placement of an endotracheal tube or a tracheostomy. This sometimes requires partial resection, or debulking, of the neck mass.
At CHOP, we have performed 103 EXIT procedures of which 47 were performed for cervical teratomas, lymphatic malformations, oropharyngeal teratomas, and other head and neck tumors. Although both cervical teratomas and lymphatic malformations may require an EXIT for delivery, it is more often required in cases of cervical teratomas (59 percent of fetuses with a cervical teratoma evaluated at the CFDT delivered via EXIT; 11 percent of fetuses with cervical lymphatic malformations delivered via EXIT). This results from the fact that cervical teratomas can be invasive and destructive, whereas most cervical lymphatic malformations are not.
Similarly, for this reason, cervical teratomas requiring an EXIT are more likely to require tumor debulking and a tracheostomy compared to infants with cervical lymphatic malformations requiring an EXIT. As such, only 8 percent of patients with cervical lymphangiomas required surgical neck exploration to secure the airway at the time of the EXIT compared to 53 percent of patients with cervical teratomas. Furthermore, 38 percent of infants with cervical lymphatic malformations delivered by EXIT required a tracheostomy compared to 59 percent of patients with cervical teratomas.
Once the infant’s airway is secure, postnatal management options for both large and small neck masses are considered. Surgical resection is required for all cervical teratomas due to the risk of malignancy. At CHOP, infants with large cervical teratomas underwent complete resection of the mass between day of life 0 and 39 (average age at resection: 5 days). Long-term postnatal follow-up with physical exams and serum alpha-fetoprotein levels is required to monitor for recurrence.
Options for postnatal management of cervical lymphatic malformations
Postnatal management of cervical lymphatic malformations involves multiple options, including surgical resection, sclerotherapy and pharmacologic management. The choice of these options is dependent on the size and nature of the lesion. Lesions not involving vital structures may be amenable to surgical resection. Alternatively, lesions with predominantly cystic components may be candidates for sclerotherapy in which a scar-forming agent (doxycycline) is injected into the lesion to shrink and scar it down in size.
Finally, large lymphangiomas not amenable to surgical resection or sclerotherapy may be initially treated pharmacologically with agents such as vincristine, propranolol or rapamycin. Ultimately, some cervical lymphatic malformations may require a combination of treatment approaches.
Complete care from before birth through young adulthood
Emily, at age 1 and now at age 18
Our team at the Center for Fetal Diagnosis and Treatment discovered Emily had a cervical teratoma on her trachea before she was born. We delivered her via EXIT procedure and promptly removed the tumor.
After four months in our N/IICU, she was discharged and received in-home care for issues with breathing and eating, and later speech and occupational therapy. Today, she is a healthy 18-year-old college student with a bright future ahead of her.