Role of prenatal imaging in the diagnosis and management of fetal facio-cervical masses

Abstract

Congenital facio-cervical masses can be a developmental anomaly of cystic, solid, or vascular origin, and have an inseparable relationship with adverse prognosis. This retrospective cross-sectional study aimed at determining on the prenatal diagnosis of congenital facio-cervical masses, its management and outcome in a large tertiary referral center. We collected information on prenatal clinical data, pregnancy outcomes, survival information, and final diagnosis. Out of 130 cases of facio-cervical masses, a total of 119 cases of lymphatic malformations (LMs), 2 cases of teratoma, 2 cases of thyroglossal duct cyst, 4 cases of hemangioma, 1 case of congenital epulis, and 2 cases of dermoid cyst were reviewed. The accuracy of prenatal ultrasound was 93.85% (122/130). Observations of diameters using prenatal ultrasound revealed that the bigger the initial diameter is, the bigger the relative change during pregnancy. Magnetic resonance imaging (MRI) revealed that 2 cases of masses were associated with airway compression. In conclusion, ultrasound has a high overall diagnostic accuracy of fetal face and neck deformities. Prenatal US can enhance the management of ambulatory monitoring and classification. Furthermore, MRI provided a detailed assessment of fetal congenital malformations, as well as visualization of the trachea, presenting a multi-dimensional anatomical relationship.

Figure 1

The figures show the survival information and prenatal imaging features of fetal facio-cervical masses.

Figure 2

A submandibular teratoma at 29 weeks of gestational age. (A–D) Upon prenatal ultrasonic imaging, we found that the giant tumour (T) was with a slightly high intensity echo, high echo lesions with posterior acoustic shadowing at the central region (white arrow), capsule echo at marginal region (blue arrow). Color Doppler imaging showed rich internal blood flow. (E–I) On fetal MRI, the lesion was cystic-solid, calcified foci is striped low signal. Diffusion weighted imaging (DWI, b = 800) showed diffusion restriction in solid region (Fig H). Left and right internal carotid arteries were clearly visible (Fig F, Fig G). MR volume reconstruction (VR) image clearly showed the relationship and morphology of mass. (J) Neonatal radiography demonstrated huge high-density lesions with calcification (white arrow) under the jaw. (K) Image of the newborn after endotracheal intubation. (L) The pathological specimen was confirmed to be a mature cystic-solid teratoma (HE staining, × 100 magnification).

Figure 3

A lymphatic malformation (LM) at 17 weeks of gestational age. (A) Prenatal ultrasound exhibited a large anechoic lesion (7.3 × 6.35 cm) located at the back of the neck, and multiple intervals in the tumor can be identified. (B) The posterior horn of the right and left lateral ventricles were 1.18 cm and 1.19 cm, respectively. (C) Ultrasound of fetal chest showed a large pleural effusion (white arrow) and demonstrated severe fetal subcutaneous edema with low unevenness echo (blue arrow).

Figure 4

A hemangioma at 26 weeks of gestational age. (A) Prenatal ultrasound exhibited a hyperechogenic lesion (4.16 × 3.21 × 1.24 cm) located at the left of the neck. (B) Color Doppler ultrasound of blood flow showed rich blood flow signals inside the mass.

Figure 5

A congenital epulis at 34 weeks of gestational age. (A–B) On prenatal ultrasonic imaging, echography imaging revealed a low uneven echo mass (T) in the oral cavity that is lobulated with clear boundaries, an irregular shape. (C) Color Doppler ultrasound of blood flow showed abundant blood flow signals inside the mass, and nuchal cord (NC) was also shown. (D) Three-dimensional ultrasound of fetus, and was outward. (E) On T1WI, the lesion was with isointense signal and the peripheral part displayed a hypointense signal (yellow arrow). (F) On T2-weighted fat suppression image, the fat tissue was not detected while the mass was closely associated with the mandibular tooth bud (green arrow). (G) DWI image showed hyper-intensity in solid lesions of tumor tissues. (H) An image of the newborn.

Figure 6

Two cases of lymphangioma (LM). (A) A case of LM at 26 weeks of gestational age (GA), the curved planar reformation of fast imaging employing steady-state acquisition (FIESTA) image showed high signal intensities of multilocular septum. The airway was filled with amniotic fluid showing a high signal, while the nasopharynx, laryngopharynx, trachea, and left primary bronchi (LPR) and right primary bronchi (RPR) were clearly displayed on level one. (B) For the fetus of LM at 35 weeks of GA, sagittal T2WI exhibited high signal cystic mass protrusions into the thoracic cavity from the right posterior triangle. (C) The coronal FIESTA image was same fetus as panel B, and showed a clear understanding of the relationship and anatomy of the region. RCCA = right common carotid artery, LCCA = left common carotid artery, RSCA = right subclavian artery, LSCA = left subclavian artery, TR = trachea.