Prenatal ultrasound diagnosis of fetal cervicofacial lymphangioma: a case report

Introduction

Lymphangioma is a benign congenital malformation of the lymphatic system, accounting for approximately 5–6% (1) of benign lesions in children and adolescents, and most commonly occurs in the cervicofacial region. Lymphangiomas occurring in the cervicofacial region can be classified into four types based on their two-dimensional ultrasonographic imaging features, with type IV (cystic-solid, solid component ≥30%) being relatively rare. The ultrasonographic features of this type differ from those of conventional lymphangioma: the lesion presents as a mixed cystic-solid echogenicity with a relatively high proportion of solid components and inhomogeneous internal echoes. Color Doppler flow imaging (CDFI) reveals punctate flow signals within the solid areas. Such atypical ultrasonographic manifestations may be associated with tumor infiltration into pre-existing tissue architecture and the formation of abundant fibrovascular tissue within the lesion. Although benign, lymphangiomas are characterized by invasive and infiltrative growth patterns, which can lead to compressive symptoms in adjacent tissues and organs. Large cervicofacial lymphangiomas may encircle and compress the trachea and esophagus, potentially causing fetal dysphagia, subsequently leading to polyhydramnios, and in severe cases, resulting in respiratory compromise or even demise. Therefore, prenatal ultrasonography is of paramount importance for the early diagnosis of fetal cervicofacial lymphangioma.

Fetuses with isolated lymphangioma carry a low risk of chromosomal abnormalities. However, studies have reported that up to 2% (2) of affected fetuses may be associated with chromosomal anomalies or other malformations. Therefore, it is recommended that a detailed ultrasound examination be performed to exclude structural malformations, and karyotype analysis of amniotic fluid or cord blood is advised for fetuses diagnosed with lymphangioma.

Prenatal case reports on lymphangioma are relatively abundant; however, studies on the combined application of two-dimensional and three-dimensional ultrasound in the prenatal diagnosis of type IV fetal cervicofacial lymphangioma remain quite limited. This is particularly noteworthy given the relatively high incidence of lymphangioma during the fetal period. This case report describes a rare case of fetal cervicofacial lymphangioma, in which precise prenatal diagnosis was achieved during the second trimester through combined two-dimensional and three-dimensional ultrasonography, with final confirmation ultimately obtained via pathological and immunohistochemical analysis following pregnancy termination. This case demonstrates the significant value of prenatal ultrasound in guiding prenatal counseling and clinical decision-making. We present this article in accordance with the CARE reporting checklist (available at https://acr.amegroups.com/article/view/10.21037/acr-2025-352/rc).

Case presentation

A pregnant woman, 27 years old, G1P0, and had been healthy without special medical history, with no chronic diseases or history of adverse pregnancy outcomes, and her family history showed no genetic or congenital disease-related records. Laboratory tests showed no obvious abnormalities. The measurement of fetal nuchal translucency (NT) thickness at 12 weeks and 3 days of gestation, recorded at 2.5 mm, indicates a low risk for Down syndrome screening. Ultrasound examination conducted at 20 weeks of gestation in our hospital revealed a cystic-solid mixed echogenic mass measuring 56 mm × 51 mm × 41 mm located on the neck and face of the fetus, the mass exhibited well-defined boundaries and a regular contour. Superior boundary located at the right eye, posterior to the ear, extending downward over the neck, and medially adjacent to the floor of the mouth as well as the submandibular region. The cystic component exhibited poor sound transmission, appearing diffusely hypoechoic with floating characteristics and multiple linear hyperechoic bands of varying thickness. The solid area was moderately hyperechoic with non-uniform internal echoes. CDFI revealed punctate blood flow signals (Figure 1A,1B).

Figure 1 Fetal cervicofacial lymphangioma. (A) Two-dimensional sagittal view demonstrates a cystic mass in the cervicofacial region with poor sound transmission (arrow). (B) Transverse view shows a cystic-solid mass, with punctate flow signals visible within the solid area (arrow). (C) Three-dimensional ultrasonography demonstrates mass-induced deformation of the face and neck, which correlates with the post-termination specimen (arrow). (D) Post-termination specimen (arrow).

Three-dimensional ultrasound surface imaging demonstrated that the mass protruded outwardly, resulting in deformation and elevation of both facial and neck contours (Figure 1C). Ultrasound diagnosis: fetal cervical and facial mass; differential considerations include lymphangioma (type IV) or teratoma.

The fetal chromosome karyotype was determined to be 46XX. The pregnant women and their families received prenatal diagnosis and genetic counseling, including the nature of cervicofacial lymphangioma, secondary symptoms, whether it was associated with other malformations, possible complications during pregnancy, the possibility of postpartum surgical intervention, survival treatment and prognosis. After understanding this information, they decided to terminate the pregnancy and performed a mid-term induction of labor.

Gross examination of the induced labor revealed skin hyperpigmentation with a red wine coloration, particularly prominent on the head and face. A tumor measuring 60 mm × 55 mm × 43 mm was identified on the right side of the face, extending behind the ear into the neck region. On palpation, it exhibited a soft and tense consistency (Figure 1D). Pathological examination indicated that the deformed dilated lymphatic vessels contained a significant amount of lymph fluid along with lymphocytes (with a lymphocyte proportion exceeding 90%). The cystic cavity was lined by a single layer of flat endothelial cells. Immunohistochemical staining results were as follows: D2-40 (+), CD31 (+), Ki-67 (+1%), and GLUT-1 (−). The pathological diagnosis concluded that this cervicofacial mass is consistent with lymphangioma.

All procedures performed in this study were in accordance with the Declaration of Helsinki and its subsequent amendments. This study was approved by the Institutional Review Board of Gansu Provincial Maternity and Child Care Hospital (No. 2023GSFY65). Informed consent was obtained from the patient for the publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Discussion

We present a case of type IV cervical and facial lymphangioma. Through the integration of two-dimensional and three-dimensional ultrasound imaging an accurate prenatal diagnosis was achieved, which was subsequently confirmed by post-induction pathological and immunohistochemical analyses.

Clinical importance of prenatal diagnosis

Lymphangioma, also known as lymphatic malformation, is a benign lesion resulting from aberrant embryonic development of the lymphatic system, which initiates around the sixth week of gestation during the formation of the primitive lymphatic sacs. It can involve various sites throughout the fetal body, with the neck and axilla being the most commonly affected locations. The pathogenesis is closely linked to developmental anomalies of the lymphatic sacs. Approximately 30–50% of fetal cervicofacial lymphangiomas are associated with chromosomal abnormalities, such as Down syndrome and Turner syndrome.

The chromosomal karyotype of this fetus was 46XX, and although no obvious numerical abnormalities were detected, this finding still highlights the complexity of the genetic background associated with this condition. Ultrasonography remains the preferred method for prenatal diagnosis of cervicofacial lymphatic malformations. Typical two-dimensional ultrasound findings include unilocular or multilocular irregular cystic masses, devoid of solid components and blood flow signals. Based on ultrasonographic characteristics, cervicofacial lymphatic malformations can be classified into four types (3): Type I (multilocular cystic); Type II (primarily cystic with no more than three septa); Type III (simple cystic without septation); and Type IV (cystic-solid containing at least 30% solid component).

The lesion in this fetus was classified as type IV, with ultrasonographic findings indicating inhomogeneous internal echogenicity and a high proportion of solid components. Due to its infiltrative growth pattern and the relatively loose anatomical structure of the cervicofacial region, the mass was typically large in volume and exhibited high tension, resulting in a significant mass effect that compressed the surrounding tissues and organs. Previous literature has demonstrated that (4) when the maximum diameter of cervicofacial lymphatic malformations exceeds 50 mm, they may induce corresponding indirect symptoms. In this instance, the maximum diameter of the fetal mass measures 60 mm which has resulted in deformation of both facial and neck structures.

If the pregnancy continues to progress, it may lead to compression of the trachea, esophagus, peripheral nerves vessels, and other critical structures as gestational age increases. This can result in fetal intrauterine asphyxia and swallowing dysfunction. Additionally, respiratory distress may occur after birth due to mass effect, necessitating emergency airway intervention. Beyond local mass effects, this condition is frequently associated with multi-system malformations such as cardiovascular anomalies (ventricular septal defect), limb deformities (polydactyly or syndactyly), and central nervous system abnormalities. Some cases may also present complications like fetal edema and polyhydramnios, which significantly elevate perinatal mortality rates. Consequently, the detection of fetal cervicofacial lymphatic malformations should not be viewed as an isolated imaging finding; rather, potential genetic abnormalities and structural malformations across multiple systems must also be considered to provide a comprehensive basis for clinical intervention. The timeliness and accuracy of prenatal diagnosis are crucial for effective management of fetal cervicofacial lymphatic malformations. As the preferred imaging modality for prenatal screening, ultrasound can clearly delineate the location, size, characteristics, and vascular supply of lesions during the second trimester of pregnancy. For instance, in this case study, ultrasound findings such as cystic-solid mixed echoes, along with linear hyperechoic bands, and punctate blood flow signals were highly consistent with the ultrasound characteristics typical of type IV lymphatic malformations. Three-dimensional ultrasound surface imaging provides an intuitive representation of how the mass affects surrounding contours—offering key imaging evidence for initial diagnosis.

As an important adjunct to two-dimensional ultrasonography, three-dimensional ultrasonography, with its stereoscopic volumetric imaging, significantly enhanced the diagnostic efficacy and confidence in this case. Its clinical value is primarily demonstrated in the following three aspects. First, three-dimensional ultrasonography intuitively demonstrated the mass-induced deformation of the facial and cervical contour, which showed a high degree of concordance with the postoperative gross specimen, thereby providing visual evidence for assessing the mass effect. Second, multiplanar reconstruction clearly delineated the spatial relationship between the mass and critical structures such as the floor of the mouth, submandibular region, and postauricular area, precisely defining the extent of infiltration. This provided important references for assessing the severity of the condition and the prognosis. Finally, three-dimensional volumetric imaging facilitates clinician-patient communication, aids patients in comprehending the condition, and supports subsequent clinical decision-making. Furthermore, karyotype analysis and genetic testing serve as important adjuncts in prenatal diagnosis. In this case, common chromosomal abnormalities were excluded through karyotype analysis, which offers valuable insights for genetic counseling.

In summary, the management of fetal cervicofacial lymphatic malformation requires an individualized plan based on a combination of ultrasonographic features, chromosomal findings, and patient preferences. For fetuses presenting with small lesions, normal chromosomal results, and no complications, close monitoring may be conducted until postnatal intervention is warranted. Conversely, in cases involving large lesions that could potentially impact the quality of life for the fetus, prenatal diagnosis offers a robust foundation for decision-making by the pregnant woman and her family. This approach helps mitigate the adverse effects associated with negative pregnancy outcomes on both mother and child. Furthermore, it underscores the fundamental value of prenatal diagnosis in enhancing perinatal outcomes and promoting eugenics.

Sonographic and pathological features

In this case, a definitive correlation exists between the ultrasonographic signs and pathological characteristics. The pathological basis for these imaging findings is attributed to cystic dilatation, variations in the nature of the intralesional contents, and differences in stromal composition, all resulting from the lymphatic malformation. Specifically, pathological examination revealed that the lesion was composed of “abnormally dilated lymphatic vessels”. The cystic spaces corresponded to the cystic components observed on ultrasound images, while the fibrous connective tissue septa, proliferative lymphoid tissue, and vascular elements collectively gave rise to the “moderately hyperechoic solid areas”. This phenomenon reflects lymphatic developmental disorder accompanied by fibrous stromal hyperplasia, which is consistent with the low proliferative activity indicated by the pathological Ki-67 (+1%). Ultrasonographic findings of “poor sound transmission in the cystic areas with hypoechoic floating particles within” originate from the cystic spaces being filled with “abundant lymphatic fluid and lymphocytes”. Punctate flow signals correspond to small arterial vessels within the septa and solid areas. Immunohistochemical staining for CD31 (+) confirmed the presence of vascular endothelial components, while D2-40 (+) indicated the lymphatic origin of the cystic structure. Additionally, GLUT-1 (−) further excluded the possibility of hemangioma.

Differential diagnosis

(I) Teratoma: a germ cell tumor originating from the midline of the body, composed of multiple tissue types such as fat, hair, and bone. Benign teratomas typically present as cystic lesions and often exhibit characteristic signs such as punctate or clumpy calcifications, the dough sign, or a fat-fluid level; malignant teratomas are usually highly vascularized and predominantly solid. (II) Hemangioma: composed of proliferative vascular endothelial cells. On ultrasound, it typically appears as a well-defined, homogeneous, hyperechoic solid mass; in rare cases, it may present as hypoechoic. Cystic components are uncommon, and CDFI often reveals a “flame-like pattern” of red and blue flow signals.

Comparison with literature and outcomes

In this case, due to the large size of the mass the fetus exhibited a significant space-occupying effect. It was considered that continuation of the pregnancy could lead to compression of the trachea and esophagus, potentially resulting in fetal intrauterine asphyxia and impaired swallowing function (4). If secondary complications such as hydrops fetalis or polyhydramnios develop, both maternal and fetal outcomes may be adversely affected. Therefore, the decision to proceed with early induction of labor underscores the critical clinical value of prenatal diagnostic evaluation. In contrast to previous reports, where large lesions located in other regions—such as the neck, axilla, and extremities—have allowed for successful vaginal delivery followed by surgical management with favorable long-term outcomes.

In this case, the parents opted for termination of pregnancy. This decision was not only related to the specific cervicofacial location of the lesion and the complex architecture of the type IV lymphangioma, but was also closely associated with the pregnant woman’s personal preferences.

Limitations

As a single case report, the generalizability of our experience is limited. The child had a normal chromosome karyotype, induced labor at a young gestational age, and no serious complications occurred. All the above conditions need to be further confirmed by multiple sample verification.

The child did not undergo magnetic resonance imaging (MRI).

Conclusions

Ultrasonography plays a pivotal role in the clinical management of fetal cervicofacial lymphangioma. As the primary imaging modality for prenatal screening, it enables clear visualization of the characteristic sonographic features of these lesions. When combined with three-dimensional ultrasound surface rendering techniques, it provides essential imaging evidence for initial diagnosis. Consequently, the management strategy for fetal cervicofacial lymphangioma should be individualized, taking into account ultrasonographic findings, chromosomal analysis results, and the mother’s informed preferences.

Acknowledgments

The authors thank the family for their consent to present this case. We also acknowledge the contributions of the multidisciplinary team involved in the patient’s care.

Footnote

Reporting Checklist: The authors have completed the CARE reporting checklist. Available at https://acr.amegroups.com/article/view/10.21037/acr-2025-352/rc

Peer Review File: Available at https://acr.amegroups.com/article/view/10.21037/acr-2025-352/prf

Funding: This work was supported by Natural Science Foundation of Gansu Province (No. 23JRRA1383).

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://acr.amegroups.com/article/view/10.21037/acr-2025-352/coif). The authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the Declaration of Helsinki and its subsequent amendments. This study was approved by the Institutional Review Board of Gansu Provincial Maternity and Child Care Hospital (No. 2023GSFY65). Informed consent was obtained from the patient for the publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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