Prenatal diagnosis of isolated lateral facial cleft by ultrasonography and three-dimensional printing: A case report

Abstract

BACKGROUND Lateral facial clefts are atypical with a low incidence in the facial cleft spectrum. With the development of ultrasonography (US) prenatal screening, such facial malformations can be detected and diagnosed prenatally rather than at birth. Although three-dimensional US (3DUS) can render the fetus' face via 3D reconstruction, the 3D images are displayed on two-dimensional screens without field depth, which impedes the understanding of untrained individuals. In contrast, a 3D-printed model of the fetus' face helps both parents and doctors develop a more comprehensive understanding of the facial malformation by creating more interactive aspects. Herein, we present an isolated lateral facial cleft case that was diagnosed via US combined with a 3D-printed model. CASE SUMMARY A 31-year-old G2P1 patient presented for routine prenatal screening at the 22 nd wk of gestation. The coronal nostril-lip section of two-dimensional US (2DUS) demonstrated that the fetus' bilateral oral commissures were asymmetrical, and left oral commissure was abnormally wide. The left oblique-coronal section showed a cleft at the left oral commissure which extended to the left cheek. The results of 3DUS confirmed the cleft. Furthermore, we created a model of the fetal face using 3D printing technology, which clearly presented facial malformations. The fetus was diagnosed with a left lateral facial cleft, which was categorized as a No. 7 facial cleft according to the Tessier facial cleft classification. The parents terminated the pregnancy at the 24 th wk of gestation after parental counseling. CONCLUSION In the diagnostic course of the current case, in addition to the traditional application of 2D and 3DUS, we created a 3D-printed model of the fetus, which enhanced diagnostic evidence, benefited the education of junior doctors, improved parental counseling, and had the potential to guide surgical planning.

Prenatal Diagnosis of a Case of Asyndromic Tessier Class-7 Bilateral Complete Transverse Facial Cleft: Case Report with Review of Literature

“…15 16 The mechanism of cleft formation has been explained by several pathogenetic pathways related to impaired migration of ectomesenchymal cells, palatal shelf disorders, vascular causes attributable to embryonic hematoma formation from disruption of the stapedial artery stem, and other disruptive factors such as amniotic bands. 7 It is also claimed to be a postmerging anomaly due to varied clinical expression. 17 In a study by Stelnicki et al, a lamb uterus model was used to demonstrate cell migration impediment, ischemia, and cell apoptosis attributed to disruptive restrictive forces that resulted in the development of lateral facial cleft.…”

“…The etiopathogenesis of the lateral facial cleft is complex and multifactorial. 7 The embryologic origin of the lateral facial cleft can be traced to the 7th embryological week when the maxillary and the mandibular processes of the first and second branchial arches fail to fuse. 15 16 The mechanism of cleft formation has been explained by several pathogenetic pathways related to impaired migration of ectomesenchymal cells, palatal shelf disorders, vascular causes attributable to embryonic hematoma formation from disruption of the stapedial artery stem, and other disruptive factors such as amniotic bands.…”

“…Very few cases with prenatal diagnosis have been reported in the literature pertaining to lateral facial clefts. [4][5][6][7][8][9][10][11][12][13][14] We report a case of isolated bilateral complete transverse facial cleft diagnosed prenatally at 22 weeks of gestation with the pertinent details of the two-dimensional (2D) and three-dimensional (3D) ultrasound examination and genetic workup. A review of the literature of the previously reported cases is provided for a better understanding of the lateral clefts.…”

Síndrome de Goldenhar. Reporte de un caso

“…La isquemia conduce a alteraciones del desarrollo unilateral que produce deformidades labiales/palatinas, auriculares y oculares (5). Además, pueden asociarse anomalías como fusión vertebral, cervical y torácica, tetralogía de Fallot, comunicación interventricular, fístula traqueo-esofágica, atresia esofágica y malformaciones pulmonares de grado variable (desde la segmentación anormal hasta hipoplasia o aplasia unilateral) (6). Otras posibles hipótesis causales incluyen la teoría de la interrupción vascular y formación de hematomas de Poswillo, neurocristopatía de Opitz y expresión deficiente de los genes homeobox Msx, que en modelos animales produce alteraciones de los tejidos derivados del primer arco branquial (7,8).…”