Two- and three-dimensional sonography of anomalies of orofacial area in
the first trimester of gestation
As part of the population-based prenatal screening of 900 pregnant women, who underwent 1st trimester screening at the RPMC “Mother and Child” in 2018–2019, an ultrasound scan of the fetal palate was performed to evaluate the effectiveness of new ultrasound markers in detecting orofacial clefts (OFC). Fetal palatal defects were screened at a 2D assessment of bone markers of the palate – the image of the palatal line in the sagittal section, the retronasal triangle in the coronary section, the alveolar arch of the upper jaw in the axial section. If a palate abnormality was detected or suspected in the 2D study, the fetal palate was evaluated using the 3D mode. In 50 pregnant women of the control group, 3D sonography of the fetal palate was performed in the norm. In total, during the gestation period of 10+5–12+5 weeks, 10 cases of OFC were detected, of which 1 case was a median lip/palate cleft (LPC), 6 — bilateral LPC, 1 — left-sided LPC, 1 — unspecified LPC, 1 — PC. Visualization of 2D ultrasound markers was possible in 9 cases of palate anomalies, 3D assessment worked out in all 10 cases. In all identified OFC cases, cytogenetic and/or pathomorphological studies were performed.