Cleft Lip and Cleft Palate: Time to Include Orofacial Ultrasound Markers Into the First-Trimester Anatomy Scan?

Orofacial clefts are one of the most common congenital malformations. The prenatal diagnosis is often made in the second trimester of pregnancy as result of ultrasound examination of the midface on coronal and axial planes. However, the diagnosis in the first trimester is elusive due to the small size of the facial structures and technical limitations present at this early gestational age. In this Commentary, we suggest the routine systematic ultrasound identification of easy-to-obtain landmarks to improve the detection of cleft lip and cleft palate in the first trimester. These include, but are not limited to, visualization of the primary palate using the coronal plane of the face looking for disruption at the base of the retronasal triangle, and visualization of the palate using the sagittal plane looking for the maxillary gap and loss of the superimposed line. Early prenatal detection of orofacial clefts would allow a more detailed search for associated chromosomal anomalies or genetic syndromes.