Prenatal Diagnosis of Cleft Lip + Palate

Introduction: Orofacial clefts constitute one of the more common congenital structural anomalies, with a prevalence of 1:500- 1:1000 live births. Conventionally, 2D ultrasound has been the modality utilized for prenatal diagnosis; however, with the advent of technological advances, 3D and 4D sonography has allowed for easier identification of clefting defects. Clinically, it is imperative to differentiate between the myriad types of orofacial clefts, due to the implications on fetal prognosis. We present a case of a prenatally diagnosed cleft lip+ palate, in an otherwise uncomplicated pregnancy.

Case Report: 30 year old G6P3023 presented as a late registrant for a fetal anatomical sonographic evaluation at 29^3/7 weeks of pregnancy. The patient had a family history of autism; NIPT testing was negative for aneuploidy. The 2D and subsequent 3D ultrasound revealed fetal cleft lip and palate—no other anomalies were appreciated ([Fig. 1]).

Discussion: Cleft lip and palate are craniofacial malformations that may occur together or separated; they can be isolated findings, or part of a genetic syndrome. 2D and 3D ultrasonography have a high positive predictive value for the diagnosis of orofacial defects from the first trimester of pregnancy. While a 2D sonogram can identify the defect in a coronal and axial plane, the 3D survey can improve the identification of associated findings such as premaxillary protrusion and the evaluation of the maxillary tooth-bearing alveolar ridge. The neonatal associated morbidity falls along a spectrum, pending the degree of malformation. The neonate is subject to a multitude of adverse manifestations, which may extend into childhood- inclusive of respiratory distress, feeding issues and middle ear infections. Elective surgery in early neonatal period is usually curative. Utilization of a multidisciplinary team approach is the standard of care and the foundation of management for patients so diagnosed with orofacial anomalies. Engagement with a multitude of specialists inclusive of Geneticists, Maternal Fetal Medicine Specialists, Neonatologists, Psychologists, Pediatric Oromaxillofacial Surgeons, and Social Services–with delivery in a tertiary center–are paramount to ensure a successful perinatal outcome.

Fig. 1 Fetal face via 3D ultrasonography with evidence of cleft lip and palate.

No conflict of interest has been declared by the author(s).

Publication History

Article published online:
17 September 2021