Modern Practice for Accurate Prenatal Detection of Cleft Lip & Cleft Palate; Literature Review

Author(s): Daphne Cauchi, Joseph Briffa

Introduction: Orofacial clefts, including cleft lip and/or palate are prevalent congenital anomalies forming between the 4th and 12th week of gestation which show varying incidences worldwide. Orofacial clefts can be syndromic or non-syndromic with both environmental and genetic factors increasing the risk of developing these structural defects. Management involves a multidisciplinary team to addresses structural, functional, cosmetic and psychological aspects of these defects which require early and accurate diagnosis during gestation. This literature review aims to identify imaging techniques and modalities including 2D, 3D and MRI to accurately diagnose cleft lip and palate. Method: A qualitative narrative form of literature review was carried out using PubMed, ScienceDirect and Cochrane library. Published articles between January 2010 and March 2024 were reviewed. PRISMA flow chart was used to display selection process. Methodology quality of each study was assessed using the Newcastle-Ottawa scale for cohort studies and QUADAS-2 scale for diagnostic studies. Results: 21 studies met the eligibility criteria to be included in this literature review with 12 studies being diagnostic and 9 observational studies. 17 studies utilized 2D ultrasound with 9 studies comparing 2D ultrasound to 3D ultrasound and 7 studies comparing ultrasound with MRI. Some studies proposed novel techniques using 2D Ultrasound. Overall, studies suggested that the combined use of 2D US with 3D or MRI may improve diagnostic accuracy of detecting orofacial cleft prenatally. Conclusion: 2D ultrasound is the initial imaging modality used for imaging during early gestation however high risk pregnancies require referral to tertiary centres for evaluation suing 3D ultrasound and MRI for accurate diagnosis of orofacial clefts.