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Published on: September 19, 2015
Understanding the distinction between cleft lip and cleft palate: a critical step for successful prenatal detection
1Division of Maternal-Fetal Medicine & Obstetrics, Department of Obstetrics and Gynecology, School of Medicine, Stanford University, Stanford, California, USA.
Insights
Prenatal diagnosis of cleft palate (CP) can be improved using 2D ultrasound markers. Recognizing CP
Area of Science:
- Medical Imaging
- Prenatal Diagnosis
- Congenital Anomalies
Background:
- Orofacial clefts (OCs) are common congenital anomalies.
- Prenatal detection of isolated cleft palate (CP) is challenging.
- CP is linked to increased risks of structural anomalies, recurrence, and genetic issues.
Approach:
- Review of embryological development of the secondary palate (6th-10th week).
- Analysis of various 2D ultrasonographic markers for OCs across trimesters.
- Discussion of marker techniques, evidence, and limitations.
Key Points:
- 2D sonographic markers can optimize prenatal OC detection.
- Specific markers include maxillary gap, frontal space, and retronasal triangle.
- Association of CP with retrognathia/micrognathia is a key diagnostic clue.
Conclusions:
- Optimizing prenatal diagnosis of OCs, particularly CP, is feasible.
- Improved detection facilitates better counseling and genetic testing.
- Utilizing specific 2D ultrasound markers enhances diagnostic accuracy for CP.
Purpose Of Review:
Orofacial clefts (OCs) are among the most common congenital anomalies, however, prenatal detection of cleft palate without cleft lip (CP) remains low. CP is associated with a higher risk of associated structural anomalies, recurrence risk and genetic aberrations. There is opportunity to optimize prenatal diagnosis, counseling and diagnostic genetic testing for OCs.
Recent Findings:
Improving prenatal diagnosis of CP requires understanding that embryologically, the secondary palate develops from the 6th to the 10th week and fuses with the primary palate by the 12th week. Multiple first, second and third trimester 2D ultrasonographic markers for OCs have been described including the maxillary gap, frontal space, maxilla-nasion-mandible angle, retronasal triangle, palatino-maxillary diameter, equal sign, nonvisualization or gap in the soft to hard palate interface and loss of the superimposed line. We discuss the technique, evidence and limitations of each.
Summary:
Prenatal detection of OC can be optimized by employing 2D sonographic markers. Prenatal detection of CP may be improved by recognizing its high association with retrognathia/micrognathia.
