An increasing number of pregnancies are presumed being terminated following prenatal detection of orofacial cleft during structural ultrasound.After examining the data and literature on this topic it is concluded that the reported cases are merely incidents. For the interpretation of prenatal detection rates a distinction should be made between isolated orofacial cleft and the frequently occurring associated form of orofacial cleft which is usually characterized by other, often major structural or chromosome anomalies. The ultrasound detection rate of the isolated form is low and varies in the literature between 18 and 56%. Together with all Dutch centres of prenatal medicine a care plan was adopted for the management of prenatally detected orofacial cleft including diagnosis (detailed ultrasound examination and karyotyping), medical support (genetic consultations, plastic surgery and psychosocial counselling) and treatment (obstetric and neonatal management). In the presence of associated major congenital anomalies termination of pregnancy may be considered before the 24th week of pregnancy.
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Hua Xi Kou Qiang Yi Xue Za Zhi
February 2025
State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases & Dept. of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China.
Congenital orofacial cleft, the most common birth defect in the maxillofacial region, exhibits a wide range of prognosis depending on the severity of deformity and underlying etiology. Non-syndromic congenital orofacial clefts typically present with milder deformities and more favorable treatment outcomes, whereas syndromic congenital orofacial clefts often manifest with concomitant organ abnormalities, which pose greater challenges for treatment and result in poorer prognosis. This consensus provides an elaborate classification system for varying degrees of orofacial clefts along with corresponding diagnostic and therapeutic guidelines.
View Article and Find Full Text PDFCleft Palate Craniofac J
January 2025
State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Department of Cleft Lip and Palate, West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan, China.
Objectives: Orofacial cleft (OC) can be classified into syndromic orofacial cleft (SOC) and non-syndromic orofacial cleft (NSOC), depending on whether there are other congenital deformities. Craniosynostosis, the premature closure of cranial sutures, is a common phenotype of SOC resulting in abnormal ossification of skull and brain development disorders. Its correlation with OC offers a promising approach to identify susceptibility genes for NSOC by examining causative genes of SOCs with craniosynostosis.
View Article and Find Full Text PDFMaternal exposures are known to influence the risk of isolated cleft lip with or without cleft palate (CL/P) - a common and highly heritable birth defect with a multifactorial etiology. To identify new CL/P risk loci, we conducted a genome-wide gene-environment interaction (GEI) analysis of CL/P on a sample of 540 cases and 260 controls recruited from the Philippines, incorporating the interaction effects of genetic variants with maternal smoking and vitamin use. As GEI analyses are typically low in power and the results can be difficult to interpret, we used multiple testing frameworks to evaluate potential GEI effects: 1 degree-of-freedom (1df) GxE test, the 3df joint test, and the two-step EDGE approach.
View Article and Find Full Text PDFCleft Palate Craniofac J
January 2025
State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases & West China Hospital of Stomatology, Sichuan University, Chengdu, China.
Objective: Apart from rupture and displacement of muscle fibers, structural defects exist in cleft muscles but have not been adequately investigated. This study aimed to examine the histological and molecular features of the cleft muscles.
Design: Orbicularis oris (OO) and tensor fasciae latae (TFL) muscle samples were obtained from patients with cleft lip and alveolar.
Cleft Palate Craniofac J
January 2025
Division of Plastic, Maxillofacial, and Oral Surgery, Department of Surgery, Duke University Health System, Durham, NC, USA.
To evaluate the feasibility of using the National Patient-Centered Clinical Research Network (PCORnet) as a source of electronic health record (EHR) data for cleft outcomes research. Exploratory retrospective analysis of multi-year, administrative and clinical, structured data stored in PCORnet. Academic institution with an ACPA-approved cleft and craniofacial team.
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