Stability between single and segmental maxillary osteotomies in bimaxillary surgery for cleft-associated class III deformity: a CBCT study.

OBJECTIVE: Segmental Le Fort I osteotomy through the cleft is a common strategy to narrow the alveolar cleft in adults. This study compared skeletal stability between single and segmental Le Fort I osteotomies in patients with unilateral cleft lip and palate (UCLP). MATERIALS AND METHODS: This retrospective analysis examined 45 adults with complete UCLP-associated class III deformities who underwent bimaxillary surgery with either single (n = 30) or segmental (n = 15) Le Fort I advancement. Cone beam computed tomography (CBCT) scans of the facial skeleton were acquired before surgery, 1-week postsurgery, and at follow-up. Measures of landmarks from the CBCT images for the two treatment groups were compared for translation (left/right, posterior/anterior, superior/inferior) and rotation (yaw, roll, pitch). RESULTS: Postsurgery, the downward movement of the maxilla was larger in the segmental group than the single group. At follow-up, the maxilla moved backward in both groups, and upward in the segmental group. The mandible moved forward and upward and rotated upward in both groups. The amount of upward movement and rotation was larger in the segmental group than the single group. CONCLUSIONS: Two years after bimaxillary surgery in patients with UCLP-associated class III deformity, greater relapse was found after segmental Le Fort I osteotomies in vertical translation of the maxilla and mandible, and pitch rotation of the mandible compared with single Le Fort I osteotomies. CLINICAL RELEVANCE: The vertical relapse of the maxilla was larger after segmental Le Fort I advancement compared with single Le Fort I advancement in clefts.

Comparison of craniomaxillofacial morphology in children with unilateral cleft lip and palate treated with/without presurgical nasoalveolar molding - a retrospective study with a mean age of 5 years.

OBJECTIVES: To three-dimensionally assess differences in craniomaxillofacial skeletal development in patients with operated unilateral cleft lip and palate (UCLP) treated with/without presurgical nasoalveolar molding (PNAM) with a mean age of 5 years. MATERIALS AND METHODS: Cone-beam CT radiographs of 30 patients with UCLP who had undergone PNAM and 34 patients with UCLP who did not receive PNAM were analyzed. The data were stored in DICOM file format and were imported into the Dolphin Imaging program for 3D image reconstruction and landmark identification. 33 landmarks, 17 linear and three angular variables representing craniofacial morphology were analyzed and compared by using the Mann-Whitney U tests. RESULTS: The vast majority of linear variables and 3D coordinates of landmark points reflecting craniofacial skeletal symmetry were not significantly different between the two groups. In terms of craniofacial skeletal development, the PNAM group had a significantly smaller anterior nasal spine offset in the midsagittal plane and a greater maxillary length compared to the non-PNAM group. CONCLUSIONS: Evaluations performed in early childhood showed that treatment with/without PNAM in the neonatal period was not a major factor influencing craniomaxillofacial hard tissue development in patients with UCLP; moreover, PNAM treatment showed significant correction of skeletal deviation at the base of the nose. CLINICAL RELEVANCE: Follow-up in early childhood has shown that PNAM treatment administered during the neonatal stage does not impede maxillary development and has benefits in correcting nasal floor deviation. It is a viable option for improving nasal deformity in children with unilateral cleft lip and palate.

Determination of safety margin of nasal septum osteotomy for sphenoid sinus in cleft lip and palate patients.

BACKGROUND: Nasal septum osteotomy is used for separating the nasal septum and maxilla during a Le Fort I osteotomy. If this osteotomy is applied too high or is tilted into the nasal cavity, the sphenoid sinus and various adjacent vital structures may be damaged, and serious bleeding, neurological complications, blindness or even death may occur. The aim of this study is to determine the safety margin of the nasal septum osteotomy for sphenoid sinus during the Le Fort I surgery in cleft lip and palate (CLP) patients. METHODS: Twenty cleft lip and palate (the CLP group) and 20 healthy individuals (the control group) were included in this study. Three values (two lines and an angle) were measured by cone beam computed tomography (CBCT). The first line is the line passing through the junction of the spina nasalis anterior point and the lower point of the perpendicular lamina of the palatine bone. The undersired line is the line passing through the junction of the spina nasalis anterior point and the lower anterior border of the base of the sphenoid sinus. The osteotomy angle is the angle between these two lines. RESULTS: In the control group; a surgical line of 44.11-61.14 mm (mean 51.91 ± 4.32), an undesired line of 52.48-69.58 mm (mean 59.14 ± 5.08) and an angle of 18.22-27.270 (mean 22.66 ± 2.55) were found, while in the CLP group, a surgical line of 34.53-51.16 mm (mean 43.38 ± 4.79), an undesired line of 46.86-61.35 mm (mean 55.02 ± 3.24) and an angle of 17.60-28.810 (mean 22.60 ± 2.81) were found. CONCLUSIONS: Although the angle to the sphenoid sinus was not significantly affected by CLP, careful planning and consideration of these anatomical differences are crucial to prevent complications and ensure the safety of Le Fort I surgery in CLP patients. Further research with larger sample sizes and subgroup analysis of unilateral and bilateral CLP cases is needed to improve our understanding of these anatomical variations and improve surgical approaches to individuals with CLP undergoing orthognathic procedures.

Sirenomelia or mermaid syndrome with a cleft lip in a Tanzanian newborn: a case report.

BACKGROUND: Sirenomelia or sirenomelia sequence, also known as mermaid syndrome, is a rare congenital anomaly involving the caudal region of the body. The syndrome is characterized by partial or complete fusion of lower extremities, renal agenesis, absent urinary tract, ambiguous external genitalia, imperforate anus, and single umbilical artery. Sirenomelia is often associated with several visceral congenital malformations, rendering it invariably incompatible with extrauterine life. CASE PRESENTATION: We present the case of 22-year-old Black African woman who delivered a term newborn by caesarean section at a gestation age of 37 weeks due to obstructed labor with fetal distress. The newborn was a fresh stillbirth weighing 2100 g and had fusion of the lower extremities, a single upper limb, ambiguous genitalia, imperforate anus, and a cleft lip. The mother had made only two prenatal visits, at which she was found to be normotensive and normoglycemic. She was not screened for routine fetomaternal infections and missed supplementation for folic acid during the critical first trimester. She did not undergo any obstetric ultrasonography. The parents of the newborn were not close relatives and there was no family history of consanguinity. Further genetic testing was not performed due to lack of laboratory capacity, and post mortem examination was not permitted due to cultural taboo and restrictions relating to handling of deceased newborns. CONCLUSION: Sirenomelia is a rare congenital malformation with very poor prognosis. Specific interventions during pre-conception and early prenatal care are critical in the prevention of specific congenital anomalies. Early obstetric ultrasonography is invaluable for diagnosis of sirenomelia as well as counseling for possible termination of pregnancy.

Biomechanical behavior of three maxillary expanders in cleft lip and palate: a finite element study.

This study evaluated the stress distribution in the dentoalveolar and palatal bone structures during maxillary expansion in a 17-year-old male patient with bilateral cleft lip and palate (BCLP) using expanders with dental (HYRAX) and skeletal anchorage (MARPE). For the generation of the specific finite element models, cone-beam computed tomography was used, and the DICOM files were exported to Mimics 3-Matic (Materialise) and Patran (MSC Software) software. Three specific three-dimensional models were generated: A) HYRAX: conventional four-banded hyrax screw (9 mm); B) MARPE-DS: 3 miniscrews (1.8 mm diameter - 5.4 mm length) and four-banded dental anchorage; and C) MARPE-NoDS: 3 miniscrews without dental anchorage. Maxillary expansion was simulated by activating the expanders transversely 1 mm on the "X" axis. HYRAX resulted in higher levels of deformation predominantly in the dentoalveolar region. MARPE-DS showed stress in the dentoalveolar region and mainly in the center of the palatal region, at approximately 4,000 µÎµ. MARPE-NoDS exhibited evident stress only in the palatal region. High stress levels in the root anchoring teeth were observed for HYRAX and MARPE-DS. In contrast, MARPE-NoDS cause stress on the tooth structure. The stress distribution from the expanders used in the BLCP showed asymmetric expansive behavior. During the initial activation phase of expansion, the HYRAX and MARPE-DS models produced similarly high strain at the dentoalveolar structures and upper posterior teeth displacement. The MARPE-NoDS model showed restricted strain on the palate.

Dental and skeletal maturation of Chinese male children with unilateral cleft lip and palate.

The aim of this study was to determine whether the relationship between dental age (DA), cervical stage (CS) and chronological age (CA) in Chinese male children with unilateral cleft lip and palate (UCLP) is similar to that of children without clefts. Panoramic and cephalometric radiographs of 105 male UCLP patients, aged from 8 to 16 years, were collected and compared to 210 age-matched healthy control males. The Demirjian and cervical vertebral maturation (CVM) methods were used to visually examine the radiographs and Spearman's correlation analysis was used to identify differences between the two groups with regards to CS, DA and CA. There was a significant positive correlation between DA and CA in both groups and the mean CA-DA difference was significantly higher in children with UCLP when compared to controls (0.319 vs. 0.003, p < 0.05). A significant delay in tooth development was detected in UCLP children from 10 to 12 years-of-age. Both the UCLP and control groups showed high correlations between CS and DA. Calcification stage D appeared only before CS3; however, from CS5 to 6, all teeth have almost completed their maturation phase. Chinese male UCLP patients are likely to experience delayed tooth development compared to healthy controls, especially during the fast-growing period. Evaluating the stages of tooth mineralization could represent a rapid method to assess growth potential.

3D evaluation of the maxillary sinus volumes in patients with bilateral cleft lip and palate.

One of the most common congenital anomalies of the head and neck region is a cleft lip and palate. This retrospective case-control research aimed to compare the maxillary sinus volumes in individuals with bilateral cleft lip and palate (BCLP) to a non-cleft control group. The study comprised 72 participants, including 36 patients with BCLP and 36 gender and age-matched control subjects. All topographies were obtained utilizing Cone Beam Computed Tomography (CBCT) for diagnostic purposes, and 3D Dolphin software was utilized for sinus segmentation. Volumetric measurements were taken in cubic millimeters. No significant differences were found between the sex and age distributions of both groups. Additionally, there was no statistically significant difference observed between the BCLP group and the control group on the right and left sides (p > 0.05). However, the mean maxillary sinus volumes of BCLP patients (8014.26 ± 2841.03 mm3) were significantly lower than those of the healthy control group (11,085.21 ± 3146.12 mm3) (p < 0.05). The findings of this study suggest that clinicians should be aware of the lower maxillary sinus volumes in BCLP patients when planning surgical interventions. The utilization of CBCT and sinus segmentation allowed for precise measurement of maxillary sinus volumes, contributing to the existing literature on anatomical variations in BCLP patients.

Congenital midline upper lip sinus in an infant.

Congenital lip sinus is a rare entity with upper lip sinus being rarer than the lower lip sinus. It can be an isolated entity or associated with cleft lip, palate or Van der Woude syndrome. Syndromic association requires proper evaluation and aggressive surgical treatment. Preoperative delineation of the sinus tract with ultrasound sonography or MRI is mandatory. Simple excision is sufficient in cases of isolated sinuses. In this article, we report an infant with upper lip sinus managed successfully with simple excision and reviewed the literature.

Quantitative assessment of cleft volume and evaluation of cleft's impact on adjacent anatomical structures using CBCT imaging.

OBJECTIVES: To determine pre-operative cleft volume and evaluate cleft´s impact on surrounding anatomical structures in children and adolescents with orofacial clefts using cone bean computed tomography (CBCT) imaging. METHODS: The present retrospective study retrieved CBCT examinations of 68 patients from a previous study. The examinations had been exposed either before (n = 53) or after (n = 15) alveolar bone grafting. Pre-operative volume of cleft was determined, and type and location were evaluated. Morphological changes on the adjacent anatomical structures, including the incisive foramen, the nasal septum and floor, and the inferior turbinate, were assessed. RESULTS: Mean bilateral cleft volume was 0.76 cm3, while mean unilateral cleft volume was 1.08 cm3; the difference was significant (p < 0.001). Variation in cleft volume, however, was large. The incisive foramen was not visible in the majority of cases with bilateral clefts (71%); the difference was significant (p = 0.001). In cases with unilateral clefts, the nasal septum in 87% was curved towards the cleft or graft side. Also, the mean size of the widest part of the inferior turbinate was 8.8 mm on the cleft or graft side and 10.4 mm on the non-cleft side. The difference was significant (p < 0.001). CONCLUSIONS: When required, CBCT is a feasible method for quantitatively illustrating alveolar clefts and their impact on the morphological development of surrounding structures. Variation in cleft volume was large.

Validation and comparison of 2D grading scales and 3D volumetric measurements for outcome assessment of bone-grafted alveolar clefts in children.

BACKGROUND: Several methods have been proposed to assess outcome of bone-grafted alveolar clefts on cone beam computed tomography (CBCT), but so far these methods have not been compared and clinically validated. OBJECTIVES: To validate and compare methods for outcome assessment of bone-grafted clefts with CBCT and provide recommendations for follow-up. METHODS: In this observational follow-up study, two grading scales (Suomalainen; Liu) and the volumetric bone fill (BF) were used to assess the outcome of 23 autogenous bone-grafted unilateral alveolar clefts. The mean age at bone grafting was 9 years. The volumetric BF was assessed in five vertical sections. The bone-grafted cleft outcome was based on a binary coding (success or regraft) on a clinical multidisciplinary expert consensus meeting. Grading scales and volumetric assessment were compared in relation to the bone-grafted cleft outcome (success or regraft). Reliability for the different outcome variables was analyzed with intra-class correlation and by calculating kappa values. LIMITATIONS: The study had a limited sample size. Clinical CBCT acquisitions had a varying tube current and exposure time. RESULTS: Volumetric 3D measurements allowed for outcome assessment of bone-grafted alveolar clefts with high reliability and validity. The two grading scales showed highly reliable outcomes, yet the validity was high for the Suomalainen grading scale but low for the Liu grading scale. CONCLUSIONS: Volumetric 3D measurement as well as the Suomalainen grading can be recommended for outcome assessment of the bone-grafted cleft. Yet, one must always make a patient-specific assessment if there is a need to regraft.

Three-dimensional evaluation of secondary alveolar bone grafting in patients with unilateral cleft lip and palate: A 2-3 year post-operative follow-up.

OBJECTIVES: The present study aims to quantitatively assess secondary alveolar bone graft (SABG) resorption in unilateral cleft lip, alveolus and palate (UCLAP) patients in a 2-3 year longitudinal follow-up setting by using a validated 3D protocol. Furthermore, the potential relation of SABG resorption with maxillary canine position and a number of patient-related factors was investigated. METHODS: UCLAP patients who underwent SABG and had good quality CBCT images at the following timepoints were included in the study: pre-operative (T0), immediate (T1), 6 months (T2) and either 1-2 years (T3) or 2-3 years (T4) post-operative. The final bone grafted region was defined on the T1 scans and refined in the registered T0 scans. The bone graft after resorption was determined by applying threshold-based segmentation on the registered T2, T3 or T4 scans within the segmented bone graft volume. The position of the canines was determined at every timepoint at the cleft and non-cleft side. RESULTS: Forty-five UCLAP patients (mean age 9.0 ± 1.3 years) were included. In the first 6 months after SABG, 43.6% bone resorption was recorded. 2-3 years post-operative, 56% bone resorption was found if the maxillary canine was not yet erupted and 42.7% if it erupted through the graft. The vertical position of the canines was significantly higher on the cleft side at T3. CONCLUSIONS: The present study reports significant SABG resorption over time. However, no correlation was found between SABG resorption and canine position, nor between other patient-related factors.

Mandibular condyle volumes are associated with facial asymmetry in patients with cleft lip and palate: A retrospective cohort study.

This study compares condylar volumetric asymmetry and facial asymmetry in patients with cleft lip and/or palate (CLP) and controls. The mandibular condyle is important to facial growth, but its role in facial asymmetry for those with CLP has not been described. Condylar volumes and mandibular asymmetry were retrospectively calculated using Mimics Version 23.0 (Materialise, Leuven, Belgium) from patients with CLP undergoing computed tomography (CT) imaging and a cohort of controls. A total of 101 participants, 60 with CLP and 41 controls, had mean condylar volumetric asymmetry of 16.4 ± 17.4 % (CLP) and 6.0 ± 4.0 % (controls) (p = 0.0002). Patients with CLP who had clinically significant chin deviation (>4 mm) had more asymmetric condyles than those without significant chin deviation (p = 0.003). The chin deviated toward the smaller condyle in patients with facial asymmetry more often than in patients without facial asymmetry (81 % vs. 62 %, p = 0.033). While controls had some degree of condylar asymmetry, it tended to be milder and not associated with facial asymmetry. There is a greater degree of condylar volumetric asymmetry in patients with CLP compared to individuals in the general population. Clinically significant facial asymmetry in CLP is associated with a higher degree of condylar asymmetry, with the facial midline deviating toward the smaller condyle.

Divergent growth of the transient brain compartments in fetuses with nonsyndromic isolated clefts involving the primary and secondary palate.

Cleft lip/palate is a common orofacial malformation that often leads to speech/language difficulties as well as developmental delays in affected children, despite surgical repair. Our understanding of brain development in these children is limited. This study aimed to analyze prenatal brain development in fetuses with cleft lip/palate and controls. We examined in utero MRIs of 30 controls and 42 cleft lip/palate fetal cases and measured regional brain volumes. Cleft lip/palate was categorized into groups A (cleft lip or alveolus) and B (any combination of clefts involving the primary and secondary palates). Using a repeated-measures regression model with relative brain hemisphere volumes (%), and after adjusting for multiple comparisons, we did not identify significant differences in regional brain growth between group A and controls. Group B clefts had significantly slower weekly cerebellar growth compared with controls. We also observed divergent brain growth in transient brain structures (cortical plate, subplate, ganglionic eminence) within group B clefts, depending on severity (unilateral or bilateral) and defect location (hemisphere ipsilateral or contralateral to the defect). Further research is needed to explore the association between regional fetal brain growth and cleft lip/palate severity, with the potential to inform early neurodevelopmental biomarkers and personalized diagnostics.

Objective and subjective evaluation of the efficacy of trans-sutural distraction osteogenesis: A correlation analysis between computed tomography measurements and FACE-Q scores.

Previous studies on the efficacy of trans-sutural distraction osteogenesis (TSDO) to treat midface hypoplasia caused by cleft lip and palate (CLP) have mainly focused on objective measurements while ignoring the subjective feelings of patients. This study aimed to analyse the changes in and correlation between computed tomography (CT) measurements and FACE-Q scores in patients who underwent TSDO by performing a comprehensive evaluation from both objective and subjective perspectives. This retrospective study included 25 patients with an average age of 10.7 years who had midface hypoplasia caused by CLP and underwent TSDO between August 2018 and December 2022. The average follow-up time was 18.8 ± 7.7 months. Facial morphology and CT measurements, including A-CR, N-A⊥HR, the SNA angle and the L-ZA, indicated significant improvements in midface concavity (all p < 0.0001). All FACE-Q scores (except for facial function) exhibited a significant increase. The ΔA-CR, ΔN-A⊥HR, and ΔSNA angle were strongly correlated with specific aspects of the FACE-Q-Appearance items, including the ΔFACE-Q-Appearance of the cheeks (all p < 0.0001), the ΔFACE-Q-Appearance of the face (all p < 0.0001), the ΔFACE-Q-Appearance of the jaws (all p < 0.01), the ΔSatisfaction with decision (all p < 0.0001) and the ΔSatisfaction with outcome (all p < 0.001). However, the ΔA-CR, ΔN-A⊥HR, and ΔSNA were weakly correlated with other FACE-Q-Health-related quality of life and function items. These findings suggest that both CT findings and FACE-Q scores have their own emphases and advantages. It is necessary to establish an integrated curative effect evaluation model that combines FACE-Q scores with CT measurements to evaluate both the physical health and psychological status of patients.

The evaluation of superior semicircular canal in patients with unilateral cleft lip and palate using CBCT.

OBJECTIVES: The present study aims to evaluate the thickness and radiological patterns of the superior semicircular canal (SSC) in patients with unilateral cleft lip and palate (CL/P). METHODS: Cone beam computed tomography (CBCT) images of the patients were evaluated in axial and Pöschl planes. CBCT images of 84 patients with unilateral CL/P and 168 healthy individual controls were included in the study. Three study groups were established: the CS-CL/P group (cleft side temporal bones of the CL/P patients), NCS-CL/P (non-cleft side temporal bones of the CL/P patients) and the control group. The radiological patterns of SSCs were categorized as dehiscence, papyraceous, normal, pneumatised and thick. The minimum bone thickness of SSC was measured. RESULTS: It was found that the CS-CL/P group had a higher prevalence for SSCD compared to both the NCS-CL/P group and the control group. CS-CL/P group had a higher prevalence of dehiscence type and papyraceous type compared to the control group. The SSC thickness on the CS-CL/P patients was thinner than the NCS-CL/P patients and the control group sides (p = 0.033 and p < 0.001, respectively). CONCLUSIONS: The mean thickness of SSC was found significantly lower in the CS-CL/P group compared to both the NCS-CL/P group and the control group. The elevated prevalence of dehiscence and papyraceous types in the CS-C/LP group compared to the control group implies that the presence of a cleft may be a predisposing factor for these types.

Comparison of Alveolar Bone Grafting Outcomes using CBCT in Individuals with UCLP Based on the Presurgical Orthodontic Treatment Methods.

OBJECTIVE: The purpose is to evaluate outcomes of alveolar bone grafting based on the pre-grafting orthodontic preparation methods. DESIGN: Retrospective analysis of individuals with unilateral cleft lip and palate. SUBJECTS AND SETTINGS: 28 individuals with non-syndromic UCLP from two craniofacial centers, 14 individuals each from XXXX and XXXX. INTERVENTIONS: The alignment group underwent maxillary expansion with incisors alignment while the non-alignment group underwent only maxillary expansion for presurgical orthodontic preparation. METHODS: Initial and post-surgical CBCT scans were compared to observe changes in angulation of the incisor adjacent to the cleft site, alveolar bony root coverage, and bone graft outcomes. RESULTS: In the alignment group, the buccolingual rotation decreased by 32.35 degrees (p = .0002), the anteroposterior inclination increased by 14.01 degrees (p = .0004), and the mesiodistal angulation decreased by 17.88 degrees (p = .0001). Alveolar bony coverage did not change after bone graft in both groups, and no difference was observed between the groups. Chelsea scale showed satisfactory bone graft outcome (category A, C) in 12 cases (85.71%) in the alignment group and 11 cases (78.51%) in the non-alignment group. The volumetric measurement showed the alignment group had better bone fill of 69.85% versus 51.45% in the non-alignment group (p = .0495). CONCLUSIONS: Alveolar bony coverage on the tooth adjacent to cleft sites did not change with alveolar bone grafting surgery in either of the alignment and non-alignment group. Presurgical orthodontic alignment does not induce root exposure nor poorer bone grafting outcome.

Evaluation of maxillary alveolar ridge formation and ridge continuity after secondary alveolar bone grafting using cancellous and cortico-cancellous bone graft in unilateral cleft alveolus using cone beam computed tomographic scan - a randomized controlled trial.

PURPOSE: The aim of present study was to compare and evaluate the maxillary alveolar ridge formation and ridge continuity using cancellous and corticocanellous bone graft harvested from anterior iliac crest for complete secondary unilateral cleft alveolus defects. MATERIAL AND METHOD: All patients were randomized into two groups for secondary alveolar bone grafting. Group I (n = 10) patients treated with cancellous particulate bone graft and group II (n = 10) patients treated with cortico-cancellous block graft. Maxillary alveolar ridge bone formation was assessed with the help of cone beam computed tomography (CBCT) scan using Planmeca Romexis Viewer 5.0 software. Maxillary alveolar ridge continuity was assessed with axial section of CBCT scan and clinical occlusal photograph. Preoperative CBCT scan and occlusal photographs were compared with post-op 6-month CBCT scan and occlusal photographs. RESULT: The mean preoperative volume of cleft defect in group I was 4.2576 cm3 whereas in group II it was 4.2268 cm3. The mean postoperative bone bridge formation after 6 months in group I was 4.055 cm3 whereas in group II it was 3.8103 cm3. Preoperative and 6-month postoperative axial sections of CBCT scans were compared and 100% maxillary alveolar ridge continuity was achieved in both groups. The preoperative and postoperative occlusal photographs of both the groups were compared and showed accurate bone and well aligned maxillary alveolar ridge formation in all patients. CONCLUSION: The present study concluded that maxillary alveolar ridge formation rate is less in cortico-cancellous iliac crest block graft compared to cancellous iliac crest particulate graft, but is equally good as cancellous bone graft. CLINICAL TRIAL REGISTRATION NO: (REF/2020/09/031605)/ CTRI/ 2020/09/028001.

Accuracy of prenatal detection of facial clefts and relation between facial clefts, additional malformations and chromosomal abnormalities: a large referral-center cohort.

PURPOSE: Facial clefts belong to the most common congenital malformations and their prenatal diagnosis is a constant challenge. The aim of this study was to determine the accuracy of prenatal ultrasound in correctly classifying facial clefts. Furthermore, we aimed to specify the distribution of the type of clefts and underlying genetic conditions. METHODS: All fetuses seen with suspected facial cleft in the Department of Obstetrics, Charité - Universitätsmedizin Berlin during a period of 23 years (1999-2022) were included in this retrospective study. Clefts were classified according to the classification of Nyberg. All additional prenatal findings were assessed and correlated with the outcome. The accuracy of prenatal diagnosis was assessed. RESULTS: 292 patients were included in the study. The most common type of clefts were unilateral cleft lip and palate (CL-P) (53.6%) and bilateral CL-P (30.6%), followed by CL (8.1%), CP (5.1%) and median CL-P (2.6%). The overall pre- and postnatal concordance rate corresponding to a correct prenatal diagnosis was high, 88.9%, ranging from 73.7% (CL) to 93.7% (unilateral CL-P). Most of the median clefts (95.2%) and CP (93.3%) were associated with other sonographic abnormalities, as well as 52.2% of bilateral CL-P. Chromosomal abnormalities, mostly trisomy 13 and trisomy 18, were observed in in the median CL-P (47.6%), bilateral CL-P (31.1%) and CP (26.7%) groups, in contrast to the CL (9.1%) and unilateral CL-P (12.9%) groups. It was exceptional to have a chromosomal abnormality without additional malformations (4.8%). The mortality rate including one late miscarriage, 5 IUFD's, 74 TOPs and 6 palliative cares at birth was 29.8%, particularly high for median clefts (90.5%). CONCLUSION: Prenatal ultrasound exhibited a high accuracy to assess the type of facial clefts with an average rate of 88.9% (73.7%-93.7%) and a concordance rate of up to 93.7%, depending on the type of cleft. The search for additional malformations as well as clarifying underlying genetic conditions is essential. This allows for a targeted counseling of the parents and to best prepare for postnatal care, including surgery by the maxillofacial team.

Surgery-First Orthognathic Approach for Correction of Dentofacial Deformity in Unilateral Cleft Lip and Palate.

BACKGROUND: Although several studies have reported the advantages of the surgery-first approach for orthognathic correction of class III deformity, there is no report of the success of this approach for patients with cleft lip and palate. Therefore, the purpose of this study was to evaluate the stability and outcome of bimaxillary surgery for cleft-related dentofacial deformity using a surgery-first approach. METHODS: Forty-one patients with unilateral cleft lip and palate who consecutively underwent Le Fort I and bilateral sagittal split osteotomies for skeletal class III deformity were included. Cone-beam computed tomographic scans before surgery, 1 week after surgery, and after orthodontic treatment were used to measure the surgical and postsurgical changes in jaw position by landmarks, and outcomes of jaw protrusion and relation, incisor angle and occlusion, and menton deviation after treatment. Self-report questionnaires regarding satisfaction with overall appearance of the face and seven facial regions were administered after treatment. RESULTS: A clinically insignificant relapse was found in the maxilla (<1 mm) and mandible (<2 mm). There was a significant improvement in the jaw protrusion and relation, incisor angle and occlusion, and menton deviation. Responses from the self-report questionnaires completed after treatment indicated that patient satisfaction was high. CONCLUSION: These findings demonstrate surgical-orthodontic treatment with a surgery-first approach can successfully improve cleft-related dentofacial deformity in patients with unilateral cleft lip and palate. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Prenatal detection of orofacial clefts in Denmark from 2009 to 2018.

OBJECTIVE: To investigate the overall and type-specific prenatal detection rates (DRs) of orofacial clefts in a national cohort in Denmark. METHODS: This study was based on data from the Danish Fetal Medicine Database and included all fetuses and children from singleton pregnancies diagnosed with an orofacial cleft prenatally and/or postnatally between 2009 and 2018. The types of cleft included unilateral, bilateral or median cleft lip (CL); unilateral, bilateral or median cleft lip with secondary cleft palate (CLP); and cleft palate (CP). The clefts were grouped as cleft lip with or without cleft palate (CL(P)) or as all clefts (including CP). All cases with discordance between prenatal and postnatal diagnoses were validated in the local patient files (Astraia). Cases without prenatal validation of the postnatal diagnosis were marked as undetected. Postnatally diagnosed cases with a strong prenatal suspicion of a cleft but without an International Classification of Diseases-10 code were registered as prenatally detected. Termination of pregnancy and intrauterine death were registered as true positives even if no autopsy could be performed. Liveborn cases with a prenatal diagnosis but without a postnatal validation were excluded. RESULTS: A total of 994 cases were included in the study, of which 933 were liveborn. The prevalence of orofacial cleft was 1.6 per 1000 live births. There were no differences in the baseline characteristics between detected and undetected cases. The DR for CL(P) was 71.7% (95% CI, 64.8-78.9%), with an increase from 60.0% in 2009 to 73.0% in 2018 (P = 0.018). The type-specific DRs for the entire period were 56.4% (95% CI, 45.0-67.6%) for unilateral CL; 76.6% (95% CI, 71.7-82.9%) for unilateral CLP; 70.5% (95% CI, 52.1-87.6%) for bilateral CL; 82.3% (95% CI, 70.6-93.6%) for bilateral CLP; 0% (0/6) for median CL; 75.0% (3/4) for median CLP; and 3.3% (95% CI, 0.6-5.7%) for CP. A total of 20.9% (208/994) of the cases had associated findings, of which 33.2% (69/208) were genetic aberrations. CONCLUSIONS: The DR for CL(P) has improved in Denmark over the last decade. The DR for CLP is high, with the highest DR for bilateral CLP. However, prenatal detection of CP remains a challenge. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.