Diagnosis Of Cleft Palate Research Articles

An effective ultrasound fetal palate screening software based on the “sequential sector scan through the oral fissure” and three-dimensional ultrasound

BackgroundOrofacial clefts are one of the most common congenital malformations of the fetal face and ultrasound is mainly responsible for its diagnosis. It is difficult to view the fetal palate, so there is currently no unified standard for fetal palate screening, and the diagnosis of cleft palate is not included in the relevant prenatal ultrasound screening guidelines. Many prenatal diagnoses for cleft palate are missed due to the lack of effective screening methods. Therefore, it is imperative to increase the display rate of the fetal palate, which would improve the detection rate and diagnostic accuracy for cleft palate. We aim to introduce a fetal palate screening software based on the “sequential sector scan though the oral fissure”, an effective method for fetal palate screening which was verified by our follow up results and three-dimensional ultrasound and to evaluate its feasibility and clinical practicability.MethodsA software was designed and programmed based on “sequential sector scan through the oral fissure” and three-dimensional ultrasound. The three-dimensional ultrasound volume data of the fetal face were imported into the software. Then, the median sagittal plane was taken as the reference interface, the anterior upper margin of the mandibular alveolar bone was selected as the fulcrum, the interval angles, and the number of layers of the sector scan were set, after which the automatic scan was performed. Thus, the sector scan sequential planes of the mandibular alveolar bone, pharynx, soft palate, hard palate, and maxillary alveolar bone were obtained in sequence to display and evaluate the palate. In addition, the feasibility and accuracy of the software in fetal palate displaying and screening was evaluated by actual clinical cases.ResultsFull views of the normal fetal palates and the defective parts of the cleft palates were displayed, and relatively clear sequential tomographic images and continuous dynamic videos were formed after the three-dimensional volume data of 10 normal fetal palates and 10 cleft palates were imported into the software.ConclusionsThe software can display fetal palates more directly which might allow for a new method of fetal palate screening and cleft palate diagnosis.

An Evaluation of Autologous Fat Injection as a Treatment for Velopharyngeal Insufficiency: A Review and Integrated Data Analysis.

Velopharyngeal insufficiency (VPI) is a condition characterized by incomplete separation of the oral and nasal cavities during speech production, thereby leading to speech abnormalities and audible nasal emissions. Subsequently, this adversely impacts communication and potentially interpersonal social interactions. Autologous fat grafting (AFG) to the velopharynx, a minimally invasive technique, aims to improve oronasal separation by providing bulk and advancing the posterior pharyngeal wall toward the soft palate. Despite its potential, the relative novelty of AFG in treating VPI has resulted in reporting of inconsistent indications, varied surgical techniques, and mixed outcomes across existing literature. This systemic review examined the evidence of AFG for VPI treatment over the past decade (2013-2023). A thorough search across five electronic databases yielded 233 studies, with 20 meeting the inclusion criteria (e.g., utilized fat injection as their selected VPI treatment, conducted study in human subjects, did not perform additional surgical procedure at time of fat injection). Selected studies encompassed patient and surgical intervention characteristics, perceptual speech assessment (PSA) scores, gap sizes, nasalance measurements, and complications. The majority of patients had a prior cleft palate diagnosis (78.2%), in which nasoendoscopy was the prevalent method for visualizing the velopharyngeal port defect. Fat harvesting predominantly occurred from the abdomen (64.3%), with an average injection volume of 6.3 mL across studies. PSA and subjective gap size scores were consistently higher preoperatively than postoperatively. PSA score analysis from seven studies revealed significant and sustained improvements postoperatively. Gap size score analysis from four studies demonstrated similar preoperative and postoperative differences. Complications were reported in 17 studies, yielding a 2.7% summative complication rate among 594 cases. Autologous fat grafting has emerged as a minimally invasive, safe, and effective treatment for mild to moderate VPI. However, challenges remain because of variability in patient selection criteria, diagnostic modalities, and outcome measurements. This review underscores the need for randomized control trials to directly compare AFG with standard-of-care surgical interventions, providing more conclusive evidence of its clinical efficacy.

Diagnostic Potential of Complementation of MRI to Prenatal Ultrasound for Detecting Orofacial Clefts in High-Risk Fetuses: A Network Meta-Analysis.

To compare the complementation of magnetic resonance imaging (MRI) to prenatal ultrasound (US) with prenatal US alone in detecting orofacial clefts in high-risk fetuses. A network meta-analysis. Literature retrieval in PubMed, EMBASE, and Cochrane library, and meta-analysis based on STATA 14.0. Fetuses were at high-risk for orofacial clefts. Prenatal US and the complementation of MRI to prenatal US. The pooled sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), diagnostic odds ratio (DOR), and area under the curve (AUC). Thirteen studies involving 776 patients were included. Direct meta-analysis showed that the complementation of MRI to prenatal US did not differ from prenatal US in detecting orofacial clefts if the type of orofacial clefts was not distinguished. Subgroup analysis showed that the specificity of prenatal US for the detection of isolated cleft palate (CP) was lower than that of the complementation of MRI to prenatal US. Furthermore, network meta-analysis consistently suggested a comparable diagnostic value between prenatal US and the complementation of MRI to prenatal US. Moreover, subgroup analysis showed that the specificity of prenatal US was significantly lower than that of complementation of MRI to prenatal US for the detection of isolated CP. MRI is more accurate than ultrasound in detecting cleft palate. Therefore, MRI should be offered if there is a fetus with a possible or ultrasound diagnosis of cleft palate, especially if the evaluation of cleft palate is deemed unsatisfactory after careful evaluation of the images.

Sociodemographic Factors Predict Long-Term Attrition from Multidisciplinary Cleft Clinic.

Identify and describe factors associated with retention and attrition of patients during longitudinal follow-up at multidisciplinary cleft clinic. Retrospective cohort study. Single, tertiary care center. Patients born between 1995 and 2007 with a diagnosis of cleft palate with or without cleft lip attending multidisciplinary cleft clinic. None tested, observational study. Age at last clinical appointment with a multidisciplinary cleft team provider. Attrition was defined as absence of an outpatient appointment following 15 years of age. Six hundred seventy-eight patients were included. The average age at last appointment across the entire cohort was 13.1 years (IQR 6.6-17.2). Patients who were Black (HR 1.60, 95% CI 1.10-2.32, p = 0.014) and other races (HR 1.90, 95% CI 1.22-2.98, p = 0.004) were more likely to be lost to follow-up compared to white patients. Publicly insured patients were more likely to experience attrition than those who were privately insured (HR 1.30, 95% CI 1.03-1.65, p = 0.030). Estimated income was not significantly associated with length of follow-up (p = 0.259). Those whose residence was in the fourth quartile of driving distance from our center experienced loss to follow-up significantly more than those who lived the closest (HR 2.04, 95% CI 1.50-2.78, p < 0.001). There is a high degree of follow-up attrition among patients with cleft lip and palate. Race, insurance status, and driving distance to our center were associated with attrition in a large, retrospective cohort of patients who have reached the age of cleft clinic graduation.

Single-cell Transcriptomics Reveals Activation of Macrophages in All-trans Retinoic Acid (atRA)-induced Cleft Palate.

Cleft palate is among the most common birth defects with an impact on swallowing and speaking and is difficult to diagnose with ultrasound during pregnancy. In this study, we systematically capture the cellular composition of all-trans retinoic acid (atRA)-exposed and normal embryonic gestation 16.5 days mouse palate by the single-cell RNA sequencing technique. The authors identified 14 major cell types with the largest proportion of fibroblasts. The proportion of myeloid cells in atRA-exposed palate was markedly higher than those in the normal palate tissue, especially M1-like macrophages and monocytes. The upregulated genes of the different expression genes between atRA-exposed palate and normal palate tissue were linked to the biological processes of leukocyte chemotaxis and migration. Protein TLR2, CXCR4, THBS1, MRC1, transcription factor encoding genes Cebpb, Fos, Jun, Rela, and signaling pathway IL-17 and phagosome were found to be significantly involved in these processes. Subsequently, cellular communication network analysis suggested that myeloid-centered cell interactions SELL, SELPLG, MIF, CXCL, ANNEXIN, THBS, and NECTIN were significantly more activated in atRA-exposed palate. Overall, we delineate the single-cell landscape of atRA-induced cleft palate, revealing the effects of overexposure to atRA during palate tissue development and providing insights for the diagnosis of cleft palate.

The Hard Palate Sweep: a multiplanar 2-dimensional sonographic method for the prenatal detection of cleft palate

Prenatal diagnosis of cleft palate is challenging. Numerous 2-dimensional and 3-dimensional methods have been proposed to assess the integrity of the fetal palate, yet detection rates remain relatively low. We propose the "Hard Palate Sweep," a novel 2-dimensional method that enables clear demonstration of the entire fetal palate throughout pregnancy, in a single sweep, avoiding acoustic shadows cast by surrounding bones. This study aimed to assess the feasibility and performance of the Hard Palate Sweep, performed throughout pregnancy. This was a prospective cross-sectional study performed between 2018 and 2022 in pregnant patients referred for a routine or targeted anomaly scan between 13 and 40 weeks of gestation. The presence or absence of a cleft palate was determined using the "Hard Palate Sweep." This was compared with the postnatal palate integrity assessment. Test feasibility and performance indices, including sensitivity, specificity, and positive and negative predictive values were calculated. Offline clips were reviewed by 2 investigators for the assessment of inter- and intraoperator agreement, using Cohen's kappa formula. The study protocol was approved by the institutional ethics committee. All participating patients were informed and provided consent. A total of 676 fetuses were included in the study. The Hard Palate Sweep was successfully performed in all cases, and 19 cases were determined to have a cleft palate. Of these, 13 cases were excluded because postmortem confirmation was not performed, leaving 663 cases available for analysis. Six cases determined to have a cleft palate were confirmed postnatally. In 655 of 657 cases prenatally determined to have an intact palate, this was confirmed postnatally. In the 2 remaining cases, rare forms of cleft palate were diagnosed postnatally, rendering 75% sensitivity, 100% specificity, 100% positive predictive value, and 99.7% negative predictive value for the Hard Palate Sweep (P<.001). There was complete intra- and interoperator agreement (kappa=1; P<.0001). The Hard Palate Sweep is a feasible and accurate method for prenatally detecting a cleft palate. It was successfully performed in all attempted cases between 13 and 40 weeks of gestation. This method is reproducible, offering high sensitivity and specificity. Implemented routinely, the Hard Palate Sweep is expected to increase the prenatal detection of cleft palate.

Unilateral alveolar cleft size on prenatal 2-D ultrasonography predicts cleft of the secondary palate in fetal unilateral cleft lip: A Pilot Study.

Prenatal diagnosis of cleft palate (CP) is challenging. The current study's objective was to investigate if prenatal alveolar cleft width is associated with the likelihood of a cleft of the secondary palate in unilateral cleft lip (CL). The authors reviewed 2D US images in fetuses with unilateral CL from 1/2012-2/2016. Images of the fetal face were obtained with a linear and/or curved probe in the axial and coronal planes. Measurements of the alveolar ridge gap were taken by the senior radiologist. Post-natal phenotype findings were compared with prenatal findings. Thirty patients with unilateral CL met inclusion criteria; average gestational age was 26.67 ± 5.11 weeks (range 20.71, 36.57 weeks). Ten fetuses were found to have an intact alveolar ridge by prenatal US; postnatal exam confirmed intact secondary palate in all. Small alveolar defects <4 mm were noted in 3 fetuses; postnatal examination documented CP in a single patient. CP was confirmed in 15 of the remaining 17 fetuses who had alveolar cleft width >4 mm. An alveolar defect ≥ 4 mm on prenatal US was associated with greater likelihood of a cleft of the secondary palate (c 2 (2, n=30) = 20.23, p<.001). In the setting of unilateral CL, prenatal US documentation of alveolar defects ≥4 mm are highly predictive of the presence of a cleft of the secondary palate. Conversely, an intact alveolar ridge is associated with an intact secondary palate.

A feasible method to evaluate fetal palate: sequential sector-scan through oral fissure

BackgroundPrenatal diagnosis of cleft palate is still challenging. To describe a practical and efficient method, sequential sector-scan through oral fissure (SSTOF), to evaluate palate.MethodsAccording to the characteristics of the fetal oral anatomy and ultrasonic directivity, we designed a practical method, sequential sector-scan through oral fissure, to evaluate the fetal palate, and the approach was verified efficiently by following up results of those fetuses with orofacial cleft who were induced because of their accompanied lethal malformations. Then, the 7098 fetuses were evaluated using sequential sector-scan through oral fissure. Fetuses were followed up after birth or induction to validate and analyze prenatal diagnosis.ResultAccording to the scanning design, sequential sector-scan through oral fissure was performed successfully from the soft palate to the upper alveolar ridge in induced labor fetuses, and the structures were displayed clearly. Among 7098 fetuses, satisfactory images were obtained for 6885 fetuses and the remaining 213 fetuses’ images were unsatisfactory because of fetuses’ positions and pregnant women with high BMI. Among 6885 fetuses, 31cases were diagnosed CLP or CP, which were confirmed after delivery or termination. There were no missing cases.ConclusionsSSTOF is a practical and efficient method to diagnose cleft palate, which might be applied to evaluate the fetal palate in prenatal diagnosis.

Incidence of occult cleft palate on prenatal magnetic resonance images obtained for non-cleft indications

Prenatal diagnosis of craniofacial anomalies has improved family education and preparedness. Isolated cleft palate, however, remains difficult to identify sonographically. The aim of this study was to investigate the rate of incidental cleft palate identified on fetal magnetic resonance imaging (MRI) following the ultrasound detection of non-cleft abnormalities. This was a retrospective study of pregnant women who had fetal MRI performed between 2003 and 2017. To be included, the woman had to have been referred for fetal imaging for a non-cleft indication, with subsequent identification of an isolated cleft palate on MRI. Fetuses with a postnatal diagnosis of Robin sequence were excluded. The study sample included 30 women. Mean gestational age at MRI was 24 weeks 4 days± 38 days. Most referrals (76.7%) were for non-cleft craniofacial anomalies, of which micrognathia was the most common (63.3%). The annual incidence of occult cleft palate diagnosis was 0.4%, and a genetic syndrome was suspected based on imaging findings in 76.7%. Although rare, isolated cleft palate found incidentally on fetal imaging led to concern for a genetic syndrome in a high percentage of cases. This suggests that early referral for fetal MRI may provide critical information when sonographic fetal anomalies have been identified.

Supporting Parents through a Cleft Palate Diagnosis

Supporting Parents through a Cleft Palate Diagnosis

Accuracy of Prenatal Ultrasound Scans for Screening Cleft Lip and Palate: A Systematic Review.

Children born with clefts encounter various postnatal issues which have a negative impact and long-term psychological effects on both the parents and themselves. This systematic review aims to find the accuracy of two-dimensional (2D)/3D scans for screening cleft lip and palate which would help the parents to be mentally and psychologically prepared to plan for future surgeries. To identify relevant literature, an electronic search was performed using PubMed, Trip database, Cochrane, and Google Scholar database. The search yielded 927 articles, of which 10 fulfilled the eligibility criteria and were included in this systematic review. These studies showed that the combination of 2D and 3D ultrasound scans has increased the specificity and sensitivity in detecting orofacial clefts, as they aid in improved visualization of the fetal face. However, in future, the visualization of the palate can be improved by inventing other modified views as cleft palate diagnosis is more prone to error.

VP15.04: Use of 3D during screening ultrasounds to improve diagnosis of cleft palate: feasibility and performance according to operator experience

Prenatal diagnosis of cleft palate is often missed by conventional 2D US, especially if not associated with cleft lip. This has implications as cleft palate can be associated with chromosomal abnormalities or syndromes. A higher detection rate (DR) would allow the performance of diagnostic tests, counselling, planning of follow-up. The aims of the study were to assess the rate of successful acquisition of 3D volumes of the fetal palate during screening-US and the quality of the volume obtained according to the operator's experience. Patients referred for anomaly and growth scans underwent study of the fetal palate with 2D and 3D only if feasible and within the allocated time of the examination with Samsung VS80 or GE Voluson E10 machines. Different render options were compared (Studio live HD/Surface/Skeleton for GE and Realistic view/CrystalVue for Samsung). Examinations were performed by 3 operators with different levels of expertise. The reasons for failed acquisition were recorded and volumes were assessed by 2 external operators and scored for quality (0-6 points). 188 patients were included (mean GA of 23,5 weeks+/-4,7). Volumes were acquired in 10-59% of cases, with the worst rate for the operator with < 5years of experience (p< 0.05). Lack of time was the most frequent reason for acquisition failure (58,2%), followed by malposition (24,5%) and BMI (17,3%). GA and BMI had an important role in the quality of the image obtained. The more experienced operators had better scores, with images considered satisfactory in nearly 80% of cases, compared to 60% of the less expert operator (n.s). Volume acquisition of the palate can be implemented in screening scans. This can be performed even by less-expert operators obtaining good quality volumes in more than half of the cases. However, despite the potential of this technique in increasing the DR of cleft palate, the frequent need for extra time, fetal malposition, and the need for high-quality equipment are obstacles to a formal recommendation.

Racial Disparities in Cleft Lip Repair: A National Assessment

Background/purposeRacial disparities in surgical care in the United States have been previously demonstrated. In cleft lip repair, however, an association between race and outcomes has not been established. This study aimed to identify the impact of race on timing, costs, and complications following cleft lip repair using the Kids’ Inpatient Database (KID). MethodsPatients who underwent cleft lip repair were identified in the KID database from 2006 to 2012. Demographic data collected included race, diagnosis, insurance status, the mean income of patient Zip Code (as proxy for socioeconomic status), hospital costs, and comorbidities. ANOVA and Chi-squared analyses were used to assess differences in demographic variables across races. Bivariable linear and logistic regression models were used to identify gross differences in timing of surgery, cost of surgery, and hospital length of stay (LOS) for each race in comparison to white patients. Multivariable models were performed across the same parameters to adjust for other contributing variables. ResultsIn total, 5927 patients were identified with cleft lip: 3724 white, 279 black, 1316 Hispanic, 277 Asian/Pacific-Islander, and 331 other races. Cleft diagnoses differed by race (P < .001); bilateral clefts were most frequent among Hispanic patients (29.7%), and white patients were most likely to have concurrent diagnosis of cleft palate (70.4%). There were significant differences in insurance and income status by race (P < .001), with black patients most likely to utilize Medicaid (69.8%) and live in lowest-income quartile areas (45.9%). Overall, white patients received cleft lip repair earlier (3.8 months) than all other patients (P < .001). Hospital charges were also lower among white patients than all other groups (P < .001), with non-white patients costing an additional $10,910.25 per stay. Race-based differences in both timing and costs persisted (P < .05), even when controlling for other factors, with greatest delays (+4.0 months) and highest costs (+$5385.67) among Asian patients. Significant differences (P < .001) were also seen in LOS for each race when compared to whites (1.34 days) with highest LOS seen in black patients (1.99 days). However, race-based differences in LOS were not significant in multivariable regression, which showed a mediating effect by low-income status (P = .017) and comorbidities (P < .001). Similarly, while a minimal increase in complications was seen among Asian patients (OR 1.01, P = .001), these differences were largely mediated by the severity of patient comorbidities (P < .001). ConclusionRace was associated with significant differences in admission characteristics and outcomes in cleft lip repair. White patients generally underwent surgical repair earlier, incurred fewer hospital charges, and experienced shorter lengths of stay and fewer complications than their non-white counterparts. Disparities appear to be partially mediated by differences in socioeconomic status and underlying patient health, among other factors. Future efforts should aim to identify barriers to cleft care and minimize disparities for minority patients.

Characteristics and surgical outcomes of cleft palate in kabuki syndrome: a case series of 11 patients

ObjectiveA significant number of patients with KS have cleft palate (CP) or submucous cleft palate (SMCP) and show delayed speech development. However, few reports have discussed the characteristics of CP in KS and the outcomes of postoperative speech development. The purpose of this study was to investigate the characteristics and surgical outcomes of CP in patients with KS, and to discuss the importance of the diagnosis of CP or SMCP.MethodsWe conducted a retrospective study on patients with clinically diagnosed KS who underwent palatoplasty. Clinical and surgical data were collected from patients’ medical records, and velopharyngeal function was evaluated using nasopharyngoscopy and speech analysis.ResultsIn 11 cases, 5 patients had CP (45.5%) and 6 had SMCP (54.5%). Four patients who were genetically tested had a pathogenic variant of KMT2D. Seven of nine patients (77.8%) who underwent conventional palatoplasty showed velopharyngeal insufficiency and hypernasality. All patients who underwent pharyngeal flap surgery achieved velopharyngeal competency. Statistical analysis revealed a statistically significant difference in postoperative results between non-syndromic and KS patients.ConclusionPatients with SMCP may be more common than previously reported. The results showed that it is difficult to produce optimal results with conventional palatoplasty; therefore, pharyngeal flap surgery should be considered as a treatment to obtain favorable results. Pharyngeal flap surgery in patients with KS should be carefully designed based on speech evaluation and nasopharyngoscopic findings.

Excessive All-Trans Retinoic Acid Inhibits Cell Proliferation Through Upregulated MicroRNA-4680-3p in Cultured Human Palate Cells.

Cleft palate is the second most common congenital birth defect, and both environmental and genetic factors are involved in the etiology of the disease. However, it remains largely unknown how environmental factors affect palate development. Our previous studies show that several microRNAs (miRs) suppress the expression of genes involved in cleft palate. Here we show that miR-4680-3p plays a crucial role in cleft palate pathogenesis. We found that all-trans retinoic acid (atRA) specifically induces miR-4680-3p in cultured human embryonic palatal mesenchymal (HEPM) cells. Overexpression of miR-4680-3p inhibited cell proliferation in a dose-dependent manner through the suppression of expression of ERBB2 and JADE1, which are known cleft palate-related genes. Importantly, a miR-4680-3p-specific inhibitor normalized cell proliferation and altered expression of ERBB2 and JADE1 in cells treated with atRA. Taken together, our results suggest that upregulation of miR-4680-3p induced by atRA may cause cleft palate through suppression of ERBB2 and JADE1. Thus, miRs may be potential targets for the prevention and diagnosis of cleft palate.

Effect of Cleft Palate Repair Timing on Inpatient Complication Rate: Review of a National Database.

Timing of cleft palate repair is controversial. We aim to assess whether timing of cleft palate repair affects rates of inpatient complications, length of stay (LOS), and cost of stay. The Healthcare Cost and Utilization Project Kids' Inpatient Database 2009 was queried for all admissions with a primary diagnosis of cleft palate during which cleft palate repair was performed as a primary procedure. Age 6 months or less was termed "early" repair, while age >6 months was termed "standard" repair. Patients age >3 years old, inpatient stays >30 days, and those stays in which a cleft lip repair was performed were excluded. Logistic regressions were used to model the probability of complications. Generalized linear models and a natural log link function were used for LOS and hospital charges, using SAS 9.4. We included 223 early and 1482 standard repair patients. Early repairs were exclusively performed in urban hospitals (P < 0.001). Eighty-nine patients experienced a total of 100 complications, including respiratory failure (N = 53), airway obstruction (N = 18), and oropharyngeal hemorrhage (N = 13). We found no significant difference in complication rate or total hospital charges in the 2 groups. The earlier repair group had a slightly longer LOS (P = 0.048). Over 85% of United States cleft palate repairs are performed after 6 months of age. All early repairs were performed at urban hospitals, and had slightly longer LOS. There was a 5.1% overall complication rate. Available data revealed no significant difference in complication rates between early repair and standard repair groups. 3b.

Improving the efficiency of prenatal diagnosis of cleft lip and palate

Objective: to identify the most effective and affordable method to diagnose various types of fetal cleft lip and palate, the use of which is possible in the majority of specialized obstetric care facilities. Material and methods. The study included the results of ultrasound examination of fetuses (59 cases) in various modes with cleft lip and palate of various types within gestational periods from 16 to 36 weeks. Results. The sensitivity indices of the generally accepted method of two-dimensional B-mode ultrasound have been determined for diagnosing all types of clefts, which amounted to 81.3 %, and the sensitivity for diagnosing cleft palate and cleft lip and palate amounted to 80.3 %. The sensitivity indices of the newly developed diagnostic method (ultrasound elastography of the palate) have been determined, which amounted to 89.8 % in the diagnosis of all types of clefts, and 90.2 % in the diagnosis of cleft palate and cleft lip and palate (46/51). Demonstration of the image of the fetal face obtained during the three-dimensional B-mode reconstruction to its future parents helps the family to make a more balanced and correct decision on further pregnancy tactics. In cases of cleft palate, a new visualization diagnostic criterion has been defined - tongue bifurcation. MRI of the fetal head is not an effective and affordable method for the diagnosis of facial clefts, which can be widely used in practice. Conclusion: It is advisable and necessary to conduct an obligatory study of the karyotype in fetuses with crevices identified during imaging examination at any gestational age. As a new diagnostic criterion for cleft palate, detected by B-mode ultrasound, tongue bifurcation can be used. The utilization of the EN method in combination with the developed coloristic criteria for RHN and RN increases their prenatal detection in general population by 9.9 %. At the same time, the detectability of all types of crevices increases by 8.5 %. In order to objectify the explanations about the essence of revealed defects of the face and structures of the oral cavity, it is necessary to demonstrate a three-dimensional sonogram of the fetal face obtained during three-dimensional B-mode reconstruction to its future parents. MRI of the fetal head cannot be recommended as an effective and affordable method for diagnosing facial clefts due to the impossibility to obtain a satisfactory image in most cases.

A Novel Method for the Prenatal Diagnosis of Cleft Palate Based on Amniotic Fluid Metabolites

ABSTRACT Background and purpose The prenatal diagnosis of cleft palate is an important component of sequential therapy, but the relevant diagnostic methods are still limited. We aimed here, to explore the possibility of an early prenatal diagnosis of cleft palate by assessing metabolites in pregnant mice. Methods Twenty-four inseminated females were randomly divided into retinoic acid (RA)-treated (treated with retinoic acid at 10.5 gestation days) and control groups. The metabolites of the embryonic palatal tissue, maternal amniotic fluid, and serum were characterized using 9.4T magnetic resonance spectroscopy in vitro. Then, a predictive model was established through the principal component analysis (PCA), and the correlations between the metabolites of amniotic fluid and palatal tissue were explored using orthogonal-2 partial least squares (O2- PLS). Results The incidences of cleft palate were 100% and 0% in the RA-treated and control groups, respectively. A predictive PCA model with a high specificity and sensitivity was established for the early prenatal diagnosis of isolated cleft palate using amniotic fluid metabolic data. Between RA-treated and control mice, we found that two metabolites in the amniotic fluid and palatal tissue were correlated. Creatinine showed the same trend in the palatal tissue and amniotic fluid, while choline showed opposite trends in the two tissues. However, the data for serum metabolites could not be used to establish a prediction model. Conclusion This study indicates that assessing the metabolites of amniotic fluid is a potential approach for the prenatal diagnosis of isolated cleft palate.

Accurate Prenatal Diagnosis of Cleft Palate Using Magnetic Resonance Imaging with Slice-to-Volume Reconstruction

Cleft palate (CP) is one of the most common human birth defects. The routine clinical technique for prenatal diagnosis of CP is ultrasound (US). However, US has many limitations on the diagnosis of CP especially posterior CP. In this work, we employed a 3D super-resolution reconstruction method to reconstruct 3D isotropic volumetric images from a series of 2D images and evaluate its feasibility to the diagnosis of CP. Quantitative comparison between original 2D and the reconstructed 3D images shows that the reconstructed 3D images have better image quality than the original 2D images in terms of SNR (21.48 ± 0.58 vs. 14.80 ± 2.59, p = 0.021), CNR (73.13 ± 10.96 vs. 42.97 ± 6.75, p = 0.022), image quality score (3.4 ± 0.7 vs. 3.0 ± 0.8, p = 0.046), and diagnostic confidence score (3.8 ± 0.4 vs. 3.1 ± 0.9, p = 0.038). Using the findings at birth as standard reference, the sensitivity (SE), specificity (SP), positive and negative predictive values (PPV and NPV), and the accuracy (ACC) of conventional 2D method and the proposed 3D method were calculated, and all participants were correctly identified by the radiologists based on the reconstructed 3D images. There was one participant with fetal cleft lip and palate that were not correctly identified based the original 2D images. Therefore, the reconstructed 3D images can improve the accuracy and efficiency of the prenatal diagnosis of CP. It can serve as a complementary tool for the diagnosis of CP.

EP16.19: The value 3D OmniView ultrasound for diagnosis of cleft palate

EP16.19: The value 3D OmniView ultrasound for diagnosis of cleft palate