Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia.

The frequency of cleft lip with/without palate (CL/P) in the Mongolian population is approximately 1 in 1314 live births. This research aims to disseminate information about this congenital disability to the public to better understand CL/P, and people's fissures, and review administrative measures, as there is a lack of research in this area. A questionnaire survey was conducted using Google Forms, with 1000 Mongolian participants. Most participants (86.7%) said they had knowledge of the word, whereas 86.2% said they had knowledge of the condition. Most participants' answers were question-related disadvantages of CL/P patients, including statements such as "It's uncomfortable in human relationships" and "It makes an uncomfortable impression on the person you meet the first time." The results of this study revealed that most Mongolians were aware of CL/P and are concerned about patients. However, the causes of CL/P in the general population remain unknown, and further research is needed in this area.

Surgical treatment of velopharyngeal dysfunction: Incidence and associated factors in the Swedish cleft palate population.

INTRODUCTION: Speech in children with cleft palate can be affected by velopharyngeal dysfunction, which persists after primary palate repair. The incidence of surgery to correct velopharyngeal dysfunction in this patient group has previously been reported as 2.6-37%. We aimed to investigate the incidence of velopharyngeal dysfunction surgery in Swedish children with cleft palate and to examine potential associations of independent variables with this incidence. METHODS: In this cohort study, we analysed data from the Swedish cleft lip and palate quality registry for 1093 children with cleft palate with or without cleft lip. Kaplan-Meier analysis was used to estimate the risk of having velopharyngeal dysfunction surgery. Multivariable Cox proportional hazards models were used to estimate the associated effect of cleft subtype, additional diagnoses, gender, and age at and number of stages for primary palate repair on the primary outcome. RESULTS: The risk of having velopharyngeal dysfunction surgery was 25.6%. Complete primary palate repair after the age of 18 months or in more than one stage was associated with a higher risk, but it could not be determined which of these was the more significant factor. Cleft soft palate was associated with a significantly lower risk than other cleft subtypes. CONCLUSIONS: Primary palate repair at a higher age or in more than one stage may increase the risk of having velopharyngeal dysfunction surgery. Further analysis of potential unknown confounding factors and the association between the incidence of velopharyngeal dysfunction and surgery to correct this condition is needed.

Association between Maternal Birth Weight and Prevalence of Congenital Malformations in Offspring: The Japanese Environment and Children's Study.

Congenital malformations are functional and structural alterations in embryonic or foetal development resulting from a variety of factors including maternal health status. This study aimed to investigate the association between maternal birth weight (MBW) and the prevalence of congenital malformations in offspring using data from a nationwide birth cohort study in Japan including 103,060 pregnancies. A binary logistic regression model with adjustment for various covariates revealed that an MBW of <2500 g (low MBW) was associated with an increased risk of congenital heart disease (adjusted odds ratio: 1.388, [95% confidence interval: 1.075-1.792]), angioma (1.491 [1.079-2.059]), and inguinal hernia (1.746, [1.189-2.565]), while those with an MBW of ≥4000 g (high MBW) were associated with congenital anomalies of the urinary tract (2.194, [1.261-3.819]) and arrhythmia (1.775, [1.157-2.725]) compared with those with an MBW of 3000-3499 g. Low MBW was associated with cleft lip and/or palate (1.473, [1.052-2.064]), congenital heart disease (1.615, [1.119-2.332]), genital organs (1.648, [1.130-2.405]), hypospadias (1.804, [1.130-2.881]), and inguinal hernia (1.484, [1.189-1.851]) in male infants and CAKUT (1.619, [1.154-2.273]) in female infants, whereas high MBW was associated with congenital heart disease (1.745, [1.058-2.877]) and CAKUT (2.470, [1.350-4.517]) in male infants. The present study is the first to demonstrate a link between MBW and congenital malformations in Japanese children. While these results must be interpreted with caution, MBW should be considered a major predictor of congenital malformation risk.

Cleft lip and/or palate mortality trends in the USA: a retrospective population-based study.

BACKGROUND: Cleft lip and/or palate (CL/P) is one of the most common congenital anomalies worldwide. Although CL/P management may require a series of interventions, mortality resulting from CL/P alone is rare. This study aims to examine recent trends of CL/P mortality rates in the USA. METHODS: A retrospective population-based study was conducted using official US birth and death certificate data from the Centers for Disease Control and Prevention from 2000 to 2019. Annual mortality rates per 1000 births with CL/P were calculated across sex and racial groups. Multivariable logistic regression models estimated the effects of sex and race on the risk of mortality with CL/P, and linear regression models were used to examine temporal changes in mortality rate across sex and race. RESULTS: From 2000 to 2019, 1119 deaths occurred in patients with documented CL/P, for an overall incidence of 20.3 deaths per 1000 births with CL/P (95% CI 18.9 to 22.8). Of these, Patau syndrome was the listed cause of death in 167 cases (14.9%). Black individuals (OR 1.93, 95% CI 1.85 to 2.01), Hispanic (1.54, 1.49 to 1.58) and American Indian individuals (1.28, 1.20 to 1.35) were at a greater risk of CL/P mortality compared with white individuals. Additionally, females were also at a greater risk (1.35, 1.21 to 1.49). A significant upward trend in CL/P mortality was observed in Hispanic (r2=0.70, p<0.01) and American Indian individuals (r2=0.81, p<0.01) from 2000 to 2019. CONCLUSIONS: Cleft birth and mortality surveillance is essential in healthcare and prevention planning. Future studies are required to understand the differences in CL/P mortality rates across various sociodemographic groups.

Prevalence, trend, and associated risk factors for cleft lip with/without cleft palate: a national study on live births from 2016 to 2021.

BACKGROUNDS: Cleft lip with or without cleft palate (CL/P) is the most common congenital craniofacial anomaly, including non-syndromic cleft lip with or without cleft palate and cleft palate only. Failure in the fusion of median and lateral nasal processes, the maxillary prominence, and soft tissues around the oral cavity can cause CL/P. Previously, the prevalence has been estimated to be 1 among every 1000 births in 2014 among American neonates and no other reports have been available since. Thus, this study aimed to calculate the prevalence and trend of isolated CL/P among American live births from 2016 to 2021 with its associated risk factors. METHODS AND MATERIALS: In this cross-sectional population-based retrospective study, we used live birth data provided by the National Center for Health Statistics (NCHS) from the Center for Disease Control and Prevention (CDC). We calculated the prevalence per 10,000 live births of isolated (non-syndromic) CL/P from 2016 to 2021. To examine risk factors for developing isolated CL/P, we used logistic regression modelling. RESULTS: The total prevalence per 10,000 births from 2016 to 2021 was 4.88 (4.79-4.97), for both sexes, and 5.96 (5.82-6.10) for males, and 3.75 (3.64-3.87) for females. The prevalence did not show any consistent linear decreasing or increasing pattern. We found significant association between increased odds of developing isolated CL/P among cases with 20 to 24 year-old mothers (OR = 1.07, 1.01-1.13, p = 0.013), mothers who smoked 11 to 20 cigarettes per day (OR = 1.46, 1.33-1.60, p <  0.001), mothers with extreme obesity (OR = 1.32, 1.21-1.43, p <  0.001), mothers with grade II obesity (OR = 1.32, 1.23-1.42, p <  0.001), mothers with pre-pregnancy hypertension (OR = 1.17, 1.04-1.31, p = 0.009), mothers with pre-pregnancy diabetes mellitus (OR = 1.96, 1.71-2.25, p <  0.001), and mothers who used assisted reproductive technology (OR = 1.40, 1.18-1.66, p <  0.001). CONCLUSIONS: Our findings suggest a minuscule increase, albeit insignificant, in the trend of CL/P prevalence from 2016 to 2021. Developing CL/P had greater odds among mothers with pre-pregnancy diabetes, smoking, obesity, and pre-pregnancy hypertension mothers along with mothers who used assisted reproductive technology. Isolated CL/P had the highest prevalence in non-Hispanic Whites, American Indian or Alaskan Native and Native Hawaiian and Other Pacific Islanders.

Risk of orofacial clefts in relation to maternal body mass index, diabetes and hypertension.

BACKGROUND: To investigate if maternal body mass index, diabetes and hypertension are associated with orofacial clefts. METHODS: Case-control study. Information from 53,188 live births with and without orofacial cleft registered at USA Vital Statistics Natality Birth Data between 2017 and 2021. Case group consisted of all affected live births diagnosed with orofacial clefts (13,297 cases). Comparison group consisted of 39,891 live births without clefts or any other congenital malformation. Information about orofacial cleft cases were compared with the comparison group. The unadjusted and adjusted Odds Ratios were estimated to evaluate the strength of association between mother's pre-pregnancy body mass index, maternal diabetes and hypertension and orofacial cleft occurrence, assuming a p value < 0.05 and 95% confidence intervals (95% C.I.) for statistically significant differences. RESULTS: Mother's pre-pregnancy body mass index, maternal diabetes and maternal hypertension are conditions associated with an increased risk of orofacial cleft development in the child (OR = 1.08, p = 0.004, 95% C.I. = 1.024-1.149; OR = 1.32, 95%, p = 0.000, 95% C.I. = 1.202-1.444; and OR = 1.35, p = 0.000, 95% C.I. = 1.239-1.484; respectively). Maternal ethnicity, sex of infant, and cigarette smoking pregnancy remained as covariates after adjustments in all logistic regression models. CONCLUSION: Due to the increased prevalence of obesity, diabetes, and hypertension, and also to their association with congenital malformations, such as clefts, it is recommended that mothers planning to become pregnant to follow healthy habits, maintain healthy weight, and be screened for possible diabetes or hypertension prior to conception and early in pregnancy.

Publicly funded healthcare costs associated with orofacial clefts for children born in Alberta, Canada between 2002 and 2018.

BACKGROUND: Orofacial clefts (OFCs) include cleft palate (CP), cleft lip (CL), and cleft lip with cleft palate (CLP) and require multidisciplinary healthcare services. Alberta, Canada has a publicly funded, universal access healthcare system. This study determined publicly funded healthcare costs for children with an OFC and compared these costs to children without congenital anomalies. METHODS: This retrospective population-based cohort analysis used the Alberta Congenital Anomalies Surveillance System to identify children born between 2002 and 2018 with an isolated OFC. They were matched 1:1 to a reference cohort based on sex and year of birth. The study population included 1614 children, from birth to 17 years of age linked to administrative databases to estimate annual inpatient and outpatient costs. Average annual all-cause costs were compared using two-sample independent t tests. RESULTS: The mean total cleft-related costs per patient were highest for children with CLP ($74,138 CAD, standard deviation (SD) $43,447 CAD), followed by CP ($53,062 CAD, SD $74,366 CAD), and CL ($35,288 CAD, SD $49,720 CAD). The mean total all-cause costs per child were statistically significantly higher (p < .001) in children with an OFC ($56,305 CAD, SD $57,744 CAD) compared to children without a congenital anomaly ($18,600 CAD, SD $61,300 CAD). CONCLUSIONS: Despite public health strategies to mitigate risk factors, the trend for OFCs has remained stable in Alberta, Canada for over 20 years. The costs reported are useful to other jurisdictions for comparison, and to families, healthcare professionals, service planners, and policy makers.

Association of methylenetetrahydrofolate reductase gene variant C677T and folate levels in non-syndromic cleft lip/palate among Sindhi, Pakistani population.

The object ives of this study were to determine the association of methylenetetrahydrofolate reduc tase (MTHFR) gene variant C67 7 T with non -syndromic cl eft lip/palate (NSCLP) in Pakistani population and compare the m aternal serum foli c acid levels in NSCLP-affected and healthy group. A c om parative cross sec ti onal study was conducted between 2017 and 2019 at Liaquat U niversity of Medi cal and Health Science s, Jamshoro. Sixty motherinfant dy ads were recruited (n=120), inc luding NSCLP-affected and healthy infants alo ng with t heir mother s. The MTHFR C677T vari ant exhibited si gnificant association with NSCLP in dominant and over-domi nant models. No differences in maternal serum folic acid levels were obse rved between both th e groups; however, the folic acid intake during pre-conception period was associated w ith decreased risk for NSC LP. Our stu dy suggested that MTHFR 677 CT genotype was related with decreased risk for NSCLP in Sindhi, Pakistani, population. Pre -conception folic acid may decrease the ri sk for ora l clefts.

A retrospective review of the association between maternal body mass index and the risk of congenital anomalies.

The objective of the study was to examine the association of congenital anomalies with the specific classes of pre-pregnancy BMI. An IRB-approved retrospective cohort study was performed using the data from the Natality Public Use File from the National Center for Health Statistics (2019). We included all singleton live births and excluded pregnancies with suspected or confirmed chromosomal abnormalities and people with pre-existing diabetes mellitus and missing pertinent data. The primary outcome was the incidence of any major congenital anomalies in liveborn infants. The incidence of anomaly was analyzed across all BMI classes, using individuals with BMI between 18.5 and 24.9 kg/m2 as the comparison group. A test of trend was also performed to determine if the risk increased as the BMI class increased. A total of 3 047 382 maternal-neonatal dyads were included in the analysis. A non-significant higher incidence of any major anomaly was noted among people who had underweight and class III BMI. The risk of open neural tube defects, omphalocele, and cleft lip/palate increased and the risk of gastroschisis decreased with an increase in maternal BMI class (p < 0.05). The incidence of congenital anomalies increases as the pre-pregnancy BMI increases. Individuals should be encouraged to optimize their weight prior to conception and if feasible, they should obtain screening for fetal anatomy assessment by a Maternal-Fetal Medicine specialist.

The impact of COVID-19 on the well-being of Victorian children born with cleft lip and/or palate.

BACKGROUND: A longitudinal cohort study was established to investigate the well-being of children born with cleft lip and/or palate (CL/P) during the COVID-19 pandemic, in Victoria, Australia. MATERIALS AND METHODS: The Royal Children's Hospital cleft service database was used to identify children aged between 4 and 17 years old born with an isolated CL/P. Families of eligible children who consented to participate were asked to complete the Strengths and Difficulties Questionnaire (SDQ) between October and December 2020 and again 6-month later. SDQ results from typically developing Australian children during the COVID-19 pandemic were utilized from a previously published study. RESULTS: 63 parents completed the baseline questionnaire, with 44 completing the 6-month follow-up. For participants at baseline, the mean age was 8.9 years, with 55% male. All outcome domains of the SDQ improved between baseline and timepoint 2, with the difference in total difficulties scores being statistically significant, indicating a reduction in total difficulties at timepoint 2, associated with the easing of COVID-19 restrictions. When compared with the Australian population during the COVID-19 pandemic, Victorian children born with CL/P had lower SDQ scores for all difficulties outcome domains, with statistically significant results for conduct problems, hyperactivity, peer problems and total difficulties, indicating fewer difficulties for children born with CL/P. CONCLUSIONS: Children born with CL/P experienced fewer difficulties when compared with the typically developing Australian population during the COVID-19 pandemic. The level of restrictions imposed because of the pandemic also had little influence on the well-being of these children.

US air pollution is associated with increased incidence of non-syndromic cleft lip/palate.

Maternal cigarette use is associated with the fetal development of orofacial clefts. Air pollution should be investigated for similar causation. We hypothesize that the incidence of non-syndromic cleft lip with or without palate (NSCLP) and non-syndromic cleft palate (NSCP) would be positively correlated with air pollution concentration. METHODS: The incidence of NSCLP and NSCP per 1000 live births from 2016 to 2020 was extracted from the Centers for Disease Control and Prevention Vital Statistics Database and merged with national reports on air pollution using the Environmental Protection Agency Air Quality Systems annual data. The most commonly reported pollutants were analyzed including benzene, sulfur dioxide (SO2), particulate matter (PM) 2.5, PM 10, ozone (O3), and carbon monoxide (CO). Multivariable negative binomial and Poisson log-linear regression models evaluated the incidence of NSCLP and NSCP as a function of the pollutants, adjusting for race. All p-values are reported with Bonferroni correction. RESULTS: The median NSCLP incidence was 0.22/1000 births, and isolated NSCP incidence was 0.18/1000 births. For NSCLP, SO2 had a coefficient estimate (CE) of 0.60 (95% CI [0.23, 0.98], p < 0.007) and PM 2.5 had a CE of 0.20 (95% CI [0.10, 0.31], p < 0.005). Among isolated NSCP, no pollutants were found to be significantly associated. CONCLUSION: SO2 and PM 2.5 were significantly correlated with increased incidence of NSCLP. The American people and perinatal practitioners should be aware of the connection to allow for risk reduction and in utero screening.

Prevalence and Features of Maxillary Sinus Septa in Patients with Cleft Lip and Palate: Cone Beam Computed Tomography Imaging Technique.

OBJECTIVE: The development of the maxillary sinus is different in patients with cleft lip and palate (CLP) compared to non-CLP individuals. To investigate the prevalence and features of maxillary sinus septa (MSS) in patients with CLP in comparison with the non-CLP population. DESIGN: Retrospective study. INTERVENTION: Cone beam computed tomography (CBCT) evaluation. SETTING: CLP center in Shiraz faculty of dentistry, Iran. PATIENTS: A total 306 sinuses (88 cleft and 218 noncleft) on 153 images (CLP group: n = 66; control group: n = 87) were examined to determine the prevalence of septa and characterize them. MAIN OUTCOME MEASURES: Sinus septa were characterized according to height, orientation, angle, origin, and location. The chi-square test, Mann-Whitney U test, and Fisher's exact test were used for statistical analysis. RESULTS: The prevalence of septa was 28.9% and 32.1% in the CLP and control groups, respectively. No significant difference was found between the study groups in terms of prevalence, location, and orientation of MSS. The average height and angle of septa were significantly higher in the control group compared to the CLP group. Inferior origin was significantly more prevalent in the control group than in the CLP group (P = .004). CONCLUSION: There was no difference in the prevalence of MSS between patients with CLP and non-CLP individuals. However, certain features of the septa were different in patients with CLP.

Prevalence and Factors Associated with Behavioral Problems in 5-Year-Old Children Born with Cleft Lip and/or Palate from the Cleft Collective.

OBJECTIVES: To determine the UK prevalence of behavioral problems in 5-year-old children born with isolated or syndromic cleft lip and/or palate (CL/P) compared to the general population and identify potentially associated factors. DESIGN: Observational study using questionnaire data from the Cleft Collective 5-Year-Old Cohort study and three general population samples. MAIN OUTCOME MEASURE: The Strengths and Difficulties Questionnaire (SDQ). PARTICIPANTS: Mothers of children (age: 4.9-6.8 years) born with CL/P (n = 325). UK general population cohorts for SDQ scores were: Millennium Cohort Study (MCS) (n = 12 511), Office of National Statistics (ONS) normative school-age SDQ data (n = 5855), and Avon Longitudinal Study of Parents and Children (ALSPAC) (n = 9386). RESULTS: By maternal report, 14.2% of children born with CL/P were above clinical cut-off for behavioral problems, which was more likely than in general population samples: 7.5% of MCS (OR = 2.05 [1.49-2.82], P < 0.001), 9.8% of ONS (OR = 1.52 [1.10-2.09], P = 0.008), and 6.6% of ALSPAC (OR = 2.34 [1.70-3.24], P < 0.001). Children in the Cleft Collective had higher odds for hyperactivity, emotional and peer problems, and less prosocial behaviors. Maternal stress, lower maternal health-related quality of life and family functioning, receiving government income support, and maternal smoking showed evidence of association (OR range: 4.41-10.13) with behavioral problems, along with maternal relationship status, younger age, and lower education (OR range: 2.34-3.73). CONCLUSIONS: Findings suggest elevated levels of behavioral problems in children born with CL/P compared to the general population with several associated maternal factors similar to the general population.

Association between gestational exposure and risk of orofacial clefts: a systematic review and meta-analysis.

BACKGROUND: The occurrence of orofacial Clefts (OFCs) is a congenital disease caused by many factors. According to recent studies, air pollution has a strong correlation with the occurrence of OFCs. However, there are still some controversies about the current research results, and there is no relevant research to review the latest results in recent years. OBJECTIVE: In this paper, the authors conducted a systematic review and meta-analysis to explore the correlation between ambient air pollution and the occurrence of neonatal OFCs deformity. METHODS: We searched Pubmed, Web of science, and Embase databases from the establishment of the database to May 2023. We included observational studies on the relationship between prenatal exposure to fine particulate matter 2.5 (PM2.5), fine particulate matter 10 (PM10), sulfur dioxide (SO2), nitrogen dioxide (NO2), ozone (O3), carbon monoxide (CO) and the risk of cleft lip (CL), cleft palate (CP), cleft lip with or without palate (CL/P). the Newcastle-Ottawa quality assessment scale (NOS) was used to evaluate the quality of the literature. Funnel plot and Egger's regression were used to verify the publication bias. Random effect model or fixed effect model was used to estimate the combined relative risk (RR) and 95% confidence interval (95%CI). RESULTS: A total of eleven studies were included in this study, including four cohort studies and seven case-control studies, including 22,453 cases of OFCs. Ten studies had low risk of bias and only one study had high risk of bias. Three studies reported that PM2.5 was positively correlated with CL and CP, with a combined RR and 95%CI of 1.287(1.174,1.411) and 1.267 (1.105,1.454). Two studies reported a positive correlation between O3 and CL, with a combined RR and 95%CI of 1.132(1.047,1.225). Two studies reported a positive correlation between PM10 and CL, with a combined RR and 95%CI of 1.108 (1.017,1.206). No association was found between SO2, CO, NO2 exposure during pregnancy and the risk of OFCs. CONCLUSION: The results of this study showed that there was a significant statistical correlation between exposure to PM10, PM2.5, O3 and the risk of OFCs in the second month of pregnancy. Exposure assessment, research methods and mechanisms need to be further explored.

Mouse Models of Orofacial Clefts: SHH and TGF-ß Pathways.

Birth defects have always been one of the most important diseases in medical research as they affect the quality of the birth population. Orofacial clefts (OFCs) are common birth defects that place a huge burden on families and society. Early screening and prevention of OFCs can promote better natal and prenatal care and help to solve the problem of birth defects. OFCs are the result of genetic and environmental interactions; many genes are involved, but the current research has not clarified the specific pathogenesis. The mouse animal model is commonly used for research into OFCs; common methods of constructing OFC mouse models include transgenic, chemical induction, gene knockout, gene knock-in and conditional gene knockout models. Several main signal pathways are involved in the pathogenesis of OFCs, including the Sonic hedgehog (SHH) and transforming growth factor (TGF)-ß pathways. The genes and proteins in each molecular pathway form a complex network to jointly regulate the formation and development of the lip and palate. When one or more genes, proteins or interactions is abnormal, OFCs will form. This paper summarises the mouse models of OFCs formed by different modelling methods, as well as the key pathogenic genes from the SHH and TGF-ß pathways, to help to clarify the pathogenesis of OFCs and develop targets for early screening and prevention.

Impact of Orofacial Clefts on Oral Health Quality of Life: A Cross-sectional Survey Study in Saudi Arabia.

AIM: To evaluate the effect of facial clefts on the dental health quality of life of affected individuals, and to determine whether age and gender affect the oral health quality of life differently. MATERIALS AND METHODS: The cross-sectional survey included 50 participants (32 females and 18 males) from the northern region of Saudi Arabia, using a reliable and validated questionnaire, the Child Oral Health Impact Profile (COHIP), which measured self-reported oral health-related quality of life (OHRQoL) in children and adults using a five-point Likert scale. Statistical analysis was performed, and results were considered significant if the p-value was less than 0.05. RESULTS: The highest scores in the oral health domain were related to bad breath and reluctance in speaking or reading aloud in class within the school environment domain, with mean scores of 3.44 ± 1.3 and 3.52 ± 1.2, respectively. Most patients showed apprehension regarding necessary dental treatments (mean = 1.44 ± 0.07). The study found a non-statistically significant difference in tooth discomfort between age groups (p = 0.092), with individuals aged from 20 to 29 experiencing higher levels of discomfort than other age groups surveyed. CONCLUSION: The two topics with the highest mean scores in the oral health domain and the school environment domain were bad breath and not wanting to speak or read aloud in class. Females reported more discomfort, and there was a substantial association between gender and tooth pain/sensitivity. CLINICAL SIGNIFICANCE: Understanding the difficulties cleft patients face is crucial, as doing so will enable dentists to encourage and handle these issues more effectively.

Incidence of non-syndromic orofacial cleft during the COVID-19 pandemic in Saudi Arabia.

OBJECTIVES: This is the first national study to investigate the incidence of non-syndromic oro-facial clefts (NSOFC) and Pierre-Robin-Sequence in Saudi Arabia over the Covid-19 pandemic period. METHODS: All maternity hospitals (30-hospitals) in the major regions and cities of Saudi from November 2020-to-2021 were included in the study. Patients were evaluated for cleft phenotype using the LASHAL-classification system. The incidence of NSOFC in Saudi Arabia was calculated by comparing the number of NSOFCs cases born out of all live births during the study period at the included hospitals. Clinical examination was performed and information was gathered using a validated data collection form. RESULTS: In one year, 140,380 live-infants were born at the selected hospitals. Of these, 177 were diagnosed with NSOFC giving an incidence of 1.26/1,000 live-births in Saudi Arabia and the highest incidence in Medina city (2.46/1000 live-births). The incidence of cleft lip-and-palate (0.67/1000 live-births) was higher than that of cleft-palate (0.37/1000 live-births) and cleft-lip (0.22/1000 live-births). Pierre-Robin Sequence incidence was (0.04/1000 live-births). There were 21(12.1) or 23(13.2%) of NSOFC's mothers exposed or vaccinated with Covid-19, respectively. CONCLUSION: The national incidence of NSOFC in Saudi Arabia was 1.26/1000 live births with variation between phenotypes and regions in the country. In addition, to reporting Covid-19 infection prevalence and vaccine exposure among NSOFC's mothers, this study represents the first of its type to evaluate NSOFC prevalence in Saudi Arabia on a national level.

Characterization of enamel developmental defects in patients with orofacial clefts and their relationship to surgical procedures.

AIMS: This study aimed to characterize the prevalence of development defects of enamel (DDE) in patients with cleft based on the cleft phenotype and explore the relationship between surgical procedures and different types of DDE. MATERIAL AND METHODS: In this cross-sectional study, 290 standardized orthodontic documentation and medical records from a reference hospital were evaluated, which treated patients with: cleft lip (CL), cleft lip with alveolar bone involvement (CLa), cleft lip and palate (CLP), cleft palate (CP), cleft median (CM), and considering laterality as unilateral or bilateral. DDE was assessed using the Ghanim Index (2015). Information on surgical intervention periods was obtained from medical records. Statistical analyses were performed using prevalence ratio (PR) for DDE comparisons between cleft phenotypes and surgical procedures. RESULTS: The prevalence of DDE was 77.2%. Demarcated hypomineralization was associated with CP and CLP, while hypoplasia was associated with CLa, especially when bilateral. Hypoplasia was also associated with the labial adhesion surgery. CONCLUSION: Demarcated hypomineralization was the most common DDE in this population, and the cleft phenotype influenced the type of DDE manifested. The lip adhesion surgery increased the chances of hypoplasia manifestation. CLINICAL RELEVANCE: The type of DDE in patients with cleft depends on the cleft phenotype. Understanding this susceptibility enables the multidisciplinary team to monitor dental development, thus allowing early diagnosis and timely referral to the pediatric dentist and better prognoses.

Association between IRF6, TP63, GREM1 Gene Polymorphisms and Non-Syndromic Orofacial Cleft Phenotypes in Vietnamese Population: A Case-Control and Family-Based Study.

This study aims to identify potential variants in the TP63-IRF6 pathway and GREM1 for the etiology of non-syndromic orofacial cleft (NSOFC) among the Vietnamese population. By collecting 527 case-parent trios and 527 control samples, we conducted a stratified analysis based on different NSOFC phenotypes, using allelic, dominant, recessive and over-dominant models for case-control analyses, and family-based association tests for case-parent trios. Haplotype and linkage disequilibrium analyses were also conducted. IRF6 rs2235375 showed a significant association with an increased risk for non-syndromic cleft lip and palate (NSCLP) and cleft lip with or without cleft palate (NSCL/P) in the G allele, with pallele values of 0.0018 and 0.0003, respectively. Due to the recessive model (p = 0.0011) for the NSCL/P group, the reduced frequency of the GG genotype of rs2235375 was associated with a protective effect against NSCL/P. Additionally, offspring who inherited the G allele at rs2235375 had a 1.34-fold increased risk of NSCL/P compared to the C allele holders. IRF6 rs846810 and a G-G haplotype at rs2235375-rs846810 of IRF6 impacted NSCL/P, with p-values of 0.0015 and 0.0003, respectively. In conclusion, our study provided additional evidence for the association of IRF6 rs2235375 with NSCLP and NSCL/P. We also identified IRF6 rs846810 as a novel marker associated with NSCL/P, and haplotypes G-G and C-A at rs2235375-rs846810 of IRF6 associated with NSOFC.