Stability of Orofacial Clefting Rate in Alberta, 1980–2011

2014 ◽  
Vol 51 (6) ◽  
pp. 113-121 ◽  
Author(s):  
R. Brian Lowry ◽  
Barbara Sibbald ◽  
Tanya Bedard
Keyword(s):  
Folic Acid ◽  
Cleft Palate ◽  
Congenital Anomalies ◽  
Cleft Lip ◽  
Folic Acid Supplementation ◽  
Multiple Sources ◽  
Orofacial Clefts ◽  
Folic Acid Fortification ◽  
Orofacial Clefting ◽  
The Impact

Objective To determine the prevalence and trends of orofacial clefts in Alberta (Canada) over a 33-year period (1980 through 2011) and to determine whether the trends differ for subcategories of orofacial clefts for the period from 1997 through 2011. Design A prevalence study based on the Alberta Congenital Anomalies Surveillance System, which has multiple sources of ascertainment, capability of verification, and an upper age limit of 1 year. Inclusion All live born and stillborn babies and fetal deaths less than 20 weeks' gestation (including terminations of pregnancy) born in Alberta of mothers who reside in Alberta. Results and Conclusions Rates for cleft lip with or without cleft palate and cleft palate only have been very stable over the 33-year period (1980 through 2011). These rates include all clefts (isolated, syndromes, recognizable conditions, chromosomal and multiple congenital anomalies). Ascertainment of fetal deaths less than 20 weeks' gestation began in 1997. There are trends for the 1997 through 2011 cohort with a marginally significant increase for cleft lip with or without cleft palate in the isolated category and a significant decrease for cleft palate, mainly in the associated groups. The impact of folic acid fortification and/or multivitamins/folic acid supplementation reports in the literature have shown no consensus with respect to a change in the prevalence of orofacial clefts. It is unclear whether folic acid fortification has had any impact in Alberta.

scholarly journals Effects of folic acid fortification on orofacial clefts prevalence: a meta-analysis

2017 ◽  
Vol 20 (12) ◽  
pp. 2260-2268 ◽  
Author(s):  
Natalia Millacura ◽  
Rosa Pardo ◽  
Lucia Cifuentes ◽  
José Suazo
Keyword(s):  
Folic Acid ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Meta Analysis ◽  
Orofacial Clefts ◽  
Folic Acid Fortification ◽  
Scientific Databases ◽  
Beneficial Effects ◽  
Study Heterogeneity ◽  
Mandatory Policy

AbstractObjectiveOrofacial clefts (OFC) are the most prevalent craniofacial birth defect. Folic acid (FA) supplementation has been demonstrated as an effective intervention to reduce risk of OFC occurrence. However, the effect of mandatory FA fortification of wheat and/or maize flour on OFC prevalence has shown controversial results among countries adopting this policy. Thus, we performed a meta-analysis to synthesize the available evidence evaluating the global impact of this mandatory policy on OFC occurrence.DesignLiterature search in conventional and grey medical/scientific databases showed fifteen studies considering OFC prevalence in pre- and post-fortification periods with FA. The effect of this policy was evaluated by computing relative risk (RR) and separating samples into total OFC, non-syndromic forms, cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO).ResultsWe found a significant effect of FA fortification only on non-syndromic CL/P (RR=0·88; 95 % CI 0·81, 0·96), whereas neutral effects were detected for total OFC (syndromic plus non-syndromic) and CPO.ConclusionsOur results may reflect the different aetiology of syndromic OFC with respect to non-syndromic forms and the CL/P related to CPO. Although the number of non-syndromic CL/P samples was lower than that for total OFC, the absence of both between-study heterogeneity and publication bias leads us to conclude that FA fortification may have beneficial effects on non-syndromic CL/P.

scholarly journals Non-syndromic cleft palate: Association analysis on three gene polymorphisms of the folate pathway in Asian and Italian populations

2019 ◽  
Vol 33 ◽  
pp. 205873841985857 ◽  
Author(s):  
Francesco Carinci ◽  
Annalisa Palmieri ◽  
Luca Scapoli ◽  
Francesca Cura ◽  
Francesco Borelli ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Folic Acid Supplementation ◽  
Nucleotide Polymorphisms ◽  
Orofacial Clefts ◽  
Single Nucleotide ◽  
Candidate Gene Association ◽  
Folate Pathway ◽  
Family Based ◽  
Gene Association Study

Periconceptional folic acid supplementation can reduce the risk of inborn malformations, including orofacial clefts. Polymorphisms of MTHFR, TCN2, and CBS folate-related genes seem to modulate the risk of cleft lip with or without cleft palate (CL/P) in some populations. CL/P and cleft palate only (CPO) are different malformations that share several features and possibly etiological causes. In the present investigation, we conducted a family-based, candidate gene association study of non-syndromic CPO. Three single nucleotide polymorphisms, namely, rs1801133 of MTHFR, rs1801198 of TCN2, and rs4920037 of CBS, were investigated in a sample that included 129 Italian and 65 Asian families. No evidence of association between the three genotyped polymorphisms and CPO was found in the Italian and Asian cases, indeed the transmission disequilibrium test did not detect any asymmetry of transmission of alleles. This investigation, although with some limitation, further supports that CL/P and CPO diverge in their genetic background.

scholarly journals Incidence of Orofacial Clefts in Kumasi, Ghana

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
P. Agbenorku ◽  
M. Yore ◽  
K. A. Danso ◽  
C. Turpin
Keyword(s):  
Cleft Palate ◽  
Congenital Anomalies ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Orofacial Clefts ◽  
Female Ratio ◽  
Live Births ◽  
Male Female Ratio ◽  
Cleft Lip Palate ◽  
History Of

Background. Cleft lip and cleft palate are among the most common orofacial congenital anomalies. This study is to establish Orofacial Clefts Database for Kumasi, Ghana, with a view to extend it to other cities in future to obtain a national orofacial anomaly database. Methods. A descriptive prospective survey was carried out at eleven selected health facilities in Kumasi. Results. The total number of live births recorded was 27,449. Orofacial anomalies recorded were 36, giving an incidence of 1.31/1000 live births or 1 in 763 live births. The mean maternal age of cleft lip/palate babies was 29.85 years (range 18–40 years). The male : female ratio for the orofacial anomalies babies was 1.3 : 1; the male : female ratio was 0.5 : 1 in the cleft lip group, 1.3 : 1 in the cleft lip and palate group, and 4 : 1 in the cleft palate group. The majority of clefts were unilateral (69.4%, n=25), with females (n=14) outnumbering males (n=11). A family history of cleft was recorded with five babies (13.9%). Associated congenital anomalies were recorded in seven (19.4%) cleft lips and/or palates. Conclusion. The incidence of 1 in 763 live births found in this study indicates that cleft lip/palate is a common congenital anomaly in Kumasi.

scholarly journals Efficacy of Periconceptional High-Dose Folic Acid in Isolated Orofacial Cleft Prevention: A Systematic Review

2019 ◽  
Vol 52 (02) ◽  
pp. 153-159 ◽  
Author(s):  
Rajshree Jayarajan ◽  
Anantharajan Natarajan ◽  
Ravindranathan Nagamuttu
Keyword(s):  
Folic Acid ◽  
High Risk ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Meta Analysis ◽  
Strong Association ◽  
Folic Acid Supplementation ◽  
Case Control ◽  
High Dose ◽  
Case Control Studies

Abstract Background The effectiveness of folic acid in prevention of neural tube defects has been well established. Periconceptional supplementation of folic acid in low doses has been shown to be effective in some studies on its efficacy in prevention of occurrence of clefts. There are few studies on high-dose folic acid for prevention of occurrence and recurrence of clefts in high risk cases and the overall consensus based on these is not available. Objectives The aim of this review is to assess whether high-dose folic acid supplementation during the periconceptional period reduces the risk of occurrence of nonsyndromic clefts and recurrence in high-risk cases. Search Methods Search was conducted in the various databases and trial registers. There were no restrictions in the search with regards to language, study setting, or date of publication. Results The search yielded four studies—one randomized control trial, two prospective control trials, and a case–control surveillance on screening 401 articles. The three case–control studies were specifically on recurrence of clefts in high risk cases. The heterogeneity of the studies prevented conduction of a meta-analysis. But results of the studies demonstrate a strong association between high-dose folic acid and isolated nonsyndromic cleft lip with or without cleft palate (CL±CP). But such an effect is weak with regards to isolated cleft palate (CP). Conclusions With the limited evidence available, our conclusion is that high-dose folic acid probably has a role in prevention of recurrence of isolated CL±CP in high-risk individuals, but not CP.

RERE deficiency contributes to the development of orofacial clefts in humans and mice

2021 ◽  
Author(s):  
Bum Jun Kim ◽  
Hitisha P Zaveri ◽  
Peter N Kundert ◽  
Valerie K Jordan ◽  
Tiana M Scott ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Neurodevelopmental Disorder ◽  
Mouse Embryos ◽  
Deletion Syndrome ◽  
Orofacial Clefts ◽  
Orofacial Clefting ◽  
Increased Risk ◽  
The Brain ◽  
Human And Mouse

AbstractDeletions of chromosome 1p36 are the most common telomeric deletions in humans and are associated with an increased risk of orofacial clefting. Deletion/phenotype mapping, combined with data from human and mouse studies, suggests the existence of multiple 1p36 genes associated with orofacial clefting including SKI, PRDM16, PAX7 and GRHL3. The arginine–glutamic acid dipeptide (RE) repeats gene (RERE) is located in the proximal critical region for 1p36 deletion syndrome and encodes a nuclear receptor co-regulator. Pathogenic RERE variants have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye or heart (NEDBEH). Cleft lip has previously been described in one individual with NEDBEH. Here we report the first individual with NEDBEH to have a cleft palate. We confirm that RERE is broadly expressed in the palate during mouse embryonic development, and we demonstrate that the majority of RERE-deficient mouse embryos on C57BL/6 background have cleft palate. We go on to show that ablation of Rere in cranial neural crest (CNC) cells, mediated by a Wnt1-Cre, leads to delayed elevation of the palatal shelves and cleft palate and that proliferation of mesenchymal cells in the palatal shelves is significantly reduced in Rereflox/flox; Wnt1-Cre embryos. We conclude that loss of RERE function contributes to the development of orofacial clefts in individuals with proximal 1p36 deletions and NEDBEH and that RERE expression in CNC cells and their derivatives is required for normal palatal development.

scholarly journals Maternal periconceptional folic acid supplementation reduced risks of non-syndromic oral clefts in offspring

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Wenli Xu ◽  
Ling Yi ◽  
Changfei Deng ◽  
Ziling Zhao ◽  
Longrong Ran ◽  
...  
Keyword(s):  
Folic Acid ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Potential Effect ◽  
Population Based ◽  
Folic Acid Supplementation ◽  
Oral Clefts ◽  
Acid Supplementation ◽  
Before And After ◽  
Control Study

AbstractMaternal periconceptional folic acid supplementation (FAS) has been documented to be associated with decreased risk of nonsyndromic oral clefts (NsOC). However, the results remain inconclusive. In this population-based case–control study of 807 singletons affected by NsOC and 8070 healthy neonates who were born between October 2010 and September 2015 in Chengdu, China, we examined the association of maternal FAS with the risk of nonsyndromic cleft lip with or without cleft palate (NsCL/P), and cleft palate (NsCP). Unconditional logistic regression analysis was used to estimate the crude and adjusted odds ratios (ORs) and 95% confidential intervals (CI). Significant associations were found between maternal periconceptional FAS and decreased risk of NsCL/P (aOR = 0.41, 95% CI 0.33–0.51). This protective effect was also detected for NsCL (aOR = 0.42, 95% CI 0.30–0.58) and NsCLP (aOR = 0.41, 95% CI 0.31–0.54). Both maternal FAS started before and after the last menstrual period (LMP) were inversely associated with NsCL/P (before LMP, aOR = 0.43, 95% CI 0.33–0.56; after LMP, aOR = 0.41, 95% CI 0.33–0.51). The association between NsCP and maternal FAS initiating before LMP was also found (aOR = 0.52, 95% CI 0.30–0.90). The findings suggest that maternal periconceptional FAS can reduce the risk of each subtype of NsCL/P in offspring, while the potential effect on NsCP needs further investigations.

Reduced Socioeconomic Disparities in Cleft Care After Implementing a Cleft Nurse Navigator Program

2021 ◽  
pp. 105566562110056
Author(s):  
Connor Wagner ◽  
Carrie E. Zimmerman ◽  
Carlos Barrero ◽  
Christopher L. Kalmar ◽  
Paris Butler ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Care Center ◽  
Tertiary Care ◽  
Multidisciplinary Care ◽  
Socioeconomic Disparities ◽  
Outpatient Appointment ◽  
Nurse Navigator ◽  
Insured Patients ◽  
The Impact

Objective: To evaluate the impact of a Cleft Nurse Navigator (CNN) program on care for patients with cleft lip and cleft palate and assess the programs efficacy to reduce existing socioeconomic disparities in care. Design: Retrospective review and outcomes analysis (n = 739). Setting: Academic tertiary care center. Patients: All patients presenting with cleft lip and/or cleft palate (CL/P) born between May 2009 and November 2019 with exclusions for atypical clefts, submucous cleft palates, international adoption, and very late presentation (after 250 days of life). Interventions: Multidisciplinary care coordination program facilitated by the CNN. Main Outcome Measures: Patient age at first outpatient appointment and age at surgery, reported feeding issues, weight gain, and patient-cleft team communications. Results: After CNN implementation, median age at outpatient appointment decreased from 20 to 16 days ( P = .021), volume of patient-cleft team communications increased from 1.5 to 2.8 ( P < .001), and frequency of reported feeding concerns decreased (50% to 35%; P < .001). In the pre-CNN cohort, nonwhite and publicly insured patients experienced delays in first outpatient appointment ( P < .001), cleft lip repair ( P < .011), and cleft palate repair ( P < .019) compared to white and privately insured patients, respectively. In the post-CNN cohort, there were no significant differences in first appointment timing by race nor surgical timing on the basis of racial identity nor insurance type. Conclusions: A variety of factors lead to delays in cleft care for marginalized patient populations. These findings suggest that a CNN can reduce disparities of access and communication and improve early feeding in at-risk cohorts.

scholarly journals Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate

2017 ◽  
Vol 136 (3) ◽  
pp. 275-286 ◽  
Author(s):  
Elizabeth J. Leslie ◽  
Jenna C. Carlson ◽  
John R. Shaffer ◽  
Azeez Butali ◽  
Carmen J. Buxó ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Orofacial Clefts ◽  
Genome Wide ◽  
Meta Analyses ◽  
Novel Associations

scholarly journals The impact of participation in genetic research for families with cleft lip with and without cleft palate: a qualitative study

2014 ◽  
Vol 5 (3) ◽  
pp. 249-256 ◽  
Author(s):  
Lynley J. Donoghue ◽  
Margaret A. Sahhar ◽  
Ravi Savarirayan ◽  
Supriya Raj ◽  
Nicky M. Kilpatrick ◽  
...  
Keyword(s):  
Qualitative Study ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Genetic Research ◽  
The Impact

Morphological Presentation of Orofacial Clefts: An Epidemiological Study of 5004 Patients in a Tertiary Care Hospital of Central India

2021 ◽  
pp. 105566562110577
Author(s):  
Jaideep Singh Chauhan ◽  
Sarwpriya Sharma
Keyword(s):  
Cleft Palate ◽  
Epidemiological Study ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Tertiary Care ◽  
Central India ◽  
Care Hospital ◽  
Orofacial Clefts ◽  
Chi Square ◽  
The Right

Objective: To analyse the morphological presentation of orofacial clefts, gender, syndromes and systemic anomalies associated with them. Design: This was an epidemiological study performed in the patients who were registered for cleft lip and palate surgeries in our centre. The data was evaluated both retrospectively as well as prospectively. Patients/ Participants: The patients registered from November 2006 to April 2021 were studied. Out of 5276 patients, data of 5004 cases were analysed, rest 272 patients were excluded due to lack of information. Statistical analysis and Chi square test were applied. Results: Cleft deformities were more common in males than females. Cleft lip with palate was the commonest phenotype (52.2%). It was followed by isolated cleft lip (22.9%), isolated cleft palate (22.1%), rare clefts (1.62%) and syndromic clefts (1.18%). Unilateral variants were more frequent than bilateral. In unilateral, left side was more common than the right side. Among bilateral, most of the cases had premaxillary protrusion. In the present study, 3.46% of all the patients had associated anomalies affecting their other organs. Less common cleft phenotypes like microform cleft lip and submucous cleft palate ± bifid uvula showed frequency of 0.62% and 0.64% respectively. Conclusion: Thorough examination of cleft deformity should be done as it may appear as an isolated deformity or part of a syndrome and have associated systemic anomalies. This may help us to deliver comprehensive care to the patients and can prevent potential operative complications.

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