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      Prevalence of cleft lip and/or cleft palate in Guangdong province, China, 2015–2018: a spatio-temporal descriptive analysis

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          Abstract

          Objectives

          This study aimed to investigate the temporal and spatial characteristics of cleft lip and/or palate based on a large-scale birth defect monitoring database.

          Methods

          Data on perinatal infants and children with cleft lip and/or palate defects from 1 January 2015 to 31 December 2018 in Guangdong province of China were collected. The variables including the demographic data, basic family information (address, education level, etc.), the infant’s birth weight, gender and other basic parameters were collected and analysed.

          Results

          During the study period, the prevalence of cleft lip and/or palate was 7.55 per 10 000 perinatal infants. The prevalence of cleft lip, cleft palate and cleft lip and palate were 2.34/10 000, 2.22/10 000 and 2.98/10 000, respectively. The prevalence of cleft lip and/or palate showed a pronounced downward trend, reducing from 8.47/10 000 in 2015 to 6.51/10 000 in 2018. We observed spatial heterogeneity of prevalence of cleft lip and/or palate across the study period in Guangdong. In the Pearl River Delta region, the overall prevalence of cleft lip and/or palate was 7.31/10 000, while the figure (7.86/10 000) was slightly higher in the non-Pearl River Delta region (p<0.05). Concerning infant gender, the prevalence was in general higher in boys than girls (p<0.05). In addition, the higher prevalence was more common in mothers older than 35 years old. For the birth season, infants born in spring tended to have a higher prevalence than those born in other seasons, regardless of the prevalence of cleft lip and palate calculated separately or jointly (p<0.05). The majority of newborns with cleft lip and palate were accompanied by other birth defects.

          Conclusion

          This study contributes a better understanding of the characteristics of spatio-temporal trends for birth defects of cleft lip and/or palate in south China.

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          Most cited references40

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          Genetics of cleft lip and cleft palate.

          Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with these birth defects and their family members: from subclinical phenotypes to associated syndromic features that is mirrored by the many genes that contribute to the etiology of these disorders. Identification of these genes and loci has been the result of decades of research using multiple genetic approaches. Significant progress has been made recently due to advances in sequencing and genotyping technologies, primarily through the use of whole exome sequencing and genome-wide association studies. Future progress will hinge on identifying functional variants, investigation of pathway and other interactions, and inclusion of phenotypic and ethnic diversity in studies. © 2013 Wiley Periodicals, Inc.
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            The impact of orofacial clefts on quality of life and healthcare use and costs.

            Orofacial clefts are common birth defects that may impose a large burden on the health, quality of life, and socioeconomic well-being of affected individuals and families. They also result in significant healthcare use and costs. Understanding the impact of orofacial clefts on these outcomes is important for identifying unmet needs and developing public policies to reduce the burden of orofacial clefts at the individual, family and societal levels. This paper reviews and summarizes the main findings of recent studies that have evaluated the impact of orofacial clefts on these outcomes, with a focus on quality of life, socioeconomic outcomes, long-term health, and healthcare use and costs. Several studies identify an increased burden of orofacial clefts on these outcomes, but some of the findings are inconsistent. A summary of the primary limitations of the studies in this area is presented, along with recommendations and directions for future research.
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              Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity

              Non-syndromic cleft lip with palate (NSCLP) is the most serious sub-phenotype of non-syndromic orofacial clefts (NSOFC), which are the most common craniofacial birth defects in humans. Here we conduct a GWAS of NSCLP with multiple independent replications, totalling 7,404 NSOFC cases and 16,059 controls from several ethnicities, to identify new NSCLP risk loci, and explore the genetic heterogeneity between sub-phenotypes of NSOFC. We identify 41 SNPs within 26 loci that achieve genome-wide significance, 14 of which are novel (RAD54B, TMEM19, KRT18, WNT9B, GSC/DICER1, PTCH1, RPS26, OFCC1/TFAP2A, TAF1B, FGF10, MSX1, LINC00640, FGFR1 and SPRY1). These 26 loci collectively account for 10.94% of the heritability for NSCLP in Chinese population. We find evidence of genetic heterogeneity between the sub-phenotypes of NSOFC and among different populations. This study substantially increases the number of genetic susceptibility loci for NSCLP and provides important insights into the genetic aetiology of this common craniofacial malformation.
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                Author and article information

                Journal
                BMJ Open
                BMJ Open
                bmjopen
                bmjopen
                BMJ Open
                BMJ Publishing Group (BMA House, Tavistock Square, London, WC1H 9JR )
                2044-6055
                2021
                2 August 2021
                : 11
                : 8
                : e046430
                Affiliations
                [1 ]Guangdong Women and Children Hospital , Guangzhou, Guangdong, China
                [2 ]departmentDepartment of Preventive Medicine , Shantou University Medical College , Shantou, China
                [3 ]Boai Hospital of Zhongshan , Zhongshan, China
                Author notes
                [Correspondence to ] Fenghua Liu; liushine2020@ 123456163.com ; Pi Guo; pguo@ 123456stu.edu.cn

                YZ, HM, QZ and BL are joint first authors.

                Author information
                http://orcid.org/0000-0002-2376-7111
                Article
                bmjopen-2020-046430
                10.1136/bmjopen-2020-046430
                8330564
                34341041
                8f1ec73d-fbe3-4c79-972b-80e31e1f31c5
                © Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

                This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See:  http://creativecommons.org/licenses/by-nc/4.0/.

                History
                : 02 November 2020
                : 17 July 2021
                Funding
                Funded by: FundRef http://dx.doi.org/10.13039/501100001809, National Natural Science Foundation of China;
                Award ID: 2018YFC1002604
                Categories
                Epidemiology
                1506
                1692
                Original research
                Custom metadata
                unlocked

                Medicine
                paediatrics,community child health,developmental neurology & neurodisability
                Medicine
                paediatrics, community child health, developmental neurology & neurodisability

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