Epidemiological insights into neural tube and orofacial malformations in Chile using data from the National Registry of Congenital Anomalies (RENACH)

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dc.article.number862
dc.catalogadoryvc
dc.contributor.authorBusso, Dolores
dc.contributor.authorJiménez, Fernanda
dc.contributor.authorGonzález, María Josefina
dc.contributor.authorCárcamo, Marcela
dc.contributor.authorMosso Gómez, Lorena Montserrat
dc.date.accessioned2025-11-24T16:38:28Z
dc.date.available2025-11-24T16:38:28Z
dc.date.issued2025
dc.date.updated2025-10-30T08:54:48Z
dc.description.abstractBackground Congenital anomalies affect approximately 6% of global births annually and contribute significantly to infant mortality and long-term disability. Low folate status has been linked to malformations such as neural tube defects (NTDs) and orofacial clefts (OFCs). This work aimed to estimate the national prevalence of these two groups of malformations in Chile, a country subjected to mandatory folic acid fortification of flour. We also analyzed the sex dimorphism of the NTD and OFC and described the main associated comorbidities. Methods In this cross-sectional descriptive study, we used data from the Chilean National Registry of Congenital Anomalies (2016–2017) to analyze NTD and OFC prevalence and sex bias. Results The study included 3,376 records, revealing a total of 7.63/10,000 births for NTD patients and 12.01/10,000 for OFC patients. Anencephaly and cleft lip/palate were the most prevalent subtypes in the NTD and OFC. Sex-related differences were noted, with a significantly greater prevalence of cleft lip/palate and cleft lip in males and a tendency toward a greater prevalence of anencephaly in females. Approximately 70% of NTD cases were isolated; associated malformations primarily involved the nervous, musculoskeletal, and facial systems. Isolated OFC accounted for 77% of cases, with musculoskeletal and neurological malformations being the most frequently associated. Conclusions NTD and OFC prevalence and sex-specific variations are consistent with estimates in countries that apply mandatory folic acid fortification policies. This study provides valuable insights into the epidemiology of NTDs and OFCs in Chile and emphasizes the importance of ongoing surveillance through standardized data collection.
dc.description.funderANID Programs "National Competition for Research and Development in Health" (FONIS #SA 19I0039); FONDECYT National Fund for Scientific and Technological Development No. 1221376 (to D.B.); Basal Funding for Scientific and Technological Center of Excellence, IMPACT, No. FB210024 (to D.B.).
dc.fechaingreso.objetodigital2025-10-30
dc.format.extent8 páginas
dc.fuente.origenAutoarchivo
dc.identifier.citationBMC Pediatrics. 2025 Oct 24;25(1):862
dc.identifier.urihttps://doi.org/10.1186/s12887-025-05999-6
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/107096
dc.information.autorucEscuela de Medicina; Mosso Gómez, Lorena Montserrat; 0000-0001-5420-7099; 88201
dc.issue.numero1
dc.language.isoen
dc.nota.accesocontenido completo
dc.revistaBMC Pediatrics
dc.rightsacceso abierto
dc.rights.holderThe Author(s)
dc.rights.licenseBY NC ND Atribución-NoComercial-SinDerivadas 4.0 Internacional
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectOrofacial clefts
dc.subjectNeural tube defects
dc.subjectRENACH malformation national surveillance
dc.subjectChile
dc.subject.ddc610
dc.titleEpidemiological insights into neural tube and orofacial malformations in Chile using data from the National Registry of Congenital Anomalies (RENACH)
dc.typeartículo
dc.volumen25
sipa.codpersvinculados88201
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