Estimated birth prevalence of mucopolysaccharidoses in Brazil.

Several studies have been published on the frequency of the mucopolysaccharidoses (MPS) in different countries. The objective of the present study was to estimate the birth prevalence (BP) of MPS in Brazil. MPS diagnosis registered at MPS-Brazil Network and in Instituto Vidas Raras were reviewed. BP was estimated by (a) the number of registered patients born between 1994 and 2015 was divided by the number of live births (LBs), and (b) a sample of 1,000 healthy individuals was tested for the most frequent variant in IDUA gene in MPS I (p.Trp402Ter) to estimate the frequency of heterozygosity and homozygosity. (a) The BP based on total number of LBs was (cases per 100,000 LBs): MPS overall: 1.25; MPS I: 0.24; MPS II: 0.37; MPS III: 0.21; MPS IV: 0.14; MPS VI: 0.28; MPS VII: 0.02. (b) The overall frequency of p.Trp402Ter was 0.002. Considering the frequency of heterozygotes for the p.Trp402Ter IDUA variant in the RS state, the frequency of this variant among MPS I patients and the relative frequency of the different MPSs, we estimated the birth prevalence of MPS in total and of each MPS type, as follows: MPS overall: 4.62; MPS I: 0.95; MPS II: 1.32; MPS III: 0.56; MPS IV: 0.57; MPS VI: 1.02; MPS VII: 0.05. This study provided original data about BP and relative frequency of the MPS types, in Brazil, based on the frequency of the commonest IDUA pathogenic variant and in the records of two large patient databases.

Analysis of the Prevalence and Incidence of Cleft Lip and Palate in Colombia.

OBJECTIVE: To analyze the population prevalence and birth prevalence of oral clefts in Colombia from 2009 to 2017. METHODS: A cross-sectional study using information from the National Administrative Records of Colombia. The data came from 2 types of administrative records (Surveillance System and the Individual Registry of Service Provision) and the oral health national survey. Population prevalence and birth prevalence by type of cleft lip and/or cleft (CL/P) ratios were calculated using Poisson distribution for count data and to assess stationary tests on time series (Dickey-Fuller) and (Phillips-Perron) was used. RESULTS: Population prevalence in Colombia was 3.27 per 10 000 inhabitants (95% confidence interval [CI], 3.21-3.32) and birth prevalence was 6.0 per 10 000 live births (95% CI, 5.67-6.35). Bogotá have the highest population prevalence with CL/P. In the analysis of trends for the prevalence proportion by type of clefts in newborn babies with cleft, it was observed that the highest proportion was for babies with CLP. Cleft lip (CL) has increased from 17.4% in 2014 to 34.2% in 2017, cleft palate (CP) has decreased from 32.9% to 20.2%; and CLP changed from 49.6% to 45.5% in the same period. CONCLUSIONS: The population prevalence was 3.27 per 10 000 inhabitants. Births prevalence was 6.0 per 10 000 live births, and Orinoquia and Amazonia have higher rates than the national average. The administrative registers are adequate systems to know the behavior of oral clefts. The CL/P had a nonstationary trend during the period 2014 to 2017.

Geographic clusters of congenital anomalies in Argentina.

Geographical clusters are defined as the occurrence of an unusual number of cases higher than expected in a given geographical area in a certain period of time. The aim of this study was to identify potential geographical clusters of specific selected congenital anomalies (CA) in Argentina. The cases were ascertained from 703,325 births, examined in 133 maternity hospitals in the 24 provinces of Argentina. We used the spatial scan statistic to determine areas of Argentina which had statistically significant elevations of prevalence. Prenatal diagnosis followed by referral of high-risk pregnancies to high complexity hospitals in a hospital-based surveillance system can create artifactual clusters. We assessed the referral bias by evaluating the prevalence heterogeneity within each cluster. Eight clusters of selected CAs with unusually high birth prevalence were identified: anencephaly, encephalocele, spina bifida, diaphragmatic hernia, talipes equinovarus, omphalocele, Cleft lip with or without cleft palate (CL/P), and Down syndrome. The clusters of Down syndrome and CL/P observed in this study match the previously reported clusters. These findings support local targeted interventions to lower the prevalence of the CAs and/or further research on the cause of each cluster. The clusters of spina bifida, anencephaly, encephalocele, omphalocele, congenital diaphragmatic hernia, and talipes equinovarus may be influenced by prenatal diagnosis and referral to high complexity hospitals.

Prevalence of Sickle Cell Disease among Newborns in St Vincent and the Grenadines: A Retrospective Study.

Objective: In the United States of America (USA), sickle cell disease (SCD) occurs in 1:375 African-American births. However, published data from the Caribbean have revealed higher numbers for some Caribbean islands. St Vincent and the Grenadines (SVG) is a multi-island nation in the Caribbean, and there are currently no data on the incidence or prevalence of the disease in this population. The objective of this study was to obtain birth prevalence estimates for SCD in SVG. Methods: A retrospective review of haemoglobin electrophoresis test results at the laboratory of the main hospital in SVG for the period of October 1, 2005 to December 31, 2013 was done. Test results and demographic data were extracted to determine the estimated birth prevalence of SCD. Results: The estimated birth prevalence of SCD was found to be 1:172 live births, and 86% of the patients were diagnosed after one year of age. Conclusion: The birth prevalence of SCD in SVG was higher than those in the USA, but was similar to the numbers in other Caribbean populations.

Objetivo: En los Estados Unidos de América (EE.UU.), la enfermedad de células falciformes (ECF) ocurre en 1:375 de los nacimientos de afroamericanos. Sin embargo, los datos publicados en el Caribe revelan un número mayor para algunas islas del Caribe. San Vicente y las Granadinas (SVG) es una nación formada por varias islas en el Caribe, y actualmente no existen datos sobre la incidencia o prevalencia de la enfermedad en esta población. El objetivo de este estudio fue obtener estimados de la prevalencia de nacimientos con ECF en SVG. Métodos: Se realizó una revisión retrospectiva de los resultados de pruebas de electroforesis de hemoglobina en el laboratorio del hospital principal de SVG, correspondientes al período de 1 de octubre de 2005 a 31 de diciembre de 2013. Los resultados de la prueba y los datos demográfcos se obtuvieron para hacer un estimado de la prevalencia de nacimientos con ECF. Resultados: Se halló que la prevalencia estimada de nacimientos con ECF fue de 1:172 por nacidos vivos, y que el 86% de los pacientes fueron diagnosticados después de un año de edad. Conclusión: La prevalencia de nacimientos con EFC en SVG fue más alta que la de los EE.UU., pero similar a las estadísticas en otras poblaciones del Caribe.

Descriptive analysis of high birth prevalence rate geographical clusters of congenital anomalies in South America.

BACKGROUND: The birth prevalence rate (BPR) of congenital anomalies (CAs) is heterogeneous and exhibits geographical and sociocultural variations throughout the world. In South America (SA), high birth prevalence regions of congenital anomalies have been observed. The aim of this study was to identify, describe, and characterize geographical clusters of congenital anomalies in SA. METHODS: This observational descriptive study is based on clinical epidemiological data registered by the Latin-American Collaborative Study of Congenital Malformations network. Between 1995 and 2012, a total of 25,082 malformed newborns were ascertained from 2,557,424 births at 129 hospitals in SA. The spatial scan statistic was used to determine geographical regions with high BPR of CAs. The BPR was obtained with a Poisson regression model. Odds ratios were estimated for several risk factors inside the geographical clusters. RESULTS: We confirmed the existence of high BPR regions of CAs in SA. Indicators of low socioeconomic conditions, such as a low maternal education, extreme age childbearing, infectious diseases, and medicine use during pregnancy were detected as risk factors inside these regions. Native and African ancestries with high frequency of consanguineous marriages could explain partially these high BPR clusters. CONCLUSION: The recognition of clusters could be a starting point in the identification of susceptibility genes associated with the occurrence of CA in high BPR regions.