Dataset Information

The live-birth prevalence of mucopolysaccharidoses in Estonia.

ABSTRACT: Previous studies on the prevalence of mucopolysaccharidoses (MPS) in different populations have shown considerable variations. There are, however, few data with regard to the prevalence of MPSs in Fenno-Ugric populations or in north-eastern Europe, except for a report about Scandinavian countries. A retrospective epidemiological study of MPSs in Estonia was undertaken, and live-birth prevalence of MPS patients born between 1985 and 2006 was estimated. The live-birth prevalence for all MPS subtypes was found to be 4.05 per 100,000 live births, which is consistent with most other European studies. MPS II had the highest calculated incidence, with 2.16 per 100,000 live births (4.2 per 100,000 male live births), forming 53% of all diagnosed MPS cases, and was twice as high as in other studied European populations. The second most common subtype was MPS IIIA, with a live-birth prevalence of 1.62 in 100,000 live births. With 0.27 out of 100,000 live births, MPS VI had the third-highest live-birth prevalence. No cases of MPS I were diagnosed in Estonia, making the prevalence of MPS I in Estonia much lower than in other European populations. MPSs are the third most frequent inborn error of metabolism in Estonia after phenylketonuria and galactosemia.

SUBMITTER: Krabbi K

PROVIDER: S-EPMC3422553 | biostudies-literature | 2012 Aug

REPOSITORIES: biostudies-literature

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The live-birth prevalence of mucopolysaccharidoses in Estonia.

Krabbi Külliki K Joost Kairit K Zordania Riina R Talvik Inga I Rein Reet R Huijmans Jan G M JG Verheijen Frans V FV Õunap Katrin K

Genetic testing and molecular biomarkers 20120405 8

Previous studies on the prevalence of mucopolysaccharidoses (MPS) in different populations have shown considerable variations. There are, however, few data with regard to the prevalence of MPSs in Fenno-Ugric populations or in north-eastern Europe, except for a report about Scandinavian countries. A retrospective epidemiological study of MPSs in Estonia was undertaken, and live-birth prevalence of MPS patients born between 1985 and 2006 was estimated. The live-birth prevalence for all MPS subtyp ...[more]

PMID: 22480138

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Project description:BackgroundIn this study, the prevalence of different types of mucopolysaccharidoses (MPS) was estimated based on data from the exome aggregation consortium (ExAC) and the genome aggregation database (gnomAD). The population-based allele frequencies were used to identify potential disease-causing variants on each gene related to MPS I to IX (except MPS II).MethodsWe evaluated the canonical transcripts and excluded homozygous, intronic, 3', and 5' UTR variants. Frameshift and in-frame insertions and deletions were evaluated using the SIFT Indel tool. Splice variants were evaluated using SpliceAI and Human Splice Finder 3.0 (HSF). Loss-of-function single nucleotide variants in coding regions were classified as potentially pathogenic, while synonymous variants outside the exon-intron boundaries were deemed non-pathogenic. Missense variants were evaluated by five in silico prediction tools, and only those predicted to be damaging by at least three different algorithms were considered disease-causing.ResultsThe combined frequencies of selected variants (ranged from 127 in GNS to 259 in IDUA) were used to calculate prevalence based on Hardy-Weinberg's equilibrium. The maximum estimated prevalence ranged from 0.46 per 100,000 for MPSIIID to 7.1 per 100,000 for MPS I. Overall, the estimated prevalence of all types of MPS was higher than what has been published in the literature. This difference may be due to misdiagnoses and/or underdiagnoses, especially of the attenuated forms of MPS. However, overestimation of the number of disease-causing variants by in silico predictors cannot be ruled out. Even so, the disease prevalences are similar to those reported in diagnosis-based prevalence studies.ConclusionWe report on an approach to estimate the prevalence of different types of MPS based on publicly available population-based genomic data, which may help health systems to be better prepared to deal with these conditions and provide support to initiatives on diagnosis and management of MPS.

Project description:BACKGROUND:More than one third of the neonatal deaths at Neonatal Intensive Care Unit (NICU) in Debre Tabor General Hospital (DTGH) are attributable to birth asphyxia. Most of these neonates are referred from the maternity ward in the hospital. Concerns have also been raised regarding delayed intrapartum decisions for emergency obstetrics action in the hospital. However, there has been no recent scientific evidence about the exact burden of birth asphyxia and its specific determinants among live births at maternity ward of DTGH. Moreover, the public health importance of delivery time and professional mix of labor attendants haven't been addressed in the prior studies. METHODS:Hospital based cross sectional study was conducted on a sample of 582 mother newborn dyads at maternity ward. Every other mother newborn dyad was included from December 2019 to March 2020. Pre-tested structured questionnaire and checklist were used for data collection. The collected data were processed and entered into Epidata version 4.2 and exported to Stata version 14. Binary logistic regressions were fitted and statistical significance was declared at p less than 0.05 with 95% CI. RESULTS:The prevalence of birth asphyxia was 28.35% [95% CI: 26.51, 35.24%]. From the final model, fetal mal-presentation (AOR?=?6.96: 3.16, 15.30), premature rupture of fetal membranes (AOR?=?6.30, 95% CI: 2.45, 16.22), meconium stained amniotic fluid (AOR?=?7.15: 3.07, 16.66), vacuum delivery (AOR =6.21: 2.62, 14.73), night time delivery (AOR?=?6.01: 2.82, 12.79) and labor attendance by medical interns alone (AOR?=?3.32:1.13, 9.78) were positively associated with birth asphyxia at 95% CI. CONCLUSIONS:The prevalence of birth asphyxia has remained a problem of public health importance in the study setting. Therefore, the existing efforts of emergency obstetric and newborn care should be strengthened to prevent birth asphyxia from the complications of fetal mal-presentation, premature rupture of fetal membranes, meconium stained amniotic fluid and vacuum delivery. Moreover, night time deliveries and professional mixes of labor and/delivery care providers should be given more due emphasis.

Dataset Information

The live-birth prevalence of mucopolysaccharidoses in Estonia.

Publications

The live-birth prevalence of mucopolysaccharidoses in Estonia.

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