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Maternal risk factors for the VACTERL association: A EUROCAT case-control study.
van de Putte R, van Rooij IALM, Haanappel CP, Marcelis CLM, Brunner HG, Addor MC, Cavero-Carbonell C, Dias CM, Draper ES, Etxebarriarteun L, Gatt M, Khoshnood B, Kinsner-Ovaskainen A, Klungsoyr K, Kurinczuk JJ, Latos-Bielenska A, Luyt K, O'Mahony MT, Miller N, Mullaney C, Nelen V, Neville AJ, Perthus I, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wiesel A, Zymak-Zakutnia N, Loane M, Barisic I, de Walle HEK, Bergman JEH, Roeleveld N. van de Putte R, et al. Birth Defects Res. 2020 May 15;112(9):688-698. doi: 10.1002/bdr2.1686. Epub 2020 Apr 22. Birth Defects Res. 2020. PMID: 32319733 Free PMC article.
METHODS: A case-control study was performed using data from 28 EUROCAT registries over the period 1997-2015 with case and control ascertainment through hospital records, birth and death certificates, questionnaires, and/or postmortem examinations. ...
METHODS: A case-control study was performed using data from 28 EUROCAT registries over the period 1997-2015 with case and control asc …
Multilevel analyses of related public health indicators: The European Surveillance of Congenital Anomalies (EUROCAT) Public Health Indicators.
Best KE, Rankin J, Dolk H, Loane M, Haeusler M, Nelen V, Verellen-Dumoulin C, Garne E, Sayers G, Mullaney C, O'Mahony MT, Gatt M, De Walle H, Klungsoyr K, Carolla OM, Cavero-Carbonell C, Kurinczuk JJ, Draper ES, Tucker D, Wellesley D, Zymak-Zakutnia N, Lelong N, Khoshnood B. Best KE, et al. Paediatr Perinat Epidemiol. 2020 Mar;34(2):122-129. doi: 10.1111/ppe.12655. Paediatr Perinat Epidemiol. 2020. PMID: 32101337 Free PMC article.
METHODS: We included 55 363 cases of congenital anomalies notified to 18 EUROCAT registers in 10 countries during 2008-12. Incidence rate ratios (IRR) representing the risk of congenital anomaly-related perinatal mortality according to TOPFA and prenatal diagnosis prevalen …
METHODS: We included 55 363 cases of congenital anomalies notified to 18 EUROCAT registers in 10 countries during 2008-12. Incidence …
Analysis of Mortality among Neonates and Children with Spina Bifida: An International Registry-Based Study, 2001-2012.
Bakker MK, Kancherla V, Canfield MA, Bermejo-Sanchez E, Cragan JD, Dastgiri S, De Walle HEK, Feldkamp ML, Groisman B, Gatt M, Hurtado-Villa P, Kallen K, Landau D, Lelong N, Lopez Camelo JS, Martínez L, Morgan M, Mutchinick OM, Nembhard WN, Pierini A, Rissmann A, Sipek A, Szabova E, Tagliabue G, Wertelecki W, Zarante I, Mastroiacovo P. Bakker MK, et al. Paediatr Perinat Epidemiol. 2019 Nov;33(6):436-448. doi: 10.1111/ppe.12589. Epub 2019 Oct 21. Paediatr Perinat Epidemiol. 2019. PMID: 31637749 Free PMC article. Clinical Trial.
Cases of spina bifida that resulted in livebirths or stillbirths from 20 weeks' gestation or elective termination of pregnancy for fetal anomaly (ETOPFA) were included. ...
Cases of spina bifida that resulted in livebirths or stillbirths from 20 weeks' gestation or elective termination of pregnancy for fetal
Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis.
Goel N, Morris JK, Tucker D, de Walle HEK, Bakker MK, Kancherla V, Marengo L, Canfield MA, Kallen K, Lelong N, Camelo JL, Stallings EB, Jones AM, Nance A, Huynh MP, Martínez-Fernández ML, Sipek A, Pierini A, Nembhard WN, Goetz D, Rissmann A, Groisman B, Luna-Muñoz L, Szabova E, Lapchenko S, Zarante I, Hurtado-Villa P, Martinez LE, Tagliabue G, Landau D, Gatt M, Dastgiri S, Morgan M. Goel N, et al. Am J Med Genet A. 2019 Dec;179(12):2382-2392. doi: 10.1002/ajmg.a.61365. Epub 2019 Sep 30. Am J Med Genet A. 2019. PMID: 31566869 Free PMC article.
., LB, stillbirths, and elective termination of pregnancy for fetal anomalies [ETOPFA]) in the registers with ETOPFA (n = 15) for T13 was 1.68 (95% CI 1.3-2.06), and for T18 was 4.08 (95% CI 3.01-5.15), per 10,000 births. ...
., LB, stillbirths, and elective termination of pregnancy for fetal anomalies [ETOPFA]) in the registers with ETOPFA (n = 15) for T13 …
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.
van de Putte R, van Rooij IALM, Marcelis CLM, Guo M, Brunner HG, Addor MC, Cavero-Carbonell C, Dias CM, Draper ES, Etxebarriarteun L, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, Kurinczuk JJ, Lanzoni M, Latos-Bielenska A, Luyt K, O'Mahony MT, Miller N, Mullaney C, Nelen V, Neville AJ, Perthus I, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wiesel A, Zymak-Zakutnia N, Loane M, Barisic I, de Walle HEK, Roeleveld N, Bergman JEH. van de Putte R, et al. Pediatr Res. 2020 Feb;87(3):541-549. doi: 10.1038/s41390-019-0561-y. Epub 2019 Sep 9. Pediatr Res. 2020. PMID: 31499513
Diagnosing VACTERL patients is difficult, as many disorders have multiple features in common with VACTERL. The aims of this study were to clearly outline component features, describe the phenotypic spectrum among the largest group of VACTERL patients thus far report …
Diagnosing VACTERL patients is difficult, as many disorders have multiple features in common with VACTERL. The aims of this study wer …
Epidemiology of achondroplasia: A population-based study in Europe.
Coi A, Santoro M, Garne E, Pierini A, Addor MC, Alessandri JL, Bergman JEH, Bianchi F, Boban L, Braz P, Cavero-Carbonell C, Gatt M, Haeusler M, Klungsøyr K, Kurinczuk JJ, Lanzoni M, Lelong N, Luyt K, Mokoroa O, Mullaney C, Nelen V, Neville AJ, O'Mahony MT, Perthus I, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wisniewska K, Zymak-Zakutnia N, Barišić I. Coi A, et al. Am J Med Genet A. 2019 Sep;179(9):1791-1798. doi: 10.1002/ajmg.a.61289. Epub 2019 Jul 11. Am J Med Genet A. 2019. PMID: 31294928
We present the largest European population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. ...There were 350 live births, 82 terminations of pregnancy after prenatal diagnosis, and two fetal
We present the largest European population-based epidemiological study to date using data provided by the European Surveillance of Congenita …
Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study.
Morris JK, Wellesley DG, Barisic I, Addor MC, Bergman JEH, Braz P, Cavero-Carbonell C, Draper ES, Gatt M, Haeusler M, Klungsoyr K, Kurinczuk JJ, Lelong N, Luyt K, Lynch C, O'Mahony MT, Mokoroa O, Nelen V, Neville AJ, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker DF, Verellen-Dumoulin C, Wiesel A, Zymak-Zakutnia N, Lanzoni M, Garne E. Morris JK, et al. Arch Dis Child. 2019 Dec;104(12):1181-1187. doi: 10.1136/archdischild-2018-316733. Epub 2019 Jun 26. Arch Dis Child. 2019. PMID: 31243007 Clinical Trial.
DESIGN AND SETTING: Congenital cerebral anomalies (International Classification of Diseases, 10th Revision code Q04) recorded in 29 population-based EUROCAT registries conducting surveillance of 1.7 million births per annum (29% of all European births). PARTICIPANTS: All b …
DESIGN AND SETTING: Congenital cerebral anomalies (International Classification of Diseases, 10th Revision code Q04) recorded in 29 populati …
Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study.
Santoro M, Coi A, Barišić I, Garne E, Addor MC, Bergman JEH, Bianchi F, Boban L, Braz P, Cavero-Carbonell C, Gatt M, Haeusler M, Kinsner-Ovaskainen A, Klungsøyr K, Kurinczuk JJ, Lelong N, Luyt K, Materna-Kiryluk A, Mokoroa O, Mullaney C, Nelen V, Neville AJ, O'Mahony MT, Perthus I, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Yevtushok L, Pierini A. Santoro M, et al. Neuroepidemiology. 2019;53(3-4):169-179. doi: 10.1159/000501238. Epub 2019 Jul 12. Neuroepidemiology. 2019. PMID: 31302658
Chornobyl, radiation, neural tube defects, and microcephaly.
Wertelecki W, Yevtushok L, Kuznietsov I, Komov O, Lapchenko S, Akhmedzanova D, Ostapchuk L. Wertelecki W, et al. Eur J Med Genet. 2018 Sep;61(9):556-563. doi: 10.1016/j.ejmg.2018.06.005. Epub 2018 Jun 13. Eur J Med Genet. 2018. PMID: 29908351
Pregnant women residing in areas impacted by the Chornobyl ionizing radiation of the Rivne Province in Ukraine have persistent higher levels of incorporated cesium-137. ...The neural tube defects rates in Rivne are persistently among the highest in Europe....
Pregnant women residing in areas impacted by the Chornobyl ionizing radiation of the Rivne Province in Ukraine have persistent …
Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe.
Barisic I, Boban L, Akhmedzhanova D, Bergman JEH, Cavero-Carbonell C, Grinfelde I, Materna-Kiryluk A, Latos-Bieleńska A, Randrianaivo H, Zymak-Zakutnya N, Sansovic I, Lanzoni M, Morris JK. Barisic I, et al. Eur J Med Genet. 2018 Sep;61(9):499-507. doi: 10.1016/j.ejmg.2018.05.014. Epub 2018 May 31. Eur J Med Genet. 2018. PMID: 29753922
We present epidemiological and clinical aspects of patients with Beckwith Wiedemann syndrome diagnosed prenatally or in the early years of life, using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. ...There were 15 (4.0%) terminations of preg …
We present epidemiological and clinical aspects of patients with Beckwith Wiedemann syndrome diagnosed prenatally or in the early years of l …
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