Prenatal diagnosis of severe structural congenital malformations in Europe
E. Garne,Maria Loane,Helen Dolk,C. De Vigan,Gioacchino Scarano,David Tucker,Claude Stoll,Blanca Gener,Anna Pierini,Vera Nelen,C. Rösch,Yves Gillerot,Maria Feijoo,R. Tincheva,Annette Queisser-Luft,Marie-Claude Addor,C. Mosquera,Miriam Gatt,Ingeborg Barišić +18 more
TLDR
To assess at a population‐based level the frequency with which severe structural congenital malformations are detected prenatally in Europe and the gestational age at detection, and to describe regional variation in these indicators.Abstract:
Objectives
To assess at a population-based level the frequency with which severe structural congenital malformations are detected prenatally in Europe and the gestational age at detection, and to describe regional variation in these indicators.
Methods
In the period 1995–1999, data were obtained from 17 European population-based registries of congenital malformations (EUROCAT). Included were all live births, fetal deaths and terminations of pregnancy diagnosed with one or more of the following malformations: anencephalus, encephalocele, spina bifida, hydrocephalus, transposition of great arteries, hypoplastic left heart, limb reduction defect, bilateral renal agenesis, diaphragmatic hernia, omphalocele and gastroschisis.
Results
The 17 registries reported 4366 cases diagnosed with the 11 severe structural malformations and of these 2300 were live births (53%), 181 were fetal deaths (4%) and 1863 were terminations of pregnancy (43%); in 22 cases pregnancy outcome was unknown. The overall prenatal detection rate was 64% (range, 25–88% across regions). The proportion of terminations of pregnancy varied between regions from 15% to 59% of all cases. Gestational age at discovery for prenatally diagnosed cases was less than 24 weeks for 68% (range, 36–88%) of cases. There was a significant relationship between high prenatal detection rate and early diagnosis (P < 0.0001). For individual malformations, the prenatal detection rate was highest for anencephalus (469/498, 94%) and lowest for transposition of the great arteries (89/324, 27%). Termination of pregnancy was performed in more than half of the prenatally diagnosed cases, except for those with transposition of the great arteries, diaphragmatic hernia and gastroschisis, in which 30–40% of the pregnancies with a prenatal diagnosis were terminated.
Conclusion
European countries currently vary widely in the provision and uptake of prenatal screening and its quality, as well as the ‘culture’ in terms of decision to continue the pregnancy. This inevitably contributes to variation between countries in perinatal and infant mortality and in childhood prevalence and cost to health services of congenital anomalies. Copyright © 2004 ISUOG. Published by John Wiley & Sons, Ltd.read more
Citations
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Book ChapterDOI
The prevalence of congenital anomalies in Europe.
TL;DR: Primary prevention of congenital anomalies in the population based on controlling environmental risk factors is a crucial policy priority, including preconceptional care and whole population approaches.
Journal ArticleDOI
Etiology, pathogenesis and prevention of neural tube defects
TL;DR: It is suggested that a multitude of genes, growth factors and receptors interact in controlling neural tube development by yet unknown mechanisms, and future studies must address issues of gene‐gene, gene‐nutrient and gene–environment interactions in the pathogenesis of NTD.
Journal ArticleDOI
Global Birth Prevalence of Spina Bifida by Folic Acid Fortification Status: A Systematic Review and Meta-Analysis
Callie Atta,Kirsten M. Fiest,Alexandra D. Frolkis,Nathalie Jette,Tamara Pringsheim,Christine St. Germaine-Smith,Thilinie Rajapakse,Gilaad G. Kaplan,Amy Metcalfe +8 more
TL;DR: This extensive literature review shows that spina bifida is significantly more common in world regions without government legislation regulating full-coverage folic Acid fortification of the food supply and that mandatory folic acid fortification resulted in a lower prevalence of spina Bifida regardless of the type of birth cohort.
Journal ArticleDOI
Long term trends in prevalence of neural tube defects in Europe: population based study
Babak Khoshnood,Maria Loane,Hermien E. K. de Walle,Larraitz Arriola,Marie-Claude Addor,Ingeborg Barišić,Judit Béres,Fabrizio Bianchi,Carlos Matias Dias,Elizabeth S Draper,Ester Garne,Miriam Gatt,Martin Haeusler,Kari Klungsøyr,Anna Latos-Bielenska,Catherine Lynch,Bob McDonnell,Vera Nelen,Amanda J. Neville,Mary O'Mahony,Annette Queisser-Luft,Judith Rankin,Anke Rissmann,Annukka Ritvanen,Catherine Rounding,Antonin Sipek,David Tucker,Christine Verellen-Dumoulin,Diana Wellesley,Helen Dolk +29 more
TL;DR: In the absence of mandatory fortification, the prevalence of NTD has not decreased in Europe despite longstanding recommendations aimed at promoting peri-conceptional folic acid supplementation and existence of voluntary folic Acid fortification.
Journal ArticleDOI
Global hydrocephalus epidemiology and incidence: systematic review and meta-analysis.
Michael C. Dewan,Michael C. Dewan,Abbas Rattani,Abbas Rattani,Rania A. Mekary,Rania A. Mekary,Laurence Glancz,Ismaeel Yunusa,Ismaeel Yunusa,Ronnie E. Baticulon,Graham Fieggen,John C. Wellons,Kee B. Park,Benjamin C. Warf,Benjamin C. Warf +14 more
TL;DR: For the first time in a global model, the annual incidence of pediatric hydrocephalus is estimated and low- and middle-income countries incur the greatest burden of disease, particularly those within the African and Latin American regions.
References
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