249 results on '"Queisser-Luft A"'
Search Results
2. The Association of H1N1 Pandemic Influenza with Congenital Anomaly Prevalence in Europe : An Ecological Time Series Study
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Luteijn, Johannes Michiel, Addor, Marie-Claude, Arriola, Larraitz, Bianchi, Fabrizio, Garne, Ester, Khoshnood, Babak, Nelen, Vera, Neville, Amanda, Queisser-Luft, Annette, Rankin, Judith, Rounding, Catherine, Verellen-Dumoulin, Christine, de Walle, Hermien, Wellesley, Diana, Wreyford, Ben, Yevtushok, Lyubov, de Jong-van den Berg, Lolkje, Morris, Joan, and Dolk, Helen
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- 2015
3. Trends in congenital anomalies in Europe from 1980 to 2012.
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Joan K Morris, Anna L Springett, Ruth Greenlees, Maria Loane, Marie-Claude Addor, Larraitz Arriola, Ingeborg Barisic, Jorieke E H Bergman, Melinda Csaky-Szunyogh, Carlos Dias, Elizabeth S Draper, Ester Garne, Miriam Gatt, Babak Khoshnood, Kari Klungsoyr, Catherine Lynch, Robert McDonnell, Vera Nelen, Amanda J Neville, Mary O'Mahony, Anna Pierini, Annette Queisser-Luft, Hanitra Randrianaivo, Judith Rankin, Anke Rissmann, Jennifer Kurinczuk, David Tucker, Christine Verellen-Dumoulin, Diana Wellesley, and Helen Dolk
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Medicine ,Science - Abstract
BACKGROUND:Surveillance of congenital anomalies is important to identify potential teratogens. METHODS:This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980-2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. RESULTS:Seventeen anomaly subgroups had statistically significant trends from 2003-2012; 12 increasing and 5 decreasing. CONCLUSIONS:The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to 2.0%), 4.6% (1.0% to 8.2%), 3.4% (1.3% to 5.5%) and 4.1% (2.4% to 5.7%) respectively may reflect increases in maternal obesity and diabetes (known risk factors). The increased prevalence of cystic adenomatous malformation of the lung [6.5% (3.5% to 9.4%)] and decreased prevalence of limb reduction defects [-2.8% (-4.2% to -1.5%)] are unexplained. For renal dysplasia and maternal infections, increasing trends may be explained by increased screening, and deceases in patent ductus arteriosus at term and increases in craniosynostosis, by improved follow up period after birth and improved diagnosis. For oesophageal atresia, duodenal atresia/stenosis and ano-rectal atresia/stenosis recent changes in prevalence appeared incidental when compared with larger long term fluctuations. For microcephaly and congenital hydronephrosis trends could not be interpreted due to discrepancies in diagnostic criteria. The trends for club foot and syndactyly disappeared once registries with disparate results were excluded. No decrease in neural tube defects was detected, despite efforts at prevention through folic acid supplementation.
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- 2018
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4. Konnatale anatomische Entwicklungsstörungen
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Mundlos, S., Queisser-Luft, A., Lentze, Michael J., editor, Schulte, Franz J., editor, Schaub, Jürgen, editor, and Spranger, Jürgen, editor
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- 2007
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5. Epidemiology of hypospadias in Europe: a registry-based study
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Bergman, Jorieke E. H., Loane, Maria, Vrijheid, Martine, Pierini, Anna, Nijman, Rien J. M., Addor, Marie-Claude, Barisic, Ingeborg, Béres, Judit, Braz, Paula, Budd, Judith, Delaney, Virginia, Gatt, Miriam, Khoshnood, Babak, Klungsøyr, Kari, Martos, Carmen, Mullaney, Carmel, Nelen, Vera, Neville, Amanda J., O’Mahony, Mary, Queisser-Luft, Annette, Randrianaivo, Hanitra, Rissmann, Anke, Rounding, Catherine, Tucker, David, Wellesley, Diana, Zymak-Zakutnia, Natalya, Bakker, Marian K., and de Walle, Hermien E. K.
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- 2015
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6. Epidemiologie als Instrument in der Sozialpädiatrie
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von Kries, R., Dammann, O., Queißer-Luft, A., Lentze, Michael J., editor, Schulte, Franz J., editor, Schaub, Jürgen, editor, and Spranger, Jürgen, editor
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- 2003
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7. Kind und Gesellschaft
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Schlack, H. G., von Kries, R., Damman, O., Queißer-Luft, A., Hebestreit, H., Jüngst, B.-K., von Mühlendahl, K. E., Lenard, H. G., Poets, C. F., Lentze, Michael J., editor, Schaub, Jürgen, editor, Schulte, Franz J., editor, and Spranger, Jürgen, editor
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- 2001
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8. Pregnancy Protection Program in a Large Chemical Company: Infant Outcomes
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Frey, Gunild M., Ott, M. Gerald, Messerer, Peter, Nasterlack, Michael, Zober, Andreas, and Queißer-Luft, Annette
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- 2007
9. Pregnancy Protection Program in a Large Chemical Company: Design and Initial Survey Results
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Frey, Gunild M., Ott, M. Gerald, Messerer, Peter, Nasterlack, Michael, Queißer-Luft, Annette, and Zober, Andreas
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- 2007
10. Auswertungsstrategien des Registers 'Angeborene Morphologische Defekte Mainzer Modell'.
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K. Schlaefer and A. Queisser-Luft
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- 1994
11. Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study
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McGivern, Mark R, Best, Kate E, Rankin, Judith, Wellesley, Diana, Greenlees, Ruth, Addor, Marie-Claude, Arriola, Larraitz, de Walle, Hermien, Barisic, Ingeborg, Beres, Judit, Bianchi, Fabrizio, Calzolari, Elisa, Doray, Berenice, Draper, Elizabeth S, Garne, Ester, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, Latos-Bielenska, Anna, OʼMahony, Mary, Braz, Paula, McDonnell, Bob, Mullaney, Carmel, Nelen, Vera, Queisser-Luft, Anette, Randrianaivo, Hanitra, Rissmann, Anke, Rounding, Catherine, Sipek, Antonin, Thompson, Rosie, Tucker, David, Wertelecki, Wladimir, and Martos, Carmen
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- 2015
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12. Major Congenital Anomalies in Babies Born With Down Syndrome: A EUROCAT Population-Based Registry Study
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Morris, Joan K., Garne, Ester, Wellesley, Diana, Addor, Marie-Claude, Arriola, Larraitz, Barisic, Ingeborg, Beres, Judit, Bianchi, Fabrizio, Budd, Judith, Dias, Carlos Matias, Gatt, Miriam, Klungsoyr, Kari, Khoshnood, Babak, Latos-Bielenska, Anna, Mullaney, Carmel, Nelen, Vera, Neville, Amanda J., OʼMahony, Mary, Queisser-Luft, Annette, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Rounding, Cath, Sipek, Antonin, Stoianova, Sylvia, Tucker, David, de Walle, Hermien, Yevtushok, Lyubov, Loane, Maria, and Dolk, Helen
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- 2014
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13. Birth defects in the vicinity of nuclear power plants in Germany
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Queißer-Luft, Annette, Wiesel, Awi, Stolz, Gabriela, Mergenthaler, Andreas, Kaiser, Melanie, Schlaefer, Klaus, Wahrendorf, Jürgen, Blettner, Maria, and Spix, Claudia
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- 2011
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14. Maternal occupational exposure to ionizing radiation and birth defects
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Wiesel, Awi, Spix, Claudia, Mergenthaler, Andreas, and Queißer-Luft, Annette
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- 2011
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15. Epidemiologie von Fehlbildungen
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Queißer-Luft, A.
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- 2005
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16. Surveillance study of Sinupret in comparison with data of the Mainz birth registry
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Ismail, Chaim, Wiesel, Awi, März, Reinhard W., and Queisser-Luft, Annette
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- 2003
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17. Anorectal malformations and pregnancy-related disorders: a registry-based case–control study in 17 European regions
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Wijers, C HW, van Rooij, I ALM, Bakker, M K, Marcelis, C LM, Addor, M C, Barisic, I, Béres, J, Bianca, S, Bianchi, F, Calzolari, E, Greenlees, R, Lelong, N, Latos-Bielenska, A, Dias, C M, McDonnell, R, Mullaney, C, Nelen, V, OʼMahony, M, Queisser-Luft, A, Rankin, J, Zymak-Zakutnia, N, de Blaauw, I, Roeleveld, N, and de Walle, H EK
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- 2013
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18. Fraser Syndrome: Epidemiological Study in a European Population
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Barisic, Ingeborg, Odak, Ljubica, Loane, Maria, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Dolk, Helen, Addor, Marie-Claude, Arriola, Larraitz, Bergman, Jorieke, Bianca, Sebastiano, Boyd, Patricia A., Draper, Elizabeth S, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Latos-Bielenska, Anna, McDonnell, Bob, Pierini, Anna, Rankin, Judith, Rissmann, Anke, Queisser-Luft, Annette, Verellen-Dumoulin, Christine, Stone, David, and Tenconi, Romano
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- 2013
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19. Das Kind mit Behinderung in Familie und Gesellschaft
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Thyen, Ute, Hagedorn-Greiwe, M., and Queisser-Luft, A.
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- 2002
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20. Prä- und postnatales Nierenscreening im Vergleich: eine Analyse von 34.450 Neugeborenen des Geburtenregisters Mainzer Modell
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Stolz, G., Schumacher, R., Wiesel, A., Schlaefer, K., and Queißer-Luft, A.
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- 2002
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21. Malformations in newborn: results based on 30940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990–1998)
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Queißer-Luft, A., Stolz, G., Wiesel, A., Schlaefer, K., and Spranger, J.
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- 2002
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22. Klinisches Neugeborenenscreening zur Erfassung angeborener FehlbildungenErgebnisse und Perspektiven des Geburtenregisters Mainzer Modell: Ergebnisse und Perspektiven des Geburtenregisters Mainzer Modell
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Queißer-Luft, A., Wiesel, A., Stolz, G., Borck, G., Schlaefer, K., Zabel, B., and Spranger, J.
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- 2001
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23. Zum Konflikt zwischen Kindeswohl und elterlichem Wunschdenken: Gesundheitsrisiken bei assistierter Reproduktion
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Lenzen-Schulze, Martina, primary and Queisser-Luft, Annette, additional
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- 2006
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24. Trends and geographic inequalities in the prevalence of Down syndrome in Europe, 1980-1999
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Dolk, H., Loane, M., Garne, E., De Walle, H., Queisser-Luft, A., de Vigan, C., Addor, M.C., Gener, B., Haeusler, M., Jordan, H., Tucker, D., Stoll, C., Feijoo, M., Lillis, D., and Bianchi, F.
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- 2005
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25. Survival and Health in Liveborn Infants with Transposition of Great Arteries—A Population-based Study
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Garne, Ester, Loane, Maria A., Nelen, Vera, Bakker, Marian K., Gener, Blanca, Abramsky, Lenore, Addor, Marie-Claude, and Queisser-Luft, Annette
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- 2007
26. Prenatal diagnosis of severe structural congenital malformations in Europe
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GARNE, E., LOANE, M., DOLK, H., DE VIGAN, C., SCARANO, G., TUCKER, D., STOLL, C., GENER, B., PIERINI, A., NELEN, V., RÖSCH, C., GILLEROT, Y., FEIJOO, M., TINCHEVA, R., QUEISSER-LUFT, A., ADDOR, M.-C., MOSQUERA, C., GATT, M., and BARISIC, I.
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- 2005
27. Recent Decrease in the Prevalence of Congenital Heart Defects in Europe
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Khoshnood, Babak, Loane, Maria, Garne, Ester, Addor, Marie-Claude, Arriola, Larraitz, Bakker, Marian, Barisic, Ingeborg, Bianca, Sebastiano, Boyd, Patricia, Calzolari, Elisa, Doray, Berenice, Draper, Elizabeth, Gatt, Miriam, Haeusler, Martin, Melve, Kari Klungsoyr, Latos-Bielenska, Anna, McDonnell, Bob, Mullaney, Carmel, Nelen, Vera, OʼMahony, Mary, Pierini, Anna, Queisser-Luft, Annette, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Salvador, Joaquin, Tucker, David, Verellen-Dumoulin, Christine, Wellesley, Diana, Zymak-Zakutnya, Natalya, and Dolk, Helen
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- 2013
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28. Effects of dopamine infusion on plasma catecholamines in preterm and term newborn infants
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Stopfkuchen, H., Racké, K., Schwörer, H., Queißer-Luft, A., and Vogel, K.
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- 1991
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29. Congenital diastematomyelia in the upper thoracic spine. Diagnostic comparison of CT, CT-myelography, MRI, and US
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Brühl, Klaus, Schwarz, Manfred, Schumacher, Reinhard, Queisser-Luft, Annette, and Ludwig, Bernd
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- 1990
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30. The Association of H1N1 Pandemic Influenza with Congenital Anomaly Prevalence in Europe
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Annette Queisser-Luft, Amanda J. Neville, Catherine Rounding, Marie-Claude Addor, Ester Garne, Diana Wellesley, Hermien E. K. de Walle, Joan K. Morris, L. Arriola, Judith Rankin, Lyubov Yevtushok, Ben Wreyford, Fabrizio Bianchi, J.M. Luteijn, Christine Verellen-Dumoulin, Lolkje T. W. de Jong-van den Berg, Vera Nelen, Helen Dolk, Babak Khoshnood, and Reproductive Origins of Adult Health and Disease (ROAHD)
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Heart Septal Defects, Ventricular ,Pediatrics ,medicine.medical_specialty ,Epidemiology ,EPIDEMICS ,Prevalence ,CRITICAL PERIODS ,Context (language use) ,Disease ,ILLNESS ,medicine.disease_cause ,Tricuspid Atresia ,DISEASE ,Congenital Abnormalities ,Influenza A Virus, H1N1 Subtype ,Pregnancy ,Cystic Adenomatoid Malformation of Lung, Congenital ,Influenza, Human ,Pandemic ,Influenza A virus ,Humans ,Medicine ,Neural Tube Defects ,Registries ,Pregnancy Complications, Infectious ,Pandemics ,Tetralogy of Fallot ,RISK ,OUTCOMES ,business.industry ,ABNORMALITIES ,Infant, Newborn ,POLICIES ,medicine.disease ,Europe ,Vaccination ,VACCINATION ,Female ,Tricuspid Valve Stenosis ,business ,PREGNANT-WOMEN - Abstract
BACKGROUND: In the context of the European Surveillance of Congenital Anomalies (EUROCAT) surveillance response to the 2009 influenza pandemic, we sought to establish whether there was a detectable increase of congenital anomaly prevalence among pregnancies exposed to influenza seasons in general, and whether any increase was greater during the 2009 pandemic than during other seasons.METHODS: We performed an ecologic time series analysis based on 26,967 pregnancies with nonchromosomal congenital anomaly conceived from January 2007 to March 2011, reported by 15 EUROCAT registries. Analysis was performed for EUROCAT-defined anomaly subgroups, divided by whether there was a prior hypothesis of association with influenza. Influenza season exposure was based on World Health Organization data. Prevalence rate ratios were calculated comparing pregnancies exposed to influenza season during the congenital anomaly-specific critical period for embryo-fetal development to nonexposed pregnancies.RESULTS: There was no evidence for an increased overall prevalence of congenital anomalies among pregnancies exposed to influenza season. We detected an increased prevalence of ventricular septal defect and tricuspid atresia and stenosis during pandemic influenza season 2009, but not during 2007-2011 influenza seasons. For congenital anomalies, where there was no prior hypothesis, the prevalence of tetralogy of Fallot was strongly reduced during influenza seasons.CONCLUSIONS: Our data do not suggest an overall association of pandemic or seasonal influenza with congenital anomaly prevalence. One interpretation is that apparent influenza effects found in previous individual-based studies were confounded by or interacting with other risk factors. The associations of heart anomalies with pandemic influenza could be strain specific.
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- 2015
31. Trends in congenital anomalies in Europe from 1980 to 2012
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Jorieke E. H. Bergman, Ruth Greenlees, David Tucker, Miriam Gatt, Catherine Lynch, Christine Verellen-Dumoulin, Melinda Csáky-Szunyogh, Maria Loane, Ingeborg Barišić, Marie-Claude Addor, Elizabeth S Draper, Diana Wellesley, Helen Dolk, Larraitz Arriola, Kari Klungsøyr, Anke Rissmann, Anna Pierini, Jennifer J Kurinczuk, Joan K. Morris, Vera Nelen, Babak Khoshnood, Amanda J. Neville, Mary O'Mahony, Judith Rankin, Hanitra Randrianaivo, Carlos Matias Dias, Annette Queisser-Luft, R. McDonnell, Ester Garne, Anna Springett, and Reproductive Origins of Adult Health and Disease (ROAHD)
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Male ,Maternal Health ,Limb Reduction Defects ,lcsh:Medicine ,HEART-DEFECTS ,030204 cardiovascular system & hematology ,FOLIC-ACID FORTIFICATION ,Pathology and Laboratory Medicine ,Geographical Locations ,0302 clinical medicine ,EUROCAT ,Pregnancy ,Ductus arteriosus ,Prevalence ,Medicine and Health Sciences ,Morphogenesis ,030212 general & internal medicine ,Registries ,lcsh:Science ,Tetralogy of Fallot ,RISK ,Stenosis ,education.field_of_study ,Multidisciplinary ,Obstetrics ,Incidence (epidemiology) ,Obstetrics and Gynecology ,Heart ,ASSOCIATION ,Congenital Heart Defects ,Congenital Anomalies ,Europe ,POPULATION-BASED EVALUATION ,medicine.anatomical_structure ,congenital anomalies ,surveillance, epidemiology ,Population Surveillance ,Microcephaly ,NEURAL-TUBE DEFECTS ,Female ,Anatomy ,Research Article ,medicine.medical_specialty ,Cardiac Ventricles ,Population ,Cardiology ,History, 21st Century ,Duodenal atresia ,Europe/epidemiology ,Congenital Abnormalities ,03 medical and health sciences ,Signs and Symptoms ,Diagnostic Medicine ,medicine ,Congenital Disorders ,Humans ,Birth Defects ,education ,ZIKA VIRUS-INFECTION ,business.industry ,lcsh:R ,Biology and Life Sciences ,History, 20th Century ,medicine.disease ,Congenital Abnormalities/diagnosis ,Congenital Abnormalities/epidemiology ,Congenital Abnormalities/etiology ,Congenital Abnormalities/history ,Teratology ,REDUCTION ,Atresia ,People and Places ,Birth ,Cardiovascular Anatomy ,Ventricular Septal Defects ,Women's Health ,lcsh:Q ,business ,Developmental Biology - Abstract
Background Surveillance of congenital anomalies is important to identify potential teratogens. Methods This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980–2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. Results Seventeen anomaly subgroups had statistically significant trends from 2003±2012; 12 increasing and 5 decreasing. Conclusions The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to 2.0%), 4.6% (1.0% to 8.2%), 3.4% (1.3% to 5.5%) and 4.1% (2.4% to 5.7%) respectively may reflect increases in maternal obesity and diabetes (known risk factors). The increased prevalence of cystic adenomatous malformation of the lung [6.5% (3.5% to 9.4%)] and decreased prevalence of limb reduction defects [-2.8% (-4.2% to -1.5%)] are unexplained. For renal dysplasia and maternal infections, increasing trends may be explained by increased screening, and deceases in patent ductus arteriosus at term and increases in craniosynostosis, by improved follow up period after birth and improved diagnosis. For oesophageal atresia, duodenal atresia/stenosis and ano-rectal atresia/stenosis recent changes in prevalence appeared incidental when compared with larger long term fluctuations. For microcephaly and congenital hydronephrosis trends could not be interpreted due to discrepancies in diagnostic criteria. The trends for club foot and syndactyly disappeared once registries with disparate results were excluded. No decrease in neural tube defects was detected, despite efforts at prevention through folic acid supplementation.
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- 2018
32. Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 european countries, 2000-2011
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Jorieke E. H. Bergman, Vera Nelen, Catherine Lynch, Sylvia Stoianova, Elizabeth S Draper, Larraitz Arriola, Ruth Greenlees, Anke Rissmann, Kari Klungsøyr, Annette Queisser-Luft, Melinda Csáky-Szunyogh, Marie-Claude Addor, Diana Wellesley, Martin Haeusler, David Tuckerz, Natalya Zymak-Zakutnia, Catherine Rounding, Ester Garne, Clara Cavero-Carbonell, Anna Springett, Maria Loane, Anna Pierini, Joan K. Morris, Robert McDonnell, Miriam Gatt, Mary O'Mahony, Babak Khoshnood, Judith Rankin, and Carlos Matias Dias
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Genetics ,Edwards syndrome ,Pregnancy ,Down syndrome ,education.field_of_study ,medicine.medical_specialty ,Polydactyly ,Obstetrics ,business.industry ,Population ,Gestational age ,Prenatal diagnosis ,medicine.disease ,medicine ,Trisomy ,education ,business ,Genetics (clinical) - Abstract
The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associated anomalies was reported in live births. The prevalence of trisomy 18 and trisomy 13 were 4.8 (95%CI: 4.7-5.0) and 1.9 (95%CI: 1.8-2.0) per 10,000 total births. Seventy three percent of cases with trisomy 18 or trisomy 13 resulted in a TOPFA. Amongst 468 live born babies with trisomy 18, 80% (76-83%) had a cardiac anomaly, 21% (17-25%) had a nervous system anomaly, 8% (6-11%) had esophageal atresia and 10% (8-13%) had an orofacial cleft. Amongst 240 Live born babies with trisomy 13, 57% (51-64%) had a cardiac anomaly, 39% (33-46%) had a nervous system anomaly, 30% (24-36%) had an eye anomaly, 44% (37-50%) had polydactyly and 45% (39-52%) had an orofacial cleft. For babies with trisomy 18 boys were less likely to have a cardiac anomaly compared with girls (OR = 0.48 (0.30-0.77) and with trisomy 13 were less likely to have a nervous system anomaly [OR = 0.46 (0.27-0.77)]. Babies with trisomy 18 or trisomy 13 do have a high proportion of associated anomalies with the distribution of anomalies being different in boys and girls.
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- 2015
33. Meckel-Gruber Syndrome
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Kari Klungsøyr, Marie-Claude Addor, Judith Rankin, Elizabeth S Draper, Diana Wellesley, Elisa Calzolari, Paula Braz, Babak Khoshnood, Ljubica Boban, Anke Rissmann, Helen Dolk, Ester Garne, Ingeborg Barišić, Annette Queisser-Luft, Martin Haeusler, Jorieke E. H. Bergman, Anna Pierini, Christine Verellen-Dumoulin, Maria Loane, and Reproductive Origins of Adult Health and Disease (ROAHD)
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Male ,Prenatal Diagnosis/statistics & numerical data ,ANOMALIES ,Epidemiology ,Prevalence ,SHH ,European Surveillance of Congenital Anomalies ,EUROCAT ,Pregnancy ,Prenatal Diagnosis ,CRITERIA ,Genetics (clinical) ,Encephalocele ,Cystic kidney ,education.field_of_study ,Polycystic Kidney Diseases ,Polydactyly ,Obstetrics ,Syndrome ,Europe ,Female ,NEURAL-TUBE DEFECTS ,Encephalocele/diagnosis ,Retinitis Pigmentosa ,Ciliary Motility Disorders ,medicine.medical_specialty ,Genetic Testing/statistics & numerical data ,Population ,Prenatal diagnosis ,PHENOTYPES ,Meckel–Gruber ,Article ,Polycystic Kidney Diseases/diagnosis ,Genetics ,medicine ,Meckel-Gruber syndrome ,Congenital anomalies ,Humans ,Genetic Testing ,education ,Meckel-Gruber Syndrome ,SPECTRUM ,business.industry ,MUTATIONS ,Ciliary Motility Disorders/diagnosis ,medicine.disease ,Estados de Saúde e de Doença ,business - Abstract
Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100 000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3±2.6 (range 11-36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies.European Journal of Human Genetics advance online publication, 3 September 2014; doi:10.1038/ejhg.2014.174.
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- 2015
34. Major Congenital Anomalies in Babies Born With Down Syndrome
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Joan K. Morris, Mary O'Mahony, Larraitz Arriola, Judith Rankin, Amanda J. Neville, Catherine Rounding, Carmel Mullaney, Vera Nelen, Annette Queisser-Luft, Judit Béres, Ester Garne, Babak Khoshnood, David Tucker, Hanitra Randrianaivo, Carlos Matias Dias, Helen Dolk, Lyubov Yevtushok, Maria Loane, Antonin Sipek, Anke Rissmann, Hermien E. K. de Walle, Judith L. S. Budd, Miriam Gatt, Anna Latos-Bielenska, Kari Klungsøyr, Sylvia Stoianova, Marie-Claude Addor, Diana Wellesley, Fabrizio Bianchi, Ingeborg Barišić, and Reproductive Origins of Adult Health and Disease (ROAHD)
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Heart Defects, Congenital ,Male ,medicine.medical_specialty ,Down syndrome ,SEX-DIFFERENCES ,EUROPE ,IMPACT ,Prenatal diagnosis ,Cardiac anomalies ,HEART-DEFECTS ,DISEASE ,Congenital Abnormalities ,SERUM ,Sex Factors ,Antenatal screening ,Genetics ,medicine ,Screening programs ,Humans ,CARDIAC ANOMALY ,MALFORMATIONS ,Registries ,Genetics (clinical) ,prenatal diagnosis ,Obstetrics ,business.industry ,cardiac anomalies ,Infant, Newborn ,Abortion, Induced ,European population ,medicine.disease ,3. Good health ,PREVALENCE ,Logistic Models ,FETAL NUCHAL TRANSLUCENCY ,Female ,Population screening ,business ,Population-Based Registry - Abstract
Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down syndrome registered in 28 European population-based congenital anomaly registries covering seven million births during 2000-2010. Overall, 43.6% (95% CI: 42.4-44.7%) of births with Down syndrome had a cardiac anomaly and 15.0% (14.2-15.8%) had a non-cardiac anomaly. Female babies with Down syndrome were significantly more likely to have a cardiac anomaly compared to male babies (47.6% compared with 40.4%, P
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- 2014
35. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum
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Barišić, Ingeborg, Odak, Ljubica, Loane, M., Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Dolk, Helen, Addor, Marie-Claude, Arriola, Larraitz, Bergman, Jorieke, Bianca, Sebastiano, Boyd, Patricia, Draper, Elizabeth S, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Latos-Bielenska, Anna, McDonnell, Bob, Pierini, Anna, Rankin, Judith, Rissmann, Anke, Queisser-Luft, Annette, Verellen- Dumoulin, Christine, Doray, Berenice, Dias, Carlos Matias, Nelen, Vera, O´Mahony, Mary, Scarano, Gioacchino, Tucker, David, Klungsoyr, Kari, and Reproductive Origins of Adult Health and Disease (ROAHD)
- Subjects
Male ,Pediatrics ,Developmental Disabilities ,Goldenhar syndrome ,GOLDENHAR-SYNDROME ,Pregnancy ,Risk Factors ,Prenatal Diagnosis ,Epidemiology ,FERTILIZATION ,Prevalence ,Registries ,DYSPLASIA ,Genetics (clinical) ,DOMINANT OCULOAURICULOVERTEBRAL SPECTRUM ,education.field_of_study ,ABNORMALITIES ,3. Good health ,Europe ,Phenotype ,MANIFESTATIONS ,Population Surveillance ,OCULOAURICULOFRONTONASAL SYNDROME ,Female ,epidemiology ,Adult ,medicine.medical_specialty ,Oculo-auriculo-vertebral spectrum ,congenital anomalies ,Population ,Prenatal diagnosis ,Article ,CLASSIFICATION ,Young Adult ,Genetics ,medicine ,Humans ,Abnormalities, Multiple ,education ,Chromosome Aberrations ,oculo-auriculo-vertebral spectrum ,business.industry ,Microtia ,medicine.disease ,OAVS ,Hemifacial microsomia ,Etiology ,HEMIFACIAL MICROSOMIA ,business - Abstract
Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids and vertebral anomalies. The aetiology is largely unknown, and the epidemiological data are limited and inconsistent. We present the largest population-based epidemiological study to date, using data provided by the large network of congenital anomalies registries in Europe. The study population included infants diagnosed with oculo-auriculo-vertebral spectrum during the 1990-2009 period from 34 registries active in 16 European countries. Of the 355 infants diagnosed with oculo-auriculo-vertebral spectrum, there were 95.8% (340/355) live born, 0.8% (3/355) fetal deaths, 3.4% (12/355) terminations of pregnancy for fetal anomaly and 1.5% (5/340) neonatal deaths. In 18.9%, there was prenatal detection of anomaly/anomalies associated with oculo-auriculo-vertebral spectrum, 69.7% were diagnosed at birth, 3.9% in the first week of life and 6.1% within 1 year of life. Microtia (88.8%), hemifacial microsomia (49.0%) and ear tags (44.4%) were the most frequent anomalies, followed by atresia/stenosis of external auditory canal (25.1%), diverse vertebral (24.3%) and eye (24.3%) anomalies. There was a high rate (69.5%) of associated anomalies of other organs/systems. The most common were congenital heart defects present in 27.8% of patients. The prevalence of oculo-auriculo-vertebral spectrum, defined as microtia/ ear anomalies and at least one major characteristic anomaly, was 3.8 per 100 000 births. Twinning, assisted reproductive techniques and maternal pre-pregnancy diabetes were confirmed as risk factors. The high rate of different associated anomalies points to the need of performing an early ultrasound screening in all infants born with this disorder.
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- 2014
36. Hirschsprung's disease prevalence in Europe: A register based study
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Anke Rissmann, Vera Nelen, Larraitz Arriola, David Tucker, Marie-Claude Addor, Diana Wellesley, Catherine Rounding, Miriam Gatt, Eszter Balku, Bob McDonnell, Ester Garne, Ingeborg Barišić, Anna Materna-Kiryluk, Rhonda Curran, Mary O'Mahony, Carmel Mullaney, Elizabeth S Draper, Martin Haeusler, Natalya Zymak-Zakutnia, Rosie Thompson, Carmen Martos, Elisa Calzolari, Kari Klungsøyr, Babak Khoshnood, Bérénice Doray, Fabrizio Bianchi, Antonin Sipek, Judith Rankin, Annette Queisser-Luft, Hanitra Randrianaivo, Carlos Matias Dias, Jorieke E. H. Bergman, and Kate E. Best
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Embryology ,education.field_of_study ,medicine.medical_specialty ,Pediatrics ,business.industry ,Population ,Prevalence ,General Medicine ,medicine.disease ,Confidence interval ,symbols.namesake ,Relative risk ,Pediatrics, Perinatology and Child Health ,Epidemiology ,medicine ,Credible interval ,symbols ,Poisson regression ,education ,business ,Hirschsprung's disease ,Developmental Biology - Abstract
Background: Hirschsprung's disease is a congenital gut motility disorder, characterised by the absence of the enteric ganglion cells along the distal gut. The aim of this study was to describe the epidemiology of Hirschsprung's disease, including additional congenital anomalies, total prevalence, trends, and association with maternal age. Methods: Cases of Hirschsprung's disease delivered during 1980 to 2009 notified to 31 European Surveillance of Congenital Anomaly registers formed the population-based case-series. Prevalence rates and 95% confidence intervals were calculated as the number of cases per 10,000 births. Multilevel Poisson regression was performed to investigate trends in prevalence, geographical variation and the association with maternal age. Results: There were 1,322 cases of Hirschsprung's disease among 12,146,210 births. The total prevalence was 1.09 (95% confidence interval, 1.03–1.15) per 10,000 births and there was a small but significant increase in prevalence over time (relative risk?=?1.01; 95% credible interval, 1.00–1.02; p?=?0.004). There was evidence of geographical heterogeneity in prevalence (p?0.001). Excluding 146 (11.0%) cases with chromosomal anomalies or genetic syndromes, there were 1,176 cases (prevalence?=?0.97; 95% confidence interval, 0.91–1.03 per 10,000 births), of which 137 (11.6%) had major structural anomalies. There was no evidence of a significant increased risk of Hirschsprung's disease in cases born to women aged ?35 years compared with those aged 25 to 29 (relative risk?=?1.09; 95% credible interval, 0.91–1.31; p?=?0.355). Conclusion: This large population-based study found evidence of a small increasing trend in Hirschsprung's disease and differences in prevalence by geographic location. There was also no evidence of an association with maternal age.
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- 2014
37. Trends in congenital anomalies in Europe from 1980 to 2012
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Morris, Joan K., primary, Springett, Anna L., additional, Greenlees, Ruth, additional, Loane, Maria, additional, Addor, Marie-Claude, additional, Arriola, Larraitz, additional, Barisic, Ingeborg, additional, Bergman, Jorieke E. H., additional, Csaky-Szunyogh, Melinda, additional, Dias, Carlos, additional, Draper, Elizabeth S., additional, Garne, Ester, additional, Gatt, Miriam, additional, Khoshnood, Babak, additional, Klungsoyr, Kari, additional, Lynch, Catherine, additional, McDonnell, Robert, additional, Nelen, Vera, additional, Neville, Amanda J., additional, O'Mahony, Mary, additional, Pierini, Anna, additional, Queisser-Luft, Annette, additional, Randrianaivo, Hanitra, additional, Rankin, Judith, additional, Rissmann, Anke, additional, Kurinczuk, Jennifer, additional, Tucker, David, additional, Verellen-Dumoulin, Christine, additional, Wellesley, Diana, additional, and Dolk, Helen, additional
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- 2018
- Full Text
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38. Birth defects in the vicinity of nuclear power plants in Germany
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A. Queißer-Luft, Awi Wiesel, Melanie Kaiser, Claudia Spix, Maria Blettner, Klaus Schlaefer, Gabriela Stolz, Jürgen Wahrendorf, and Andreas Mergenthaler
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Multivariate analysis ,Population ,Biophysics ,Congenital Abnormalities ,Cohort Studies ,Pregnancy ,Risk Factors ,Germany ,Prevalence ,medicine ,Humans ,Air Pollution, Radioactive ,Longitudinal Studies ,Registries ,education ,General Environmental Science ,education.field_of_study ,Radiation ,business.industry ,Infant, Newborn ,Infant ,Environmental Exposure ,Environmental exposure ,medicine.disease ,Confidence interval ,Nuclear Power Plants ,Population Surveillance ,Prenatal Exposure Delayed Effects ,Relative risk ,Multivariate Analysis ,Cohort ,Female ,business ,Demography ,Cohort study - Abstract
Living in the vicinity of nuclear power plants (NPP) is discussed here in terms of adverse health effects. A prospective population-based cohort study was conducted to evaluate whether the prevalence of birth defects in the vicinity of NPPs is elevated and scrutinize a possible distance correlation. A birth cohort born to mothers living within 10 km of two selected NPPs (study region) was compared to a region without NPP (comparison region), and an active surveillance of all live births, stillbirths, and induced abortions in the defined regions was performed. Between 01/2007 and 02/2008, all newborns were examined by specially trained study paediatricians according to the protocols of the Birth Registry Mainz Model. The cohort consisted of 5,273 infants (90% completeness). The outcome measure was an infant with birth defect(s). The prevalence of infants with birth defects was 4.5% in the study region and 4.7% in the comparison region, which corresponds to a relative risk (RR) of 0.94 (lower 95% confidence level (CL): 0.76). Thus, the prevalence of birth defects in the regions surrounding NPPs was not increased compared to those of the comparison region. Adjustment for potential confounders did not substantially change the result (RR 0.90, lower 95% CL 0.73). The adjusted and unadjusted distance approach (1/distance in km) did not show any correlation to vicinity to a NPP (p = 0.38). Specifically, within the study region, the prevalence of birth defects showed no upward trend with decreasing distance. Birth defect prevalence and most descriptive parameters in the comparison region were identical to those in the Birth Registry Mainz Model.
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- 2011
39. Erhöht mütterliche Adipositas das Risiko für kindliche Fehlbildungen?
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E Merz, Gabriela Stolz, Annette Queisser-Luft, H Menger, K Schlaefer, and D Kieninger-Baum
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Pediatrics ,medicine.medical_specialty ,Pregnancy ,education.field_of_study ,business.industry ,Cross-sectional study ,Population ,Case-control study ,Odds ratio ,medicine.disease ,Relative risk ,Medicine ,Population study ,Radiology, Nuclear Medicine and imaging ,business ,education ,Body mass index - Abstract
Aim To investigate the risk of congenital malformations for newborn of obese women (BMI > or = 30) compared with women of average prepregnancy weight. Methods We performed a prospective, population-based case-control study of 20,248 newborn born in the city of Mainz. A total of 1,451 infants (cases) with and 8,088 without congenital malformations (controls) were analysed. The relative risks of associations between obesity and malformations were calculated as odds ratios (OR) with 95% confidence intervals (CI). Results The prevalence of malformations in children of obese mothers is 11.1% and thus approximately 4% higher than those of the total study population. There is a significant odds ratio for major malformations (OR 1.3; KI 1.0-1.7). Statistically significant associations were calculated for malformations of the internal urogenital system (OR 1.7; 1.1-2.8), the eyes (OR 5.0; 1.3-20.0) and for orofacial clefts (OR 1.7; 1.1-2.8). Among the specific malformations the highest associations occurred for encephalocele (OR 7.3; 1.1-50.6), common truncus arteriosus (OR 6.3; 1.6-24.8) and Potter sequence (OR 6.3; 1.6-24.8). Adjustment for confounding factors (e.g. maternal diabetes mellitus and age) did not change the odds ratios. Conclusions Our data demonstrate that newborn of obese mothers are at an increased risk for malformations. An adequate prenatal examination of these pregnancies should include ultrasound screening by specially trained ultrasonographers in tertiary units (DEGUM II/DEGUM III) and serum alpha-fetoprotein measurements. Public health campaigns for prevention are advised.
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- 2008
40. Congenital Anomalies Associated with Trisomy 18 or Trisomy 13: A Registry-Based Study in 16 European Countries, 2000-2011
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Springett, Anna, Wellesley, Diana, Greenlees, Ruth, Loane, Maria, Addor, Marie-Claude, Arriola, Larraitz, Bergman, Jorieke, Cavero-Carbonell, Clara, Csaky-Szunyogh, Melinda, Draper, Elizabeth S., Garne, Ester, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, Lynch, Catherine, Dias, Carlos Matias, McDonnell, Robert, Nelen, Vera, O'Mahony, Mary, Pierini, Anna, Queisser-Luft, Annette, Rankin, Judith, Rissmann, Anke, Rounding, Catherine, Stoianova, Sylvia, Tuckerz, David, Zymak-Zakutnia, Natalya, Morris, Joan K., and Reproductive Origins of Adult Health and Disease (ROAHD)
- Subjects
Adult ,Heart Defects, Congenital ,Male ,SEX-DIFFERENCES ,Time Factors ,Adolescent ,TRISOMIES ,Pregnancy Complications/diagnosis ,Gestational Age ,Trisomy ,Nervous System Malformations ,Europe/epidemiology ,Congenital Abnormalities ,Nervous System Malformations/diagnosis ,Young Adult ,Pregnancy ,Prenatal Diagnosis ,Prevalence ,Humans ,trisomy 18 ,MALFORMATIONS ,DOWN-SYNDROME ,Registries ,Fetal Death ,trisomy 13 ,Chromosomes, Human, Pair 18/genetics ,Chromosomes, Human, Pair 13 ,MORTALITY ,cardiac anomalies ,Registries/statistics & numerical data ,Infant, Newborn ,NATURAL-HISTORY ,DEFECTS ,Prognosis ,Trisomy/genetics ,Congenital Abnormalities/diagnosis ,Europe ,Pregnancy Complications ,Patau syndrome ,SURVIVAL ,Heart Defects, Congenital/diagnosis ,MATERNAL AGE ,Chromosomes, Human, Pair 13/genetics ,Female ,Chromosomes, Human, Pair 18 ,Trisomy 18 Syndrome ,Edwards syndrome - Abstract
The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associated anomalies was reported in live births. The prevalence of trisomy 18 and trisomy 13 were 4.8 (95%CI: 4.7-5.0) and 1.9 (95%CI: 1.8-2.0) per 10,000 total births. Seventy three percent of cases with trisomy 18 or trisomy 13 resulted in a TOPFA. Amongst 468 live born babies with trisomy 18, 80% (76-83%) had a cardiac anomaly, 21% (17-25%) had a nervous system anomaly, 8% (6-11%) had esophageal atresia and 10% (8-13%) had an orofacial cleft. Amongst 240 Live born babies with trisomy 13, 57% (51-64%) had a cardiac anomaly, 39% (33-46%) had a nervous system anomaly, 30% (24-36%) had an eye anomaly, 44% (37-50%) had polydactyly and 45% (39-52%) had an orofacial cleft. For babies with trisomy 18 boys were less likely to have a cardiac anomaly compared with girls (OR = 0.48 (0.30-0.77) and with trisomy 13 were less likely to have a nervous system anomaly [OR = 0.46 (0.27-0.77)]. Babies with trisomy 18 or trisomy 13 do have a high proportion of associated anomalies with the distribution of anomalies being different in boys and girls. © 2015 Wiley Periodicals, Inc.
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- 2015
41. Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study
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Marie-Claude Addor, Diana Wellesley, Judith Rankin, Ingeborg Barišić, L. Arriola, Anke Rissmann, Hanitra Randrianaivo, Vera Nelen, Catherine Rounding, Paula Braz, Bob McDonnell, Ester Garne, Antonin Sipek, Martin Haeusler, Anette Queisser-Luft, Bérénice Doray, Elizabeth S Draper, Wladimir Wertelecki, Kari Klungsøyr, Kate E. Best, Anna Latos-Bielenska, Elisa Calzolari, Fabrizio Bianchi, Mary O'Mahony, Carmel Mullaney, Rosie Thompson, Judit Béres, Ruth Greenlees, Hermien E. K. de Walle, Mark R. McGivern, Babak Khoshnood, David Tucker, Miriam Gatt, Carmen Martos, and Reproductive Origins of Adult Health and Disease (ROAHD)
- Subjects
ANOMALIES ,Adult ,Male ,Pediatrics ,medicine.medical_specialty ,AUSTRALIA ,Adolescent ,Population ,Prevalence ,Prenatal diagnosis ,Gestational Age ,Europe/epidemiology ,symbols.namesake ,Young Adult ,Epidemiology ,Medicine ,Birth Weight ,Humans ,MALFORMATIONS ,Abnormalities, Multiple ,Poisson regression ,Registries ,PRENATAL-DIAGNOSIS ,education ,education.field_of_study ,business.industry ,MORTALITY ,Infant, Newborn ,Obstetrics and Gynecology ,Congenital diaphragmatic hernia ,Gestational age ,General Medicine ,DEFECTS ,medicine.disease ,Survival Analysis ,Congenital anomalies ,Diaphragmal hernia ,Europe ,Hernias, Diaphragmatic, Congenital/epidemiology ,Relative risk ,Population Surveillance ,Pediatrics, Perinatology and Child Health ,symbols ,Abnormalities, Multiple/epidemiology ,Female ,business ,Hernias, Diaphragmatic, Congenital ,Maternal Age - Abstract
INTRODUCTION: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT).METHODS: Cases of CDH delivered between 1980 and 2009 notified to 31 EUROCAT registers formed the population-based case series. Prevalence over time was estimated using multilevel Poisson regression, and heterogeneity between registers was evaluated from the random component of the intercept.RESULTS: There were 3373 CDH cases reported among 12 155 491 registered births. Of 3131 singleton cases, 353 (10.4%) were associated with a chromosomal anomaly, genetic syndrome or microdeletion, 784 (28.2%) were associated with other major structural anomalies. The male to female ratio of CDH cases overall was 1:0.69. Total prevalence was 2.3 (95% CI 2.2 to 2.4) per 10 000 births and 1.6 (95% CI 1.6 to 1.7) for isolated CDH cases. There was a small but significant increase (relative risk (per year)=1.01, 95% credible interval 1.00-1.01; p=0.030) in the prevalence of total CDH over time but there was no significant increase for isolated cases (ie, CDH cases that did not occur with any other congenital anomaly). There was significant variation in total and isolated CDH prevalence between registers. The proportion of cases that survived to 1 week was 69.3% (1392 cases) for total CDH cases and 72.7% (1107) for isolated cases.CONCLUSIONS: This large population-based study found an increase in total CDH prevalence over time. CDH prevalence also varied significantly according to geographical location. No significant association was found with maternal age.
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- 2014
42. Trends and geographic inequalities in the prevalence of Down syndrome in Europe, 1980-1999
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H. Jordan, D. Lillis, C. De Vigan, Maria Loane, Blanca Gener, Ester Garne, Fabrizio Bianchi, Claude Stoll, H. E. K. De Walle, Annette Queisser-Luft, Maria Feijoo, Martin Haeusler, Marie-Claude Addor, David Tucker, Helen Dolk, and Reproductive Origins of Adult Health and Disease (ROAHD)
- Subjects
Adult ,Pediatrics ,medicine.medical_specialty ,Down syndrome ,Inequality ,Epidemiology ,media_common.quotation_subject ,Population ,Prenatal diagnosis ,DIAGNOSIS ,Prevalence ,termination of pregnancy ,Humans ,Medicine ,media_common.cataloged_instance ,Registries ,European union ,education ,AGE-SPECIFIC RISK ,media_common ,Pregnancy ,education.field_of_study ,prenatal diagnosis ,business.industry ,Public Health, Environmental and Occupational Health ,medicine.disease ,Europe ,Prenatal screening ,Female ,Down Syndrome ,Live birth ,business ,Maternal Age ,Demography - Abstract
Background EUROCAT is a network of population-based registries for the epidemiologic surveillance of congenital anomalies covering approximately one quarter of births in the European Union. Down syndrome constitutes approximately 8% of cases of registered congenital anomaly in Europe, with over 7 000 affected pregnancies in the 15 current member states of the European Union each year. In this paper, we aim to examine trends in the live birth prevalence of Down syndrome in Europe in the light of trends in maternal age and in prenatal diagnosis. Methods Descriptive analysis of data from 24 EUROCAT registries, covering 8.3 million births 1980-99. Cases include live births, stillbirths and terminations of pregnancy following prenatal diagnosis. Results Since 1980, the proportion of births to mothers of 35 years of age and over has risen quite dramatically from 8 to 14% for the European Union as a whole, with steeper rises in some regions. By 1995-1999, the proportion of “older” mothers varied between regions from 10% to 25%, and the total prevalence (including terminations of pregnancy) of Down syndrome varied from 1 to 3 per 1 000 births. Some European regions have shown a more than twofold increase in total prevalence of Down syndrome since 1980. The proportion of cases of Down syndrome which were prenatally diagnosed followed by termination of pregnancy in 1995-1999 varied from 0% in the three regions of Ireland and Malta where termination of pregnancy is illegal, to less than 50% in 14 further regions, to 77% in Paris. The extent to which terminations of pregnancy were concentrated among older mothers varied between regions. The live birth prevalence has since 1980 increasingly diverged from the rising total prevalence, in some areas remaining approximately stable, in others decreasing over time. Conclusion The rise in average maternal age in Europe has brought with it an increase in the number of pregnancies affected by Down syndrome. The widespread practice of prenatal screening and termination of pregnancy has in most of the regions covered by EUROCAT counteracted the effect of maternal age in its effect on live birth prevalence. Under the joint influences of maternal age and prenatal screening the pattern of geographic inequalities in Down syndrome live birth prevalence in Europe has also been changed.
- Published
- 2005
43. Epidemiologie von Fehlbildungen
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A. Queißer-Luft
- Subjects
Gynecology ,medicine.medical_specialty ,business.industry ,Obstetrics and Gynecology ,Medicine ,business - Abstract
Fehlbildungsregister/Geburtenregister sind die epidemiologische Grundlage, Haufigkeiten angeborener morphologischer Defekte zu erfassen und somit das Basisrisiko angeborener Fehlbildungen fur Neugeborene zu ermitteln. Das Risiko, mit einer grosen Fehlbildung geborenen zu werden, liegt derzeit in Deutschland bei 5–7%. Die in den Fehlbildungsregistern erhobenen Basisdaten dienen dazu, zeitliche und regionale Trends von Fehlbildungspravalenzen zu erfassen, Risikofaktoren und damit Ansatzpunkte fur Praventionsmasnahmen zu ermitteln, Praventionsmasnahmen zu veranlassen bzw. zu uberprufen sowie Forschungsprojekte zu initiieren. Zur Erfassung valider Pravalenzen und Daten sowie zur Vermeidung von Beobachter-, Definitions-, und Selektionsverzerrungen ist die Verwendung aktiver Erfassungssysteme erforderlich. Das wesentliche epidemiologische Basiswissen fur die Fehlbildungsforschung wird dargestellt.
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- 2005
44. Prenatal diagnosis of severe structural congenital malformations in Europe
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Yves Gillerot, Vera Nelen, Claude Stoll, Anna Pierini, R. Tincheva, Marie-Claude Addor, Gioacchino Scarano, Ingeborg Barišić, Annette Queisser-Luft, E. Garne, C. De Vigan, Maria Feijoo, David Tucker, Miriam Gatt, Blanca Gener, Helen Dolk, C. Rösch, C. Mosquera, and Maria Loane
- Subjects
education.field_of_study ,Pregnancy ,medicine.medical_specialty ,Omphalocele ,Radiological and Ultrasound Technology ,Gastroschisis ,Spina bifida ,business.industry ,Obstetrics ,Population ,Obstetrics and Gynecology ,Gestational age ,Prenatal diagnosis ,General Medicine ,medicine.disease ,Reproductive Medicine ,medicine ,Radiology, Nuclear Medicine and imaging ,Anencephalus ,education ,business - 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.
- Published
- 2004
45. Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe
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Helen Dolk, Maria Loane, Hermien E. K. de Walle, Miriam Gatt, David H. Stone, Neus Baena, Blanca Gener, Ester Garne, Yves Gillerot, Gioacchino Scarano, Annette Queisser-Luft, Carmen Mosquera-Tenreiro, Maria Feijoo, Claude Stoll, Catherine De Vigan, Marie-Claude Addor, University of Groningen, and Reproductive Origins of Adult Health and Disease (ROAHD)
- Subjects
Adult ,medicine.medical_specialty ,prenatal ultrasound ,chorion villus sampling ,Population ,Chorionic villus sampling ,Prenatal diagnosis ,uptake rate ,Medical Records ,Ultrasonography, Prenatal ,Predictive Value of Tests ,Pregnancy ,Prenatal Diagnosis ,Outcome Assessment, Health Care ,medicine ,Humans ,Abnormalities, Multiple ,prenatal diagnostic procedures ,Registries ,education ,Genetics (clinical) ,Gynecology ,Chromosome Aberrations ,education.field_of_study ,medicine.diagnostic_test ,Obstetrics ,business.industry ,MEDICINE ,Obstetrics and Gynecology ,WOMEN ,Congenital malformations ,medicine.disease ,Europe ,medicine.anatomical_structure ,Amniocentesis ,amniocentesis ,Gestation ,Chorionic villi ,Female ,business ,Maternal Age - Abstract
Objective To investigate outcomes of ultrasound investigations (US) and invasive diagnostic procedures in cases of congenital malformations (CM), and to compare the use of invasive prenatal test techniques (amniocentesis (AC) versus chorionic villus sampling (CVS)) among European populations.Design Analysis of data from population-based registries of CM.Subjects 25 400 cases of CM recorded by 14 EUROCAT registries covering a total population of 1013 352 births 1995-99.Results US were performed in 91% of cases, and positively detected CM in 35% of cases. AC was performed in 24% of the cases and CVS in 3% of cases. Thirty-eight percent of invasive tests gave positive results. Fifty-two percent of cases with maternal age greater than or equal to35 years had an invasive test performed compared to 20% of cases with younger mothers.Considerable variation was found between registries in the uptake rate of invasive tests in cases with older maternal age and on the use of invasive tests with only four regions employing CVS techniques in at least a third of the cases having invasive tests. For chromosomal anomalies US gave positive results in 46% of cases with maternal ageConclusion Prenatal US was performed in 91% of all pregnancies with CM but the test was only positive in a third of the cases. There was large regional variation in the uptake rate of invasive tests with maternal age of 35 years or more. For every CVS carried out there were nine AC tests. US is an important tool in the prenatal diagnosis of chromosomal anomalies in Europe. Copyright (C) 2004 John Wiley Sons, Ltd.
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- 2004
46. PRENATAL DIAGNOSIS OF LIMB REDUCTION DEFICIENCIES BY FETAL ULTRASONOGRAPHIC EXAMINATION IN EUROPE
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WIESEL, A., STOLL, C., QUEISSER-LUFT, A., and FROSTER, U.
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Genetic research -- Analysis ,Human genetics -- Research ,Genetic disorders -- Diagnosis ,Prenatal diagnosis -- Research ,Fetus -- Ultrasonic imaging ,Biological sciences - Published
- 2000
47. Evaluation of Prenatal Renal Ultrasonographic Findings in 708,756 Fetuses - An European Study
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Queisser-Luft, A.C., Wiesel, A., Stoll, C., and Clementi, M.
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Genetic research -- Analysis ,Human genetics -- Research ,Genetic disorders -- Research ,Biological sciences - Published
- 2000
48. Das Kind mit Behinderung in Familie und Gesellschaft
- Author
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A. Queisser-Luft, M. Hagedorn-Greiwe, and Ute Thyen
- Subjects
medicine.medical_specialty ,business.industry ,Family medicine ,Pediatrics, Perinatology and Child Health ,Pediatric surgery ,medicine ,Child and adolescent psychiatry ,Surgery ,business - Published
- 2002
49. Prä- und postnatales Nierenscreening im Vergleich: eine Analyse von 34.450 Neugeborenen des Geburtenregisters Mainzer Modell
- Author
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Klaus Schlaefer, R Schumacher, Gabriela Stolz, Awi Wiesel, and A Queisser-Luft
- Subjects
Gynecology ,medicine.medical_specialty ,business.industry ,Follow up studies ,Kidney pathology ,Endocrinology ,Birth register ,Recien nacido ,Internal medicine ,medicine ,Radiology, Nuclear Medicine and imaging ,Statistical analysis ,Congenital disease ,Ultrasonography ,business ,Kidney abnormalities - Abstract
Zielsetzung. Fehlbildungen des internen Urogenitalsystems sind haufig und stellen die zweithaufigste Organkategorie dar. Anhand des Mainzer Geburtenregisters werden populationsbezogene Pravalenzen von Nierenfehlbildungen, die Sensitivitat des pranatalen Ultraschalls und die Haufigkeit operationsbedurftiger Befunde ermittelt. Material und Methode. Im Zeitraum von 1990–2001 erhielten alle in Mainz geborenen Kinder neben einer klinischen Untersuchung eine Ultraschalluntersuchung der ableitenden Harnwege. Bei Totgeborenen, Spontanaborten (≥15. SSW) und induzierten Aborten wurden die Befunde der Pathologie in die Erfassung einbezogen. Seit 1996 (nach Einfuhrung des Fehlbildungsschalles in die Mutterschaftsrichtlinien am 1.4.1995) war es moglich, neben postnatale auch pranatale Befunde der ableitenden Harnwege zu dokumentieren. Alle Kinder mit einem pathologischen Ultraschallbefund wurden retrospektiv analysiert und Daten uber das Follow-up, besonders uber die Operationsbedurftigkeit der Nierenfehlbildung, erhoben. Ergebnisse. Im Zeitraum von 1990–2001 wurden 34.450 Kinder untersucht. Davon hatten 407 Kinder (1,2%) eine Nierenfehlbildung. Im Untersuchungskollektiv von 1996–2001 hatten bei 13.162 Kindern 194 Kinder (1,5%) einen pathologischen und 225 Neugeborene (2,07%) einen kontrollbedurftigen Befund. Am haufigsten wurden Doppelniere, Hydronephrose und Megaureter diagnostiziert. Operationsbedurftige Befunde konnten bei 22 Kindern (12,8%) festgestellt werden. Die Sensitivitat des pranatalen Ultraschalls lag bei 36% und die Spezifitat bei 99%. Schlussfolgerung. Die pra- und postnatale Ultraschalluntersuchung der Niere stellen insgesamt 2 sich erganzende Untersuchungsmethoden dar. Die pranatale Untersuchung erkennt nahezu alle Nierenfehlbildungen, die nicht mit dem Leben vereinbar sind. Das postnatale Nierenscreening ermoglicht die Erfassung pranatal nicht diagnostizierter Fehlbildungen. Keine der beiden Untersuchungen kann die andere ersetzen. Die Pravalenz der Nierenfehlbildung entspricht in etwa der Pravalenz der angeborenen Huftluxation. Daher sollte ein bundesweites Nierenscreening ernsthaft diskutiert werden.
- Published
- 2002
50. Hirschsprung's Disease Prevalence in Europe: A Register Based Study
- Author
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Kate E, Best, Marie-Claude, Addor, Larraitz, Arriola, Eszter, Balku, Ingeborg, Barisic, Fabrizio, Bianchi, Elisa, Calzolari, Rhonda, Curran, Berenice, Doray, Elizabeth, Draper, Ester, Garne, Miriam, Gatt, Martin, Haeusler, Jorieke, Bergman, Babak, Khoshnood, Kari, Klungsoyr, Carmen, Martos, Anna, Materna-Kiryluk, Carlos, Matias Dias, Bob, McDonnell, Carmel, Mullaney, Vera, Nelen, Mary, O'Mahony, Annette, Queisser-Luft, Hanitra, Randrianaivo, Anke, Rissmann, Catherine, Rounding, Antonin, Sipek, Rosie, Thompson, David, Tucker, Diana, Wellesley, Natalya, Zymak-Zakutnia, and Judith, Rankin
- Subjects
Adult ,Chromosome Aberrations ,Male ,trends ,congenital aganglionic megacolon ,prevalence ,Infant, Newborn ,Infant ,Survival Analysis ,Hirschsprung's disease ,gut motility disorder ,Europe ,CONGENITAL-ANOMALIES ,Case-Control Studies ,Humans ,Female ,Hirschsprung Disease ,Registries ,Maternal Age - Abstract
Background: Hirschsprung's disease is a congenital gut motility disorder, characterised by the absence of the enteric ganglion cells along the distal gut. The aim of this study was to describe the epidemiology of Hirschsprung's disease, including additional congenital anomalies, total prevalence, trends, and association with maternal age. Methods: Cases of Hirschsprung's disease delivered during 1980 to 2009 notified to 31 European Surveillance of Congenital Anomaly registers formed the population-based case-series. Prevalence rates and 95% confidence intervals were calculated as the number of cases per 10,000 births. Multilevel Poisson regression was performed to investigate trends in prevalence, geographical variation and the association with maternal age. Results: There were 1,322 cases of Hirschsprung's disease among 12,146,210 births. The total prevalence was 1.09 (95% confidence interval, 1.03-1.15) per 10,000 births and there was a small but significant increase in prevalence over time (relative risk = 1.01; 95% credible interval, 1.00-1.02; p = 0.004). There was evidence of geographical heterogeneity in prevalence (p < 0.001). Excluding 146 (11.0%) cases with chromosomal anomalies or genetic syndromes, there were 1,176 cases (prevalence = 0.97; 95% confidence interval, 0.91-1.03 per 10,000 births), of which 137 (11.6%) had major structural anomalies. There was no evidence of a significant increased risk of Hirschsprung's disease in cases born to women aged >= 35 years compared with those aged 25 to 29 (relative risk = 1.09; 95% credible interval, 0.91-1.31; p = 0.355). Conclusion: This large population-based study found evidence of a small increasing trend in Hirschsprung's disease and differences in prevalence by geographic location. There was also no evidence of an association with maternal age. (C) 2014 Wiley Periodicals, Inc.
- Published
- 2014
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