Search

Your search keyword '"O'Mahony, Mary T."' showing total 25 results
Start Over Author "O'Mahony, Mary T." Publication Year Range Last 10 years
25 results on '"O'Mahony, Mary T."'

2. Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study

Author

van de Putte, Romy, van Rooij, Iris A. L. M., Marcelis, Carlo L. M., Guo, Michel, Brunner, Han G., Addor, Marie-Claude, Cavero-Carbonell, Clara, Dias, Carlos M., Draper, Elizabeth S., Etxebarriarteun, Larraitz, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, Kurinczuk, Jenny J., Lanzoni, Monica, Latos-Bielenska, Anna, Luyt, Karen, O’Mahony, Mary T., Miller, Nicola, Mullaney, Carmel, Nelen, Vera, Neville, Amanda J., Perthus, Isabelle, Pierini, Anna, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Schaub, Bruno, Tucker, David, Wellesley, Diana, Wiesel, Awi, Zymak-Zakutnia, Natalya, Loane, Maria, Barisic, Ingeborg, de Walle, Hermien E. K., Roeleveld, Nel, and Bergman, Jorieke E. H.

Published
2020
Full Text
View/download PDF

4. Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – A EUROCAT study

Author

Garne, Ester, Rissmann, Anke, Addor, Marie-Claude, Barisic, Ingeborg, Bergman, Jorieke, Braz, Paula, Cavero-Carbonell, Clara, Draper, Elizabeth S., Gatt, Miriam, Haeusler, Martin, Klungsoyr, Kari, Kurinczuk, Jennifer J., Lelong, Nathalie, Luyt, Karen, Lynch, Catherine, O'Mahony, Mary T., Mokoroa, Olatz, Nelen, Vera, Neville, Amanda J., Pierini, Anna, Randrianaivo, Hanitra, Rankin, Judith, Rouget, Florence, Schaub, Bruno, Tucker, David, Verellen-Dumoulin, Christine, Wellesley, Diana, Wiesel, Awi, Zymak-Zakutnia, Nataliia, Lanzoni, Monica, and Morris, Joan K.

Published
2018
Full Text
View/download PDF

6. Long term trends in prevalence of neural tube defects in Europe : population based study

Author

Khoshnood, Babak, Loane, Maria, de Walle, Hermien, Arriola, Larraitz, Addor, Marie-Claude, Barisic, Ingeborg, Beres, Judit, Bianchi, Fabrizio, Dias, Carlos, Draper, Elizabeth, Garne, Ester, Gatt, Miriam, Haeusler, Martin, Klungsoyr, Kari, Latos-Bielenska, Anna, Lynch, Catherine, McDonnell, Bob, Nelen, Vera, Neville, Amanda J, O’Mahony, Mary T, Queisser-Luft, Annette, Rankin, Judith, Rissmann, Anke, Ritvanen, Annukka, Rounding, Catherine, Sipek, Antonin, Tucker, David, Verellen-Dumoulin, Christine, Wellesley, Diana, and Dolk, Helen

Published
2015

7. Amniotic band syndrome and limb body wall complex in Europe 1980–2019

Author

Bergman, Jorieke E. H., primary, Barišić, Ingeborg, additional, Addor, Marie‐Claude, additional, Braz, Paula, additional, Cavero‐Carbonell, Clara, additional, Draper, Elizabeth S., additional, Echevarría‐González‐de‐Garibay, Luis J., additional, Gatt, Miriam, additional, Haeusler, Martin, additional, Khoshnood, Babak, additional, Klungsøyr, Kari, additional, Kurinczuk, Jennifer J., additional, Latos‐Bielenska, Anna, additional, Luyt, Karen, additional, Martin, Danielle, additional, Mullaney, Carmel, additional, Nelen, Vera, additional, Neville, Amanda J., additional, O'Mahony, Mary T., additional, Perthus, Isabelle, additional, Pierini, Anna, additional, Randrianaivo, Hanitra, additional, Rankin, Judith, additional, Rissmann, Anke, additional, Rouget, Florence, additional, Sayers, Gerardine, additional, Schaub, Bruno, additional, Stevens, Sarah, additional, Tucker, David, additional, Verellen‐Dumoulin, Christine, additional, Wiesel, Awi, additional, Gerkes, Erica H., additional, Perraud, Annie, additional, Loane, Maria A., additional, Wellesley, Diana, additional, and de Walle, Hermien E. K., additional

Published
2022
Full Text
View/download PDF

9. Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries

Author

Morris, Joan K., primary, Wellesley, Diana, additional, Limb, Elizabeth, additional, Bergman, Jorieke E. H., additional, Kinsner‐Ovaskainen, Agnieszka, additional, Addor, Marie Claude, additional, Broughan, Jennifer M., additional, Cavero‐Carbonell, Clara, additional, Dias, Carlos M., additional, Echevarría‐González‐de‐Garibay, Luis‐Javier, additional, Gatt, Miriam, additional, Haeusler, Martin, additional, Barisic, Ingeborg, additional, Klungsoyr, Kari, additional, Lelong, Nathalie, additional, Materna‐Kiryluk, Anna, additional, Neville, Amanda, additional, Nelen, Vera, additional, O'Mahony, Mary T., additional, Perthus, Isabelle, additional, Pierini, Anna, additional, Rankin, Judith, additional, Rissmann, Anke, additional, Rouget, Florence, additional, Sayers, Geraldine, additional, Stevens, Sarah, additional, Tucker, David, additional, and Garne, Ester, additional

Published
2022
Full Text
View/download PDF

10. Epidemiology of aplasia cutis congenita: A population‐based study in Europe

Author

Coi, Alessio, primary, Barisic, Ingeborg, additional, Garne, Ester, additional, Pierini, Anna, additional, Addor, Marie‐Claude, additional, Aizpurua Atxega, Amaia, additional, Ballardini, Elisa, additional, Braz, Paula, additional, Broughan, Jennifer M., additional, Cavero‐Carbonell, Clara, additional, de Walle, Hermien E. K., additional, Draper, Elizabeth S., additional, Gatt, Miriam, additional, Häusler, Martin, additional, Kinsner‐Ovaskainen, Agnieszka, additional, Kurinczuk, Jennifer J., additional, Lelong, Nathalie, additional, Luyt, Karen, additional, Mezzasalma, Lorena, additional, Mullaney, Carmel, additional, Nelen, Vera, additional, Odak, Ljubica, additional, O'Mahony, Mary T., additional, Perthus, Isabelle, additional, Randrianaivo, Hanitra, additional, Rankin, Judith, additional, Rissmann, Anke, additional, Rouget, Florence, additional, Schaub, Bruno, additional, Tucker, David, additional, Wellesley, Diana, additional, Wiśniewska, Katarzyna, additional, Yevtushok, Lyubov, additional, and Santoro, Michele, additional

Published
2022
Full Text
View/download PDF

12. Amniotic band syndrome and limb body wall complex in Europe 1980–2019.

Author

Bergman, Jorieke E. H., Barišić, Ingeborg, Addor, Marie‐Claude, Braz, Paula, Cavero‐Carbonell, Clara, Draper, Elizabeth S., Echevarría‐González‐de‐Garibay, Luis J., Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsøyr, Kari, Kurinczuk, Jennifer J., Latos‐Bielenska, Anna, Luyt, Karen, Martin, Danielle, Mullaney, Carmel, Nelen, Vera, Neville, Amanda J., O'Mahony, Mary T., and Perthus, Isabelle

Abstract

Amniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown. We aimed to determine the prevalence of ABS and LBWC in Europe from 1980 to 2019 and to describe the spectrum of congenital anomalies. In addition, we investigated maternal age and multiple birth as possible risk factors for the occurrence of ABS and LBWC. We used data from the European surveillance of congenital anomalies (EUROCAT) network including data from 30 registries over 1980–2019. We included all pregnancy outcomes, including live births, stillbirths, and terminations of pregnancy for fetal anomalies. ABS and LBWC cases were extracted from the central EUROCAT database using coding information responses from the registries. In total, 866 ABS cases and 451 LBWC cases were included in this study. The mean prevalence was 0.53/10,000 births for ABS and 0.34/10,000 births for LBWC during the 40 years. Prevalence of both ABS and LBWC was lower in the 1980s and higher in the United Kingdom. Limb anomalies and neural tube defects were commonly seen in ABS, whereas in LBWC abdominal and thoracic wall defects and limb anomalies were most prevalent. Twinning was confirmed as a risk factor for both ABS and LBWC. This study includes the largest cohort of ABS and LBWC cases ever reported over a large time period using standardized EUROCAT data. Prevalence, clinical characteristics, and the phenotypic spectrum are described, and twinning is confirmed as a risk factor. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

13. Prevention of Neural Tube Defects in Europe: A Public Health Failure

Author

Morris, Joan K., primary, Addor, Marie-Claude, additional, Ballardini, Elisa, additional, Barisic, Ingeborg, additional, Barrachina-Bonet, Laia, additional, Braz, Paula, additional, Cavero-Carbonell, Clara, additional, Den Hond, Elly, additional, Garne, Ester, additional, Gatt, Miriam, additional, Haeusler, Martin, additional, Khoshnood, Babak, additional, Lelong, Nathalie, additional, Kinsner-Ovaskainen, Agnieszka, additional, Kiuru-Kuhlefelt, Sonja, additional, Klungsoyr, Kari, additional, Latos-Bielenska, Anna, additional, Limb, Elizabeth, additional, O'Mahony, Mary T, additional, Perthus, Isabelle, additional, Pierini, Anna, additional, Rankin, Judith, additional, Rissmann, Anke, additional, Rouget, Florence, additional, Sayers, Gerardine, additional, Sipek, Antonin, additional, Stevens, Sarah, additional, Tucker, David, additional, Verellen-Dumoulin, Christine, additional, de Walle, Hermien E. K., additional, Wellesley, Diana, additional, Wertelecki, Wladimir, additional, and Bermejo-Sanchez, Eva, additional

Published
2021
Full Text
View/download PDF

14. Epidemiology of Pierre‐Robin sequence in Europe: A population‐based EUROCAT study

Author

Santoro, Michele, primary, Coi, Alessio, additional, Barišić, Ingeborg, additional, Pierini, Anna, additional, Addor, Marie‐Claude, additional, Baldacci, Silvia, additional, Ballardini, Elisa, additional, Boban, Ljubica, additional, Braz, Paula, additional, Cavero‐Carbonell, Clara, additional, de Walle, Hermien E. K., additional, Draper, Elizabeth S., additional, Gatt, Miriam, additional, Haeusler, Martin, additional, Klungsøyr, Kari, additional, Kurinczuk, Jennifer J., additional, Materna‐Kiryluk, Anna, additional, Lanzoni, Monica, additional, Lelong, Nathalie, additional, Luyt, Karen, additional, Mokoroa, Olatz, additional, Mullaney, Carmel, additional, Nelen, Vera, additional, O’Mahony, Mary T., additional, Perthus, Isabelle, additional, Randrianaivo, Hanitra, additional, Rankin, Judith, additional, Rissmann, Anke, additional, Rouget, Florence, additional, Schaub, Bruno, additional, Tucker, David, additional, Wellesley, Diana, additional, Zymak‐Zakutnia, Nataliia, additional, and Garne, Ester, additional

Published
2021
Full Text
View/download PDF

15. Maternal risk factors for the VACTERL association: A EUROCAT case–control study

Author

van de Putte, Romy, primary, van Rooij, Iris A.L.M., additional, Haanappel, Cynthia P., additional, Marcelis, Carlo L.M., additional, Brunner, Han G., additional, Addor, Marie‐Claude, additional, Cavero‐Carbonell, Clara, additional, Dias, Carlos M., additional, Draper, Elizabeth S., additional, Etxebarriarteun, Larraitz, additional, Gatt, Miriam, additional, Khoshnood, Babak, additional, Kinsner‐Ovaskainen, Agnieszka, additional, Klungsoyr, Kari, additional, Kurinczuk, Jenny J., additional, Latos‐Bielenska, Anna, additional, Luyt, Karen, additional, O'Mahony, Mary T., additional, Miller, Nicola, additional, Mullaney, Carmel, additional, Nelen, Vera, additional, Neville, Amanda J., additional, Perthus, Isabelle, additional, Pierini, Anna, additional, Randrianaivo, Hanitra, additional, Rankin, Judith, additional, Rissmann, Anke, additional, Rouget, Florence, additional, Schaub, Bruno, additional, Tucker, David, additional, Wellesley, Diana, additional, Wiesel, Awi, additional, Zymak‐Zakutnia, Natalya, additional, Loane, Maria, additional, Barisic, Ingeborg, additional, de Walle, Hermien E.K., additional, Bergman, Jorieke E.H., additional, and Roeleveld, Nel, additional

Published
2020
Full Text
View/download PDF

16. Multilevel analyses of related public health indicators: The European Surveillance of Congenital Anomalies (EUROCAT) Public Health Indicators

Author

Best, Kate E., primary, Rankin, Judith, additional, Dolk, Helen, additional, Loane, Maria, additional, Haeusler, Martin, additional, Nelen, Vera, additional, Verellen‐Dumoulin, Christine, additional, Garne, Ester, additional, Sayers, Gerardine, additional, Mullaney, Carmel, additional, O'Mahony, Mary T., additional, Gatt, Miriam, additional, De Walle, Hermien, additional, Klungsoyr, Kari, additional, Carolla, Olatz Mokoroa, additional, Cavero‐Carbonell, Clara, additional, Kurinczuk, Jennifer J., additional, Draper, Elizabeth S., additional, Tucker, David, additional, Wellesley, Diana, additional, Zymak‐Zakutnia, Nataliia, additional, Lelong, Nathalie, additional, and Khoshnood, Babak, additional

Published
2020
Full Text
View/download PDF

17. Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study

Author

van de Putte, Romy, primary, van Rooij, Iris A. L. M., additional, Marcelis, Carlo L. M., additional, Guo, Michel, additional, Brunner, Han G., additional, Addor, Marie-Claude, additional, Cavero-Carbonell, Clara, additional, Dias, Carlos M., additional, Draper, Elizabeth S., additional, Etxebarriarteun, Larraitz, additional, Gatt, Miriam, additional, Haeusler, Martin, additional, Khoshnood, Babak, additional, Klungsoyr, Kari, additional, Kurinczuk, Jenny J., additional, Lanzoni, Monica, additional, Latos-Bielenska, Anna, additional, Luyt, Karen, additional, O’Mahony, Mary T., additional, Miller, Nicola, additional, Mullaney, Carmel, additional, Nelen, Vera, additional, Neville, Amanda J., additional, Perthus, Isabelle, additional, Pierini, Anna, additional, Randrianaivo, Hanitra, additional, Rankin, Judith, additional, Rissmann, Anke, additional, Rouget, Florence, additional, Schaub, Bruno, additional, Tucker, David, additional, Wellesley, Diana, additional, Wiesel, Awi, additional, Zymak-Zakutnia, Natalya, additional, Loane, Maria, additional, Barisic, Ingeborg, additional, de Walle, Hermien E. K., additional, Roeleveld, Nel, additional, and Bergman, Jorieke E. H., additional

Published
2019
Full Text
View/download PDF

18. Epidemiology of achondroplasia: A population‐based study in Europe

Author

Coi, Alessio, primary, Santoro, Michele, additional, Garne, Ester, additional, Pierini, Anna, additional, Addor, Marie‐Claude, additional, Alessandri, Jean‐Luc, additional, Bergman, Jorieke E. H., additional, Bianchi, Fabrizio, additional, Boban, Ljubica, additional, Braz, Paula, additional, Cavero‐Carbonell, Clara, additional, Gatt, Miriam, additional, Haeusler, Martin, additional, Klungsøyr, Kari, additional, Kurinczuk, Jennifer J., additional, Lanzoni, Monica, additional, Lelong, Nathalie, additional, Luyt, Karen, additional, Mokoroa, Olatz, additional, Mullaney, Carmel, additional, Nelen, Vera, additional, Neville, Amanda J., additional, O'Mahony, Mary T., additional, Perthus, Isabelle, additional, Rankin, Judith, additional, Rissmann, Anke, additional, Rouget, Florence, additional, Schaub, Bruno, additional, Tucker, David, additional, Wellesley, Diana, additional, Wisniewska, Katarzyna, additional, Zymak‐Zakutnia, Nataliia, additional, and Barišić, Ingeborg, additional

Published
2019
Full Text
View/download PDF

19. Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study

Author

Morris, Joan K, primary, Wellesley, Diana G, additional, Barisic, Ingeborg, additional, Addor, Marie-Claude, additional, Bergman, Jorieke E H, additional, Braz, Paula, additional, Cavero-Carbonell, Clara, additional, Draper, Elizabeth S, additional, Gatt, Miriam, additional, Haeusler, Martin, additional, Klungsoyr, Kari, additional, Kurinczuk, Jennifer J, additional, Lelong, Natalie, additional, Luyt, Karen, additional, Lynch, Catherine, additional, O’Mahony, Mary T, additional, Mokoroa, Olatz, additional, Nelen, Vera, additional, Neville, Amanda J, additional, Pierini, Anna, additional, Randrianaivo, Hanitra, additional, Rankin, Judith, additional, Rissmann, Anke, additional, Rouget, Florence, additional, Schaub, Bruno, additional, Tucker, David F, additional, Verellen-Dumoulin, Christine, additional, Wiesel, Awi, additional, Zymak-Zakutnia, Natalia, additional, Lanzoni, Monica, additional, and Garne, Ester, additional

Published
2019
Full Text
View/download PDF

21. Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study

Author

Santoro, Michele, primary, Coi, Alessio, additional, Barišić, Ingeborg, additional, Garne, Ester, additional, Addor, Marie-Claude, additional, Bergman, Jorieke E.H., additional, Bianchi, Fabrizio, additional, Boban, Ljubica, additional, Braz, Paula, additional, Cavero-Carbonell, Clara, additional, Gatt, Miriam, additional, Haeusler, Martin, additional, Kinsner-Ovaskainen, Agnieszka, additional, Klungsøyr, Kari, additional, Kurinczuk, Jennifer J., additional, Lelong, Nathalie, additional, Luyt, Karen, additional, Materna-Kiryluk, Anna, additional, Mokoroa, Olatz, additional, Mullaney, Carmel, additional, Nelen, Vera, additional, Neville, Amanda Julie, additional, O’Mahony, Mary T., additional, Perthus, Isabelle, additional, Randrianaivo, Hanitra, additional, Rankin, Judith, additional, Rissmann, Anke, additional, Rouget, Florence, additional, Schaub, Bruno, additional, Tucker, David, additional, Wellesley, Diana, additional, Yevtushok, Lyubov, additional, and Pierini, Anna, additional

Published
2019
Full Text
View/download PDF

22. Maternal risk factors for the VACTERL association: A EUROCAT case–control study.

Author

Putte, Romy, Rooij, Iris A.L.M., Haanappel, Cynthia P., Marcelis, Carlo L.M., Brunner, Han G., Addor, Marie‐Claude, Cavero‐Carbonell, Clara, Dias, Carlos M., Draper, Elizabeth S., Etxebarriarteun, Larraitz, Gatt, Miriam, Khoshnood, Babak, Kinsner‐Ovaskainen, Agnieszka, Klungsoyr, Kari, Kurinczuk, Jenny J., Latos‐Bielenska, Anna, Luyt, Karen, O'Mahony, Mary T., Miller, Nicola, and Mullaney, Carmel

Abstract

Background The VACTERL association (VACTERL) is the nonrandom occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. Despite suggestions for involvement of several genes and nongenetic risk factors from small studies, the etiology of VACTERL remains largely unknown. Objective To identify maternal risk factors for VACTERL in offspring in a large European study. 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. Cases were diagnosed with VACTERL, while controls had a genetic syndrome and/or chromosomal abnormality. Data collected included type of birth defect and maternal characteristics, such as age, use of assisted reproductive techniques (ART), and chronic illnesses. Multivariable logistic regression analyses were performed to estimate confounder adjusted odds ratios (aOR) with 95% confidence intervals (95% CI). Results: The study population consisted of 329 VACTERL cases and 49,724 controls with recognized syndromes or chromosomal abnormality. For couples who conceived through ART, we found an increased risk of VACTERL (aOR 2.3 [95% CI 1.3, 3.9]) in offspring. Pregestational diabetes (aOR 3.1 [95% CI 1.1, 8.6]) and chronic lower obstructive pulmonary diseases (aOR 3.9 [95% CI 2.2, 6.7]) also increased the risk of having a child with VACTERL. Twin pregnancies were not associated with VACTERL (aOR 0.6 [95% CI 0.3, 1.4]). Conclusion: We identified several maternal risk factors for VACTERL in offspring befitting a multifactorial etiology. [ABSTRACT FROM AUTHOR]

Published
2020
Full Text
View/download PDF

23. Prevalence of microcephaly in Europe: population based study

Author

Morris, Joan K, primary, Rankin, Judith, additional, Garne, Ester, additional, Loane, Maria, additional, Greenlees, Ruth, 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, Gatt, Miriam, additional, Khoshnood, Babak, additional, Klungsoyr, Kari, additional, Kurinczuk, Jennifer J, additional, Lynch, Catherine, additional, McDonnell, Robert, additional, Nelen, Vera, additional, Neville, Amanda J, additional, O’Mahony, Mary T, additional, Pierini, Anna, additional, Randrianaivo, Hanitra, additional, Rissmann, Anke, additional, Tucker, David, additional, Verellen-Dumoulin, Christine, additional, de Walle, Hermien E K, additional, Wellesley, Diana, additional, Wiesel, Awi, additional, and Dolk, Helen, additional

Published
2016
Full Text
View/download PDF

24. Epidemiology of aplasia cutis congenita: A population-based study in Europe.

Author

Coi A, Barisic I, Garne E, Pierini A, Addor MC, Aizpurua Atxega A, Ballardini E, Braz P, Broughan JM, Cavero-Carbonell C, de Walle HEK, Draper ES, Gatt M, Häusler M, Kinsner-Ovaskainen A, Kurinczuk JJ, Lelong N, Luyt K, Mezzasalma L, Mullaney C, Nelen V, Odak L, O'Mahony MT, Perthus I, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wiśniewska K, Yevtushok L, and Santoro M

Subjects
Infant, Newborn, Humans, Europe epidemiology, Skin, Ectodermal Dysplasia epidemiology, Ectodermal Dysplasia genetics, Limb Deformities, Congenital, Scalp Dermatoses
Abstract

Background: Aplasia cutis congenita (ACC) is a rare congenital anomaly characterized by localized or widespread absence of skin at birth, mainly affecting the scalp. Most information about ACC exists as individual case reports and medium-sized studies., Objectives: This study aimed to investigate the epidemiology of ACC, using data from a large European network of population-based registries for congenital anomalies (EUROCAT)., Methods: Twenty-eight EUROCAT population-based registries in 16 European countries were involved. Poisson regression models were exploited to estimate the overall and live birth prevalence, to test time trends in prevalence between four 5-year periods and to evaluate the impact of the change of coding for ACC from the unspecific ICD9-BPA code to the specific ICD10 code. Proportions of ACC cases associated with other anomalies were reported., Results: Five hundred cases were identified in the period 1998-2017 (prevalence: 5.10 per 100,000 births). Prevalence across 5-year periods did not differ significantly and no significant differences were evident due to the change from ICD9 to ICD10 in ACC coding. Heterogeneity in prevalence was observed across registries. The scalp was the most common site for ACC (96.4%) and associated congenital anomalies were present in 33.8% of cases. Patau and Adams-Oliver syndromes were the most frequent among the associated chromosomal anomalies (88.3%) and the associated genetic syndromes (57.7%), respectively. 16% of cases were associated with limb anomalies and 15.4% with congenital heart defects. A family history of ACC was found in 2% of cases., Conclusion: To our knowledge, this is the only population-based study on ACC. The EUROCAT methodologies provide reliable prevalence estimates and proportions of associated anomalies., (© 2022 European Academy of Dermatology and Venereology.)

Published
2023
Full Text
View/download PDF

25. Long term trends in prevalence of neural tube defects in Europe: population based study.

Author

Khoshnood B, Loane M, de Walle H, Arriola L, Addor MC, Barisic I, Beres J, Bianchi F, Dias C, Draper E, Garne E, Gatt M, Haeusler M, Klungsoyr K, Latos-Bielenska A, Lynch C, McDonnell B, Nelen V, Neville AJ, O'Mahony MT, Queisser-Luft A, Rankin J, Rissmann A, Ritvanen A, Rounding C, Sipek A, Tucker D, Verellen-Dumoulin C, Wellesley D, and Dolk H

Subjects
Abortion, Eugenic statistics & numerical data, Europe epidemiology, Female, Fetal Death, Food Assistance, Humans, Live Birth epidemiology, Needs Assessment, Policy Making, Pregnancy, Pregnancy Outcome epidemiology, Prevalence, Vitamin B Complex therapeutic use, Dietary Supplements statistics & numerical data, Folic Acid therapeutic use, Neural Tube Defects epidemiology, Neural Tube Defects prevention & control, Pregnancy Complications epidemiology, Pregnancy Complications etiology, Pregnancy Complications prevention & control
Abstract

Study Question: What are the long term trends in the total (live births, fetal deaths, and terminations of pregnancy for fetal anomaly) and live birth prevalence of neural tube defects (NTD) in Europe, where many countries have issued recommendations for folic acid supplementation but a policy for mandatory folic acid fortification of food does not exist?, Methods: This was a population based, observational study using data on 11,353 cases of NTD not associated with chromosomal anomalies, including 4162 cases of anencephaly and 5776 cases of spina bifida from 28 EUROCAT (European Surveillance of Congenital Anomalies) registries covering approximately 12.5 million births in 19 countries between 1991 and 2011. The main outcome measures were total and live birth prevalence of NTD, as well as anencephaly and spina bifida, with time trends analysed using random effects Poisson regression models to account for heterogeneities across registries and splines to model non-linear time trends., Summary Answer and Limitations: Overall, the pooled total prevalence of NTD during the study period was 9.1 per 10,000 births. Prevalence of NTD fluctuated slightly but without an obvious downward trend, with the final estimate of the pooled total prevalence of NTD in 2011 similar to that in 1991. Estimates from Poisson models that took registry heterogeneities into account showed an annual increase of 4% (prevalence ratio 1.04, 95% confidence interval 1.01 to 1.07) in 1995-99 and a decrease of 3% per year in 1999-2003 (0.97, 0.95 to 0.99), with stable rates thereafter. The trend patterns for anencephaly and spina bifida were similar, but neither anomaly decreased substantially over time. The live birth prevalence of NTD generally decreased, especially for anencephaly. Registration problems or other data artefacts cannot be excluded as a partial explanation of the observed trends (or lack thereof) in the prevalence of NTD., What This Study Adds: 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., Funding, Competing Interests, Data Sharing: The study was funded by the European Public Health Commission, EUROCAT Joint Action 2011-2013. HD and ML received support from the European Commission DG Sanco during the conduct of this study. No additional data available., (© Khoshnood et al 2015.)

Published
2015
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results