135 results on '"Bergman, Jorieke"'
Search Results
2. Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study
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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.
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- 2020
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3. Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe
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Barisic, Ingeborg, Boban, Ljubica, Akhmedzhanova, Diana, Bergman, Jorieke E.H., Cavero-Carbonell, Clara, Grinfelde, Ieva, Materna-Kiryluk, Anna, Latos-Bieleńska, Anna, Randrianaivo, Hanitra, Zymak-Zakutnya, Natalya, Sansovic, Ivona, Lanzoni, Monica, and Morris, Joan K.
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- 2018
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4. Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – A EUROCAT study
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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.
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- 2018
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5. Drug Utilization Studies in Pregnant Women for Newly Licensed Medicinal Products: A Contribution from IMI ConcePTION.
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Lopez-Leon, Sandra, Geldhof, Anja, Scotto, Julie, Wurst, Keele, Sabidó, Meritxell, Mo, Jingping, Molgaard-Nielsen, Ditte, Bergman, Jorieke E. H., Phi, Xuan Anh, and Jordan, Sue
- Abstract
Purpose. Studies focusing on safety outcomes typically require large populations to comprehensively characterise the patient groups exposed to the medicines under investigation. However, there is often less information for subpopulations, such as pregnant or breastfeeding women, particularly when new medicines are considered. It is important to understand what information can be obtained from drug utilization studies (DUS) involving pregnant women in the early years postmarketing to provide supportive information for safety studies. The aims of this literature review are to (1) identify and review DUS for new medicines in pregnancy and breastfeeding and (2) list and summarise key information items to be reported in a DUS for new medicines in pregnancy. Methods. To identify postmarketing DUS of new prescription medicines or enantiomers in pregnancy, a systematic literature review was undertaken in PubMed and Embase between January 2015 and June 2022. In addition, the complete database of the ENCePP EU PAS Register was systematically searched to June 2022. Results. We identified 11 published DUS on new medicines in pregnancy from the ENCePP EU PAS Register and none from other sources. No studies on breastfeeding were identified. The 11 identified publications reported the medicine's use for the first 3 to 5 years after marketing approval. No reports assessed utilization in the first 3 years of approval. It was usual to issue interim reports annually (7 studies). All studies concerned conditions managed in ambulatory care (primary care and outpatient facilities) and included some primary care prescribing. Most (n = 8) only had prescribing/dispensing data available at individual level for ambulatory care; outpatient prescribing was included in three of these studies Three studies held a limited amount of in-hospital prescribing data. A DUS can confirm at an early stage whether there are sufficient exposed pregnancies in available data sources to ensure a safety study is powered to detect a difference in the prevalence of adverse pregnancy or infant outcomes or if additional data from other databases are needed. A DUS may also help address methodological considerations such as selection of comparators. DUS can be performed embedded in a DUS in the general population, in a cohort of women of childbearing age, or in a cohort of pregnant women. Conclusion. This review summarises key aspects of a DUS for new medicines in pregnancy. DUS for new medicines in pregnancy should be planned before marketing, scheduled for the first 3 to 5 years after release, with annual interim/progress reports, and reported in peer-reviewed journals. By offering detailed information on data sources, exposure timing, prevalence and location, coprescribing, comorbidities, coexposures, and demographics, a DUS will offer a firm foundation for safety studies and will help to contextualize spontaneous reporting of serious adverse events. [ABSTRACT FROM AUTHOR]
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- 2024
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6. Reported congenital malformations after exposure to non‐tumour necrosis factor inhibitor biologics: A retrospective comparative study in EudraVigilance
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Ghalandari, Nafise, primary, Crijns, Hubertina J. M. J., additional, Bergman, Jorieke E. H., additional, Dolhain, Radboud J. E. M., additional, van Puijenbroek, Eugène P., additional, and Hazes, Johanna M. W., additional
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- 2022
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7. From Inception to ConcePTION: Genesis of a Network to Support Better Monitoring and Communication of Medication Safety During Pregnancy and Breastfeeding
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Afd Pharmacoepi & Clinical Pharmacology, Pharmacoepidemiology and Clinical Pharmacology, Thurin, Nicolas H, Pajouheshnia, Romin, Roberto, Giuseppe, Dodd, Caitlin, Hyeraci, Giulia, Bartolini, Claudia, Paoletti, Olga, Nordeng, Hedvig, Wallach-Kildemoes, Helle, Ehrenstein, Vera, Dudukina, Elena, MacDonald, Thomas, De Paoli, Giorgia, Loane, Maria, Damase-Michel, Christine, Beau, Anna-Belle, Droz-Perroteau, Cécile, Lassalle, Régis, Bergman, Jorieke, Swart, Karin, Schink, Tania, Cavero-Carbonell, Clara, Barrachina-Bonet, Laia, Gomez-Lumbreras, Ainhoa, Giner-Soriano, Maria, Aragón, María, Neville, Amanda J, Puccini, Aurora, Pierini, Anna, Ientile, Valentina, Trifirò, Gianluca, Rissmann, Anke, Leinonen, Maarit K, Martikainen, Visa, Jordan, Sue, Thayer, Daniel, Scanlon, Ieuan, Georgiou, Mary E, Cunnington, Marianne, Swertz, Morris, Sturkenboom, Miriam, Gini, Rosa, Afd Pharmacoepi & Clinical Pharmacology, Pharmacoepidemiology and Clinical Pharmacology, Thurin, Nicolas H, Pajouheshnia, Romin, Roberto, Giuseppe, Dodd, Caitlin, Hyeraci, Giulia, Bartolini, Claudia, Paoletti, Olga, Nordeng, Hedvig, Wallach-Kildemoes, Helle, Ehrenstein, Vera, Dudukina, Elena, MacDonald, Thomas, De Paoli, Giorgia, Loane, Maria, Damase-Michel, Christine, Beau, Anna-Belle, Droz-Perroteau, Cécile, Lassalle, Régis, Bergman, Jorieke, Swart, Karin, Schink, Tania, Cavero-Carbonell, Clara, Barrachina-Bonet, Laia, Gomez-Lumbreras, Ainhoa, Giner-Soriano, Maria, Aragón, María, Neville, Amanda J, Puccini, Aurora, Pierini, Anna, Ientile, Valentina, Trifirò, Gianluca, Rissmann, Anke, Leinonen, Maarit K, Martikainen, Visa, Jordan, Sue, Thayer, Daniel, Scanlon, Ieuan, Georgiou, Mary E, Cunnington, Marianne, Swertz, Morris, Sturkenboom, Miriam, and Gini, Rosa
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- 2022
8. Reported congenital malformations after exposure to non-tumour necrosis factor inhibitor biologics:A retrospective comparative study in EudraVigilance
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Ghalandari, Nafise, Crijns, Hubertina J. M. J., Bergman, Jorieke E. H., Dolhain, Radboud J. E. M., van Puijenbroek, Eugene P., Hazes, Johanna M. W., Ghalandari, Nafise, Crijns, Hubertina J. M. J., Bergman, Jorieke E. H., Dolhain, Radboud J. E. M., van Puijenbroek, Eugene P., and Hazes, Johanna M. W.
- Abstract
Aims To evaluate the number and nature of reported congenital malformations (CMs) after intrauterine exposure to non-tumour necrosis factor inhibitor biologics (non-TNFi biologics) compared to certolizumab pegol (CZP). Methods A retrospective comparative study was conducted in the EudraVigilance (EV) database. A safe biologic (CZP) was considered as the reference group. Odds ratios (ORs) for CMs were calculated for each non-TNFi biologic (including abatacept, anakinra, belimumab, ixekizumab, rituximab, secukinumab, tocilizumab, ustekinumab and vedolizumab), versus CZP (quantitative assessment). Then, CM patterns were reviewed in consultation with a clinical geneticist (qualitative assessment). Results ORs were not statistically significant except for belimumab and vedolizumab (similar in magnitude). Except for vedolizumab, no specific CM patterns were observed for the included non-TNFi biologics. Three cases of corpus callosum agenesis (CCA) were identified for vedolizumab (versus none in CZP and other investigated non-TNFi biologics). Two of the CCA cases were associated with other neurological CMs (one cerebral ventriculomegaly with microcephaly and one polymicrogyria). This may indicate that these CCAs are related to undiagnosed genetic alterations or are associated with the underlying maternal disease, although a definite relationship with vedolizumab exposure cannot be ruled out. Conclusion No special safety signal was identified regarding the occurrence of CMs after exposure to abatacept (n = 64), anakinra (n = 20), belimumab (n = 93), ixekizumab (n = 29), rituximab (n = 57), secukinumab (n = 128), tocilizumab (n = 124) and ustekinumab (n = 215). Regarding observed CCAs in the vedolizumab group (n = 113), no firm conclusions can be made based on available information.
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- 2022
9. From Inception to ConcePTION: Genesis of a Network to Support Better Monitoring and Communication of Medication Safety During Pregnancy and Breastfeeding
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Data Science & Biostatistiek, Thurin, Nicolas H, Pajouheshnia, Romin, Roberto, Giuseppe, Dodd, Caitlin, Hyeraci, Giulia, Bartolini, Claudia, Paoletti, Olga, Nordeng, Hedvig, Wallach-Kildemoes, Helle, Ehrenstein, Vera, Dudukina, Elena, MacDonald, Thomas, De Paoli, Giorgia, Loane, Maria, Damase-Michel, Christine, Beau, Anna-Belle, Droz-Perroteau, Cécile, Lassalle, Régis, Bergman, Jorieke, Swart, Karin, Schink, Tania, Cavero-Carbonell, Clara, Barrachina-Bonet, Laia, Gomez-Lumbreras, Ainhoa, Giner-Soriano, Maria, Aragón, María, Neville, Amanda J, Puccini, Aurora, Pierini, Anna, Ientile, Valentina, Trifirò, Gianluca, Rissmann, Anke, Leinonen, Maarit K, Martikainen, Visa, Jordan, Sue, Thayer, Daniel, Scanlon, Ieuan, Georgiou, Mary E, Cunnington, Marianne, Swertz, Morris, Sturkenboom, Miriam, Gini, Rosa, Data Science & Biostatistiek, Thurin, Nicolas H, Pajouheshnia, Romin, Roberto, Giuseppe, Dodd, Caitlin, Hyeraci, Giulia, Bartolini, Claudia, Paoletti, Olga, Nordeng, Hedvig, Wallach-Kildemoes, Helle, Ehrenstein, Vera, Dudukina, Elena, MacDonald, Thomas, De Paoli, Giorgia, Loane, Maria, Damase-Michel, Christine, Beau, Anna-Belle, Droz-Perroteau, Cécile, Lassalle, Régis, Bergman, Jorieke, Swart, Karin, Schink, Tania, Cavero-Carbonell, Clara, Barrachina-Bonet, Laia, Gomez-Lumbreras, Ainhoa, Giner-Soriano, Maria, Aragón, María, Neville, Amanda J, Puccini, Aurora, Pierini, Anna, Ientile, Valentina, Trifirò, Gianluca, Rissmann, Anke, Leinonen, Maarit K, Martikainen, Visa, Jordan, Sue, Thayer, Daniel, Scanlon, Ieuan, Georgiou, Mary E, Cunnington, Marianne, Swertz, Morris, Sturkenboom, Miriam, and Gini, Rosa
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- 2022
10. Maternal occupational exposure to solvents and gastroschisis in offspring - National Birth Defects Prevention Study 1997–2011
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Spinder, Nynke, Almli, Lynn M, Desrosiers, Tania A, Arnold, Kathryn E, Bergman, Jorieke E H, Kromhout, Hans, Boezen, H Marike, de Walle, Hermien E K, Rocheleau, Carissa, Reefhuis, Jennita, One Health Chemisch, dIRAS RA-2, Reproductive Origins of Adult Health and Disease (ROAHD), Groningen Research Institute for Asthma and COPD (GRIAC), Life Course Epidemiology (LCE), One Health Chemisch, and dIRAS RA-2
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Adult ,Male ,medicine.medical_specialty ,Offspring ,Cumulative Exposure ,Risk Assessment ,Young Adult ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Risk Factors ,Occupational Exposure ,medicine ,Humans ,030212 general & internal medicine ,Gastroschisis ,Pregnancy ,030219 obstetrics & reproductive medicine ,Obstetrics ,business.industry ,Infant, Newborn ,Public Health, Environmental and Occupational Health ,Infant ,medicine.disease ,United States ,Prevention Study ,Logistic Models ,PREGNANCY ,Telephone interview ,chemistry ,Maternal Exposure ,Case-Control Studies ,Multivariate Analysis ,Solvents ,RISK-FACTORS ,Female ,Self Report ,Occupational exposure ,Solvent exposure ,GENITOURINARY INFECTIONS ,business ,Maternal Age - Abstract
ObjectivesThe aim of this study was to assess the association between maternal occupational exposure to solvents and gastroschisis in offspring.MethodsWe used data from the National Birth Defects Prevention Study, a large population-based case-control study of major birth defects conducted in 10 US states from 1997 to 2011. Infants with gastroschisis were ascertained by active birth defects surveillance systems. Control infants without major birth defects were selected from vital records or birth hospital records. Self-reported maternal occupational histories were collected by telephone interview. Industrial hygienists reviewed this information to estimate exposure to aromatic, chlorinated and petroleum-based solvents from 1 month before conception through the first trimester of pregnancy. Cumulative exposure to solvents was estimated for the same period accounting for estimated exposure intensity and frequency, job duration and hours worked per week. ORs and 95% CIs were estimated to assess the association between exposure to any solvents or solvent classes, and gastroschisis risk.ResultsAmong 879 cases and 7817 controls, the overall prevalence of periconceptional solvent exposure was 7.3% and 7.4%, respectively. Exposure to any solvent versus no exposure to solvents was not associated with gastroschisis after adjusting for maternal age (OR 1.00, 95% CI 0.75 to 1.32), nor was an association noted for solvent classes. There was no exposure-response relationship between estimated cumulative solvent exposure and gastroschisis after adjusting for maternal age.ConclusionOur study found no association between maternal occupational solvent exposure and gastroschisis in offspring. Further research is needed to understand risk factors for gastroschisis.
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- 2020
11. From Inception to ConcePTION: Genesis of a Network to Support Better Monitoring and Communication of Medication Safety During Pregnancy and Breastfeeding
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Thurin, Nicolas H, Pajouheshnia, Romin, Roberto, Giuseppe, Dodd, Caitlin, Hyeraci, Giulia, Bartolini, Claudia, Paoletti, Olga, Nordeng, Hedvig, Wallach-Kildemoes, Helle, Ehrenstein, Vera, Dudukina, Elena, MacDonald, Thomas, De Paoli, Giorgia, Loane, Maria, Damase-Michel, Christine, Beau, Anna-Belle, Droz-Perroteau, Cécile, Lassalle, Régis, Bergman, Jorieke, Swart, Karin, Schink, Tania, Cavero-Carbonell, Clara, Barrachina-Bonet, Laia, Gomez-Lumbreras, Ainhoa, Giner-Soriano, Maria, Aragón, María, Neville, Amanda J, Puccini, Aurora, Pierini, Anna, Ientile, Valentina, Trifirò, Gianluca, Rissmann, Anke, Leinonen, Maarit K, Martikainen, Visa, Jordan, Sue, Thayer, Daniel, Scanlon, Ieuan, Georgiou, Mary E, Cunnington, Marianne, Swertz, Morris, Sturkenboom, Miriam, Gini, Rosa, Afd Pharmacoepi & Clinical Pharmacology, Pharmacoepidemiology and Clinical Pharmacology, Afd Pharmacoepi & Clinical Pharmacology, Pharmacoepidemiology and Clinical Pharmacology, Reproductive Origins of Adult Health and Disease (ROAHD), and Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)
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Risk ,Health Information Exchange ,Knowledge management ,Drug-Related Side Effects and Adverse Reactions ,Computer science ,Population ,Breastfeeding ,Information Storage and Retrieval ,Public health surveillance ,Pregnancy ,Health care ,Humans ,Pharmacology (medical) ,education ,RISK ,ConcePTION project-Building ,Pharmacology ,education.field_of_study ,ConcePTION project-Building, ConcePTION Common Data Model (CDM) ,business.industry ,Communication ,ConcePTION Common Data Model (CDM) ,Europe ,Metadata ,Breast Feeding ,Workflow ,Databases as Topic ,Content analysis ,Analytics ,Drug Information Services ,Female ,business - Abstract
In 2019, the Innovative Medicines Initiative (IMI) funded the ConcePTION project-Building an ecosystem for better monitoring and communicating safety of medicines use in pregnancy and breastfeeding: validated and regulatory endorsed workflows for fast, optimised evidence generation-with the vision that there is a societal obligation to rapidly reduce uncertainty about the safety of medication use in pregnancy and breastfeeding. The present paper introduces the set of concepts used to describe the European data sources involved in the ConcePTION project and illustrates the ConcePTION Common Data Model (CDM), which serves as the keystone of the federated ConcePTION network. Based on data availability and content analysis of 21 European data sources, the ConcePTION CDM has been structured with six tables designed to capture data from routine healthcare, three tables for data from public health surveillance activities, three curated tables for derived data on population (e.g., observation time and mother-child linkage), plus four metadata tables. By its first anniversary, the ConcePTION CDM has enabled 13 data sources to run common scripts to contribute to major European projects, demonstrating its capacity to facilitate effective and transparent deployment of distributed analytics, and its potential to address questions about utilization, effectiveness, and safety of medicines in special populations, including during pregnancy and breastfeeding, and, more broadly, in the general population.
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- 2022
12. Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome
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Bergman, Jorieke E.H., de Wijs, Ilse, Jongmans, Marjolijn C.J., Admiraal, Ronald J., Hoefsloot, Lies H., and van Ravenswaaij-Arts, Conny M.A.
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- 2008
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13. Surveillance of multiple congenital anomalies; searching for new associations
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Morris, Joan K., Bergman, Jorieke E. H., Barisic, Ingeborg, Wellesley, Diana, Tucker, David, Limb, Elizabeth, Addor, Marie-Claude, Cavero-Carbonell, Clara, Matias Dias, Carlos, Draper, Elisabeth S., Echevarría-González-de-Garibay, Luis Javier, Gatt, Miriam, Klungsøyr, Kari, Lelong, Nathalie, Luyt, Karen, Materna-Kiryluk, Anna, Nelen, Vera, Neville, Amanda, Perthus, Isabelle, Pierini, Anna, Randrianaivo-Ranjatoelina, Hanitra, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Sayers, Geraldine, Wertelecki, Wladimir, Kinsner-Ovaskainen, Agnieszka, and Garne, Ester
- Abstract
Many human teratogens are associated with a spectrum of congenital anomalies rather than a single defect, and therefore the identification of congenital anomalies occurring together more frequently than expected may improve the detection of teratogens. Thirty-two EUROCAT congenital anomaly registries covering 6,599,765 births provided 123,566 cases with one or more major congenital anomalies (excluding chromosomal and genetic syndromes) for the birth years 2008–2016. The EUROCAT multiple congenital anomaly algorithm identified 8804 cases with two or more major congenital anomalies in different organ systems, that were not recognized as part of a syndrome or sequence. For each pair of anomalies, the odds of a case having both anomalies relative to having only one anomaly was calculated and the pvalue was estimated using a two-sided Fisher’s exact test. The Benjamini–Hochberg procedure adjusted pvalues to control the false discovery rate and pairs of anomalies with adjusted pvalues < 0.05 were identified. A total of 1386 combinations of two anomalies were analyzed. Out of the 31 statistically significant positive associations identified, 20 were found to be known associations or sequences already described in the literature and 11 were considered “potential new associations” by the EUROCAT Coding and Classification Committee. After a review of the literature and a detailed examination of the individual cases with the anomaly pairs, six pairs remained classified as new associations. In summary, systematically searching for congenital anomalies occurring together more frequently than expected using the EUROCAT database is worthwhile and has identified six new associations that merit further investigation.
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- 2023
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14. Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study
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Putte, R. van de, Rooij, I.A.L.M. van, Marcelis, C.L.M., Guo, M., Brunner, H.G., Addor, Marie-Claude, Roeleveld, N., Bergman, Jorieke E. H., Putte, R. van de, Rooij, I.A.L.M. van, Marcelis, C.L.M., Guo, M., Brunner, H.G., Addor, Marie-Claude, Roeleveld, N., and Bergman, Jorieke E. H.
- Abstract
Contains fulltext : 217412.pdf (Publisher’s version ) (Closed access)
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- 2020
15. Maternal occupational exposure and congenital heart defects in offspring
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IRAS OH Epidemiology Chemical Agents, dIRAS RA-2, Spinder, Nynke, Bergman, Jorieke Eh, Kromhout, Hans, Vermeulen, Roel, Corsten-Janssen, Nicole, Boezen, H Marike, du Marchie Sarvaas, Gideon J, de Walle, Hermien Ek, IRAS OH Epidemiology Chemical Agents, dIRAS RA-2, Spinder, Nynke, Bergman, Jorieke Eh, Kromhout, Hans, Vermeulen, Roel, Corsten-Janssen, Nicole, Boezen, H Marike, du Marchie Sarvaas, Gideon J, and de Walle, Hermien Ek
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- 2020
16. Maternal occupational exposure to solvents and gastroschisis in offspring - National Birth Defects Prevention Study 1997-2011
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One Health Chemisch, dIRAS RA-2, Spinder, Nynke, Almli, Lynn M, Desrosiers, Tania A, Arnold, Kathryn E, Bergman, Jorieke E H, Kromhout, Hans, Boezen, H Marike, de Walle, Hermien E K, Rocheleau, Carissa, Reefhuis, Jennita, One Health Chemisch, dIRAS RA-2, Spinder, Nynke, Almli, Lynn M, Desrosiers, Tania A, Arnold, Kathryn E, Bergman, Jorieke E H, Kromhout, Hans, Boezen, H Marike, de Walle, Hermien E K, Rocheleau, Carissa, and Reefhuis, Jennita
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- 2020
17. Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene
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Bergman, Jorieke E.H., Veenstra-Knol, Hermine E., van Essen, Anthonie J., van Ravenswaaij, Conny M.A., den Dunnen, Wilfred F.A., van den Wijngaard, Arthur, and Peter van Tintelen, J.
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- 2007
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18. The Results of CHD7 Analysis in Clinically Well-Characterized Patients with Kallmann Syndrome
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Bergman, Jorieke E. H., de Ronde, Willem, Jongmans, Marjolijn C. J., Wolffenbuttel, Bruce H. R., Drop, Sten L. S., Hermus, Ad, Bocca, Gianni, Hoefsloot, Lies H., and van Ravenswaaij-Arts, Conny M. A.
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- 2012
19. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism
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Morava, Eva, Wevers, Ron A., Cantagrel, Vincent, Hoefsloot, Lies H., Al-Gazali, Lihadh, Schoots, Jeroen, van Rooij, Arno, Huijben, Karin, van Ravenswaaij-Arts, Connie M. A., Jongmans, Marjolein C. J., Sykut-Cegielska, Jolanta, Hoffmann, Georg F., Bluemel, Peter, Adamowicz, Maciej, van Reeuwijk, Jeroen, Ng, Bobby G., Bergman, Jorieke E. H., van Bokhoven, Hans, Körner, Christian, Babovic-Vuksanovic, Dusica, Willemsen, Michel A., Gleeson, Joseph G., Lehle, Ludwig, de Brouwer, Arjan P. M., and Lefeber, Dirk J.
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- 2010
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20. Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study
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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
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- 2019
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21. Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study
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Bakker, Marian K, primary, Bergman, Jorieke E H, additional, Krikov, Sergey, additional, Amar, Emmanuelle, additional, Cocchi, Guido, additional, Cragan, Janet, additional, de Walle, Hermien E K, additional, Gatt, Miriam, additional, Groisman, Boris, additional, Liu, Shiliang, additional, Nembhard, Wendy N, additional, Pierini, Anna, additional, Rissmann, Anke, additional, Chidambarathanu, Shanthi, additional, Sipek Jr, Antonin, additional, Szabova, Elena, additional, Tagliabue, Giovanna, additional, Tucker, David, additional, Mastroiacovo, Pierpaolo, additional, and Botto, Lorenzo D, additional
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- 2019
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22. Maternal occupational exposure and oral clefts in offspring
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Spinder, Nynke, Bergman, Jorieke E H, Boezen, H. Marike, Vermeulen, Roel C H, Kromhout, Hans, de Walle, Hermien E K, LS IRAS EEPI GRA (Gezh.risico-analyse), LS IRAS EEPI EXAS (Arb.hyg+bl.st.kar.), dIRAS RA-2, Reproductive Origins of Adult Health and Disease (ROAHD), Groningen Research Institute for Asthma and COPD (GRIAC), Life Course Epidemiology (LCE), LS IRAS EEPI GRA (Gezh.risico-analyse), LS IRAS EEPI EXAS (Arb.hyg+bl.st.kar.), and dIRAS RA-2
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Male ,ANOMALIES ,Congenital anomalies ,ORGANIC-SOLVENTS ,Health, Toxicology and Mutagenesis ,Dentistry ,Physiology ,0302 clinical medicine ,PESTICIDES ,Risk Factors ,030212 general & internal medicine ,POPULATION ,Netherlands ,education.field_of_study ,Teratology ,lcsh:Public aspects of medicine ,Congenital malformations ,Dust ,Occupational exposure ,030210 environmental & occupational health ,CONGENITAL-MALFORMATIONS ,Cleft Palate ,PREGNANCY ,Maternal Exposure ,Metals ,lcsh:Industrial medicine. Industrial hygiene ,Biological dust ,Environmental Pollutants ,Female ,NEURAL-TUBE DEFECTS ,Gases ,Job-exposure matrix ,Adult ,Adolescent ,Offspring ,Cleft Lip ,Population ,complex mixtures ,Mineral dust ,03 medical and health sciences ,lcsh:RC963-969 ,Young Adult ,Occupational Exposure ,medicine ,Journal Article ,Humans ,Pesticides ,education ,METAANALYSIS ,Pregnancy ,business.industry ,Research ,Public Health, Environmental and Occupational Health ,Case-control study ,Infant, Newborn ,Infant ,OROFACIAL CLEFTS ,lcsh:RA1-1270 ,Newborn ,medicine.disease ,respiratory tract diseases ,Case-Control Studies ,Solvents ,RISK-FACTORS ,business - Abstract
Background: Previous studies suggest that periconceptional maternal occupational exposure to solvents and pesticides increase the risk of oral clefts in the offspring. Less is known about the effect of occupational exposure to metals, dust, and gases and fumes on development of oral clefts.Methods: This case-malformed control study used data from a population-based birth defects registry (Eurocat) of children and foetuses born in the Northern Netherlands between 1997 and 2013. Cases were defined as non-syndromic oral clefts. The first control group had chromosomal/monogenic defects, and the second control group was defined as non-chromosomal/non-monogenic malformed controls. Maternal occupational exposure was estimated through linkage of mothers' occupation with a community-based Job Exposure Matrix (JEM). Multivariate logistic regression was used to estimate the effect of occupational exposures. Odds ratios were adjusted (aORs) for relevant confounders.Results: A total of 387 cases, 1135 chromosomal and 4352 non-chromosomal malformed controls were included in this study. Prevalence of maternal occupational exposures to all agents was 43.9% and 41.0%/37.7% among cases and controls, respectively. Oral clefts had significantly increased ORs of maternal occupational exposure to pesticides (aOR = 1.7, 95% confidence interval [CI] 1.0-3.1) and dust (aOR = 1.3, 95% CI 1.1-1.6) when using non-chromosomal controls. Subgroup analysis for CL(P) stratified by gender showed a significantly increased risk for male infants exposed to 'other solvents' and exposure to mineral dust for female infants.Conclusion: Our study showed that maternal occupational exposure to pesticides and dust are risk factors for oral clefts in the offspring. Larger studies are needed to confirm this finding.
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- 2017
23. Exposure to reactive intermediate-inducing drugs during pregnancy and the incident use of psychotropic medications among children
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Tran, Yen-Hao, Groen, Henk, Bergman, Jorieke E H, Hak, Eelko, Wilffert, Bob, PharmacoTherapy, -Epidemiology and -Economics, Methods in Medicines evaluation & Outcomes research (M2O), Reproductive Origins of Adult Health and Disease (ROAHD), Microbes in Health and Disease (MHD), Value, Affordability and Sustainability (VALUE), and Real World Studies in PharmacoEpidemiology, -Genetics, -Economics and -Therapy (PEGET)
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EVENTS ,drug exposure ,pharmacoepidemiology ,psychotropic medications ,folic acid antagonism ,SCHIZOPHRENIA ,reactive intermediates ,pregnancy ,FOLIC-ACID ,OXIDATIVE STRESS ,BRAIN - Abstract
Purpose Our study aimed to investigate the association between prenatal exposure to reactive intermediate (RI)-inducing drugs and the initiation of psychotropic medications among children. Methods We designed a cohort study using a pharmacy prescription database. Pregnant women were considered exposed when they received a prescription of RI-inducing drugs. These drugs could be either used alone (-I+/FAA-) or combined with drugs exhibiting folic acid antagonism (FAA, RI+/FAA+). The reference group included pregnant women who did not receive any RI-inducing drugs or FAA drugs. Results We analyzed 4116 exposed and 30 422 reference pregnancies. The hazard ratio (HR) with 95% confidence interval (CI) was 1.27 (95% CI 1.15-1.41) for pregnancies exposed to RI-inducing drugs as a whole. Considering subgroups of RI-inducing drugs, prenatal exposure to both RI+/FAA+ and RI+/FAA- was associated with the children's initiation of psychotropic medications, HRs being 1.35 (95% CI 1.10-1.66) and 1.26 (1.13-1.41), respectively. The HRs were increased with prolonged exposure to RI-inducing drugs, especially in the first and second trimesters. In a detailed examination of the psychotropics, the incidences of receiving antimigraine preparations and psychostimulants were significantly increased for the exposed children, compared with the reference children. The incidences of receiving antipsychotics and hypnotics were also higher for the exposed children; however, the HRs did not reach significance after adjustment. Conclusions We found a significantly increased incident use of psychotropic medications among children prenatally exposed to RI-inducing drugs, especially during the first and second trimesters. This suggests a detrimental effect during critical periods of brain development. Copyright (C) 2017 John Wiley & Sons, Ltd.
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- 2017
24. 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)
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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
25. Maternal smoking and lack of folic acid supplement use during the periconceptional period as risk factors for the VACTERL association using data of the AGORA data- and Biobank and the EUROCAT Northern Netherlands registry
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van de Putte, Romy, primary, van Hooijdonk, Kirsten, additional, de Blaauw, Ivo, additional, Bergman, Jorieke E.H., additional, de Walle, Hermien E.K., additional, Roeleveld, Nel, additional, and van Rooij, Iris A.L.M., additional
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- 2018
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26. Maternal diabetes and assisted reproductive techniques as maternal risk factors for the VACTERL association using data of EUROCAT registries and the distribution of VACTERL anomalies among VACTERL patients of EUROCAT
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van de Putte, Romy, primary, van Rooij, Iris A.L.M., additional, Roeleveld, Nel, additional, Loane, Maria, additional, Barisic, Ingeborg, additional, Bergman, Jorieke E.H., additional, and de Walle, Hermien E.K., additional
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- 2018
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27. 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
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28. Maternal occupational exposure and oral clefts in offspring
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LS IRAS EEPI GRA (Gezh.risico-analyse), LS IRAS EEPI EXAS (Arb.hyg+bl.st.kar.), dIRAS RA-2, Spinder, Nynke, Bergman, Jorieke E H, Boezen, H. Marike, Vermeulen, Roel C H, Kromhout, Hans, de Walle, Hermien E K, LS IRAS EEPI GRA (Gezh.risico-analyse), LS IRAS EEPI EXAS (Arb.hyg+bl.st.kar.), dIRAS RA-2, Spinder, Nynke, Bergman, Jorieke E H, Boezen, H. Marike, Vermeulen, Roel C H, Kromhout, Hans, and de Walle, Hermien E K
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- 2017
29. When the Right (Drug) Should Be Left: Prenatal Drug Exposure and Heterotaxy Syndrome
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van Veenendaal, Nicole R., Kusters, Cynthia D. J., Oostra, Roelof-Jan, Bergman, Jorieke E. H., Cobben, Jan-Maarten, Reproductive Origins of Adult Health and Disease (ROAHD), Graduate School, Amsterdam Cardiovascular Sciences, Medical Biology, General Paediatrics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Paediatric Genetics, and Other Research
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CONGENITAL HEART-DEFECTS ,ANOMALIES ,NEWBORNS ,CASE-CONTROL SURVEILLANCE ,prenatal drug exposure ,PREVALENCE ,propylthiouracil ,PREGNANCY ,TRISOMY-21 ,BIRTH-DEFECTS ,heterotaxy syndrome ,MATERNAL AGE ,DOWN-SYNDROME ,teratology - Abstract
Recent studies reported an association between prenatal propylthiouracil exposure and birth defects, including abnormal arrangement across the left-right body axis, suggesting an association with heterotaxy syndrome. This case-control and case-finding study used data from 1981 to 2013 from the EUROCAT birth defect registry in the Northern Netherlands. First, we explored prenatal exposures in heterotaxy syndrome (cases) and Down syndrome (controls). Second, we describe the specific birth defects in offspring of mothers using propylthiouracil (PTU) prenatally. A total of 66 cases with heterotaxy syndrome (incidence 12.1 per 100,000 pregnancies) and 783 controls with Down syndrome (143.3 per 100,000 pregnancies) were studied. No differences in intoxication use during pregnancy were found between cases and controls, including smoking (28.0% vs. 22.7%; p = 0.40), alcohol (14.0% vs. 26.9%; p = 0.052), and recreational drugs (0 vs. 0.3%; p = 1.00). We found an association between heterotaxy syndrome and prenatal drug exposure to follitropin-alfa (5.6% vs. 1.1%; p = 0.04), and drugs used in nicotine dependence (3.7% vs. 0.2%; p = 0.02). Five mothers used PTU during pregnancy and gave birth to a child with trisomy 18, renal abnormalities, or hypospadias and cardiac defects. This study identified follitropin-alfa and drugs used in nicotine dependence as possible teratogens of heterotaxy syndrome. Our data suggest the possibility that there is an increased risk of birth defects (including renal, urological, and cardiac abnormalities) in children born among mothers taking PTU prenatally, but not for heterotaxy syndrome. Birth Defects Research (Part A) 106:573-579, 2016. © 2016 Wiley Periodicals, Inc
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- 2016
30. Prenatal exposure to serotonin reuptake inhibitors and congenital heart anomalies: an exploratory pharmacogenetics study
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Daud, Aizati N A, primary, Bergman, Jorieke E H, additional, Kerstjens-Frederikse, Wilhelmina S, additional, van der Vlies, Pieter, additional, Hak, Eelko, additional, Berger, Rolf M F, additional, Groen, Henk, additional, and Wilffert, Bob, additional
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- 2017
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31. Knowledge and attitude regarding pharmacogenetics among formerly pregnant women in the Netherlands and their interest in pharmacogenetic research
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Daud, Aizati N. A., primary, Bergsma, Eefke L., additional, Bergman, Jorieke E. H., additional, De Walle, Hermien E. K., additional, Kerstjens-Frederikse, Wilhelmina S., additional, Bijker, Bert J., additional, Hak, Eelko, additional, and Wilffert, Bob, additional
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- 2017
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32. Maternal use of drug substrates of placental transporters and the effect of transporter-mediated drug interactions on the risk of congenital anomalies
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Daud, Aizati N. A., primary, Bergman, Jorieke E. H., additional, Oktora, Monika P., additional, Kerstjens-Frederikse, Wilhelmina S., additional, Groen, Henk, additional, Bos, Jens H., additional, Hak, Eelko, additional, and Wilffert, Bob, additional
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- 2017
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33. 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)
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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
34. CHARGE syndrome:Molecular diagnosis, clinical aspects and its overlap with Kallmann syndrome
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Kammen-Bergman, Jorieke Elisabertha Hermina van, Kammen-Bergman, Jorieke Elisabertha Hermina van, Kammen-Bergman, Jorieke Elisabertha Hermina van, and Kammen-Bergman, Jorieke Elisabertha Hermina van
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- 2011
35. The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors—Is Pharmacogenetics the Key?
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Daud, Aizati, primary, Bergman, Jorieke, additional, Kerstjens-Frederikse, Wilhelmina, additional, Groen, Henk, additional, and Wilffert, Bob, additional
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- 2016
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36. CHARGE syndrome: Molecular diagnosis, clinical aspects and its overlap with Kallmann syndrome
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Kammen-Bergman, Jorieke Elisabertha Hermina van, van Ravenswaaij-Arts, Conny, Research Institute Brain and Cognition (B&C), Faculteit Medische Wetenschappen/UMCG, and Reproductive Origins of Adult Health and Disease (ROAHD)
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Aangeboren afwijkingen ,medische genetica ,Mutaties ,Reukstoornissen ,Hypogonadisme ,Proefschriften (vorm ,Kallmann syndroom ,CHARGE syndroom - Published
- 2011
37. Congenital anomalies in offspring of subfertile couples: a registry-based study in the northern Netherlands
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Seggers, Jorien, primary, de Walle, Hermien E.K., additional, Bergman, Jorieke E.H., additional, Groen, Henk, additional, Hadders-Algra, Mijna, additional, Bos, Marly E., additional, Hoek, Annemieke, additional, and Haadsma, Maaike L., additional
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- 2015
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38. Holt Oram syndrome: a registry-based study in Europe
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Barisic, Ingeborg, primary, Boban, Ljubica, additional, Greenlees, Ruth, additional, Garne, Ester, additional, Wellesley, Diana, additional, Calzolari, Elisa, additional, Addor, Marie-Claude, additional, Arriola, Larraitz, additional, Bergman, Jorieke EH, additional, Braz, Paula, additional, Budd, Judith LS, additional, Gatt, Miriam, additional, Haeusler, Martin, additional, Khoshnood, Babak, additional, Klungsoyr, Kari, additional, McDonnell, Bob, additional, Nelen, Vera, additional, Pierini, Anna, additional, Queisser-Wahrendorf, Annette, additional, Rankin, Judith, additional, Rissmann, Anke, additional, Rounding, Catherine, additional, Tucker, David, additional, Verellen-Dumoulin, Christine, additional, and Dolk, Helen, additional
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- 2014
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39. Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe
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Barisic, Ingeborg, primary, Boban, Ljubica, additional, Loane, Maria, additional, Garne, Ester, additional, Wellesley, Diana, additional, Calzolari, Elisa, additional, Dolk, Helen, additional, Addor, Marie-Claude, additional, Bergman, Jorieke EH, additional, Braz, Paula, additional, Draper, Elizabeth S, additional, Haeusler, Martin, additional, Khoshnood, Babak, additional, Klungsoyr, Kari, additional, Pierini, Anna, additional, Queisser-Luft, Annette, additional, Rankin, Judith, additional, Rissmann, Anke, additional, and Verellen-Dumoulin, Christine, additional
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- 2014
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40. Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study
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Vasluian, Ecaterina, primary, van der Sluis, Corry K, additional, van Essen, Anthonie J, additional, Bergman, Jorieke E H, additional, Dijkstra, Pieter U, additional, Reinders-Messelink, Heleen A, additional, and de Walle, Hermien E K, additional
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- 2013
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41. A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome
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Bergman, Jorieke E H, Janssen, Nicole, van der Sloot, Almer M, de Walle, Hermien E K, Schoots, Jeroen, Rendtorff, Nanna D, Tranebjaerg, Lisbeth, Hoefsloot, Lies H, van Ravenswaaij-Arts, Conny M A, Hofstra, Robert M W, Bergman, Jorieke E H, Janssen, Nicole, van der Sloot, Almer M, de Walle, Hermien E K, Schoots, Jeroen, Rendtorff, Nanna D, Tranebjaerg, Lisbeth, Hoefsloot, Lies H, van Ravenswaaij-Arts, Conny M A, and Hofstra, Robert M W
- Abstract
CHARGE syndrome is characterized by the variable occurrence of multisensory impairment, congenital anomalies, and developmental delay, and is caused by heterozygous mutations in the CHD7 gene. Correct interpretation of CHD7 variants is essential for genetic counseling. This is particularly difficult for missense variants because most variants in the CHD7 gene are private and a functional assay is not yet available. We have therefore developed a novel classification system to predict the pathogenic effects of CHD7 missense variants that can be used in a diagnostic setting. Our classification system combines the results from two computational algorithms (PolyPhen-2 and Align-GVGD) and the prediction of a newly developed structural model of the chromo- and helicase domains of CHD7 with segregation and phenotypic data. The combination of different variables will lead to a more confident prediction of pathogenicity than was previously possible. We have used our system to classify 145 CHD7 missense variants. Our data show that pathogenic missense mutations are mainly present in the middle of the CHD7 gene, whereas benign variants are mainly clustered in the 5' and 3' regions. Finally, we show that CHD7 missense mutations are, in general, associated with a milder phenotype than truncating mutations.
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- 2012
42. Mutation update on the CHD7 gene involved in CHARGE syndrome
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Janssen, Nicole, Bergman, Jorieke E H, Swertz, Morris A, Tranebjaerg, Lisbeth, Lodahl, Marianne, Schoots, Jeroen, Hofstra, Robert M W, van Ravenswaaij-Arts, Conny M A, Hoefsloot, Lies H, Janssen, Nicole, Bergman, Jorieke E H, Swertz, Morris A, Tranebjaerg, Lisbeth, Lodahl, Marianne, Schoots, Jeroen, Hofstra, Robert M W, van Ravenswaaij-Arts, Conny M A, and Hoefsloot, Lies H
- Abstract
CHD7 is a member of the chromodomain helicase DNA-binding (CHD) protein family that plays a role in transcription regulation by chromatin remodeling. Loss-of-function mutations in CHD7 are known to cause CHARGE syndrome, an autosomal-dominant malformation syndrome in which several organ systems, for example, the central nervous system, eye, ear, nose, and mediastinal organs, are variably involved. In this article, we review all the currently described CHD7 variants, including 183 new pathogenic mutations found by our laboratories. In total, we compiled 528 different pathogenic CHD7 alterations from 508 previously published patients with CHARGE syndrome and 294 unpublished patients analyzed by our laboratories. The mutations are equally distributed along the coding region of CHD7 and most are nonsense or frameshift mutations. Most mutations are unique, but we identified 94 recurrent mutations, predominantly arginine to stop codon mutations. We built a locus-specific database listing all the variants that is easily accessible at www.CHD7.org. In addition, we summarize the latest data on CHD7 expression studies, animal models, and functional studies, and we discuss the latest clinical insights into CHARGE syndrome.
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- 2012
43. The Results ofCHD7Analysis in Clinically Well-Characterized Patients with Kallmann Syndrome
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Bergman, Jorieke E. H., primary, de Ronde, Willem, additional, Jongmans, Marjolijn C. J., additional, Wolffenbuttel, Bruce H. R., additional, Drop, Sten L. S., additional, Hermus, Ad, additional, Bocca, Gianni, additional, Hoefsloot, Lies H., additional, and van Ravenswaaij-Arts, Conny M. A., additional
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- 2012
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44. Study of smell and reproductive organs in a mouse model for CHARGE syndrome
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Bergman, Jorieke EH, primary, Bosman, Erika A, additional, van Ravenswaaij-Arts, Conny MA, additional, and Steel, Karen P, additional
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- 2009
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45. Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.
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Barisic, Ingeborg, Boban, Ljubica, Loane, Maria, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Dolk, Helen, Addor, Marie-Claude, Bergman, Jorieke EH, Braz, Paula, Draper, Elizabeth S, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, Pierini, Anna, Queisser-Luft, Annette, Rankin, Judith, Rissmann, Anke, and Verellen-Dumoulin, Christine
- Subjects
MECKEL diverticulum ,GASTROINTESTINAL system abnormalities ,AUTOSOMAL recessive polycystic kidney ,HUMAN abnormalities ,CENTRAL nervous system abnormalities - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2015
- Full Text
- View/download PDF
46. Study of smell and reproductive organs in a mouse model for CHARGE syndrome.
- Author
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Bergman, Jorieke E. H., Bosman, Erika A., van Ravenswaaij-Arts, Conny M. A., and Steel, Karen P.
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GENITALIA , *HEART abnormalities , *ANIMAL models in research , *GONADOTROPIN , *PHENOTYPES - Abstract
CHARGE syndrome is a multiple congenital anomaly syndrome characterised by Coloboma, Heart defects, Atresia of choanae, Retardation of growth and/or development, Genital hypoplasia, and Ear anomalies often associated with deafness. It is caused by heterozygous mutations in the CHD7 gene and shows a highly variable phenotype. Anosmia and hypogonadotropic hypogonadism occur in the majority of the CHARGE patients, but the underlying pathogenesis is unknown. Therefore, we studied the ability to smell and aspects of the reproductive system (reproductive performance, gonadotropin-releasing hormone (GnRH) neurons and anatomy of testes and uteri) in a mouse model for CHARGE syndrome, the whirligig mouse (Chd7Whi/+). We showed that Chromodomain Helicase DNA-binding protein 7 (Chd7) is expressed in brain areas involved in olfaction and reproduction during embryonic development. We observed poorer performance in the smell test in adult Chd7Whi/+ mice, secondary either to olfactory dysfunction or to balance disturbances. Olfactory bulb and reproductive organ abnormalities were observed in a proportion of Chd7Whi/+ mice. Hypothalamic GnRH neurons were slightly reduced in Chd7Whi/+ females and reproductive performance was slightly less in Chd7Whi/+ mice. This study shows that the penetrance of anosmia and hypogonadotropic hypogonadism is lower in Chd7Whi/+ mice than in CHARGE patients. Interestingly, many phenotypic features of the Chd7 mutation showed incomplete penetrance in our model mice, despite the use of inbred, genetically identical mice. This supports the theory that the extreme variability of the CHARGE phenotype in both humans and mice might be attributed to variations in the fetal microenvironment or to purely stochastic events. [ABSTRACT FROM AUTHOR]
- Published
- 2010
- Full Text
- View/download PDF
47. A Multicountry Analysis of Prevalence and Mortality among Neonates and Children with Bladder Exstrophy
- Author
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Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana, Zarante, Ignacio, Kancherla, Vijaya, Tandaki, Lucita, Sundar, Manasvi, Lux, Anke, Bakker, Marian K., Bergman, Jorieke EH., Bermejo-Sánchez, Eva, Canfield, Mark A., Feldkamp, Marcia L., Groisman, Boris, Hurtado-Villa, Paula, Källén, Karin, Landau, Danielle, Lelong, Nathalie, Lopez-Camelo, Jorge, Mastroiacovo, Pierpaolo, Morgan, Margery, Mutchinick, Osvaldo M., Nance, Amy E., Nembhard, Wendy N., Pierini, Anna, Šípek, Antonin, Stallings, Erin B., Szabova, Elena, Wertelecki, Wladimir, Rissmann, Anke, Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana, Zarante, Ignacio, Kancherla, Vijaya, Tandaki, Lucita, Sundar, Manasvi, Lux, Anke, Bakker, Marian K., Bergman, Jorieke EH., Bermejo-Sánchez, Eva, Canfield, Mark A., Feldkamp, Marcia L., Groisman, Boris, Hurtado-Villa, Paula, Källén, Karin, Landau, Danielle, Lelong, Nathalie, Lopez-Camelo, Jorge, Mastroiacovo, Pierpaolo, Morgan, Margery, Mutchinick, Osvaldo M., Nance, Amy E., Nembhard, Wendy N., Pierini, Anna, Šípek, Antonin, Stallings, Erin B., Szabova, Elena, Wertelecki, Wladimir, and Rissmann, Anke
48. Are congenital urinary tract and genital organ anomalies related to folic acid?
- Author
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Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Cirugía y Especialidades. Grupo de Investigación de Cirugía y Especialidades, Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Cirugía y Especialidades. Urología, Blom, Fenneke, Bergman, Jorieke E.H., de Walle, Hermien E.K., Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Cirugía y Especialidades. Grupo de Investigación de Cirugía y Especialidades, Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Cirugía y Especialidades. Urología, Blom, Fenneke, Bergman, Jorieke E.H., and de Walle, Hermien E.K.
49. A multi-country study of prevalence and early childhood mortality among children with omphalocele
- Author
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Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana, Zarante, Ignacio, Nembhard, Wendy N., Bergman, Jorieke E. H., Politis, Maria D., Arteaga-Vázquez, Jazmín, Bermejo-Sánchez, Eva, Canfield, Mark A., Cragan, Janet D., Dastgiri, Saeed, de Walle, Hermien E. K., Feldkamp, Marcia L., Nance, Amy, Gatt, Miriam, Groisman, Boris, Hurtado-Villa, Paula, Kallén, Kärin, Landau, Danielle, Lelong, Nathalie, Lopez-Camelo, Jorge, Martinez, Laura, Morgan, Margery, Pierini, Anna, Rissmann, Anke, Šípek, Antonin, Szabova, Elena, Tagliabue, Giovanna, Wertelecki, Wladimir, Bakker, Marian K., Kancherla, Vijaya, Mastroiacovo, Pierpaolo, Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana, Zarante, Ignacio, Nembhard, Wendy N., Bergman, Jorieke E. H., Politis, Maria D., Arteaga-Vázquez, Jazmín, Bermejo-Sánchez, Eva, Canfield, Mark A., Cragan, Janet D., Dastgiri, Saeed, de Walle, Hermien E. K., Feldkamp, Marcia L., Nance, Amy, Gatt, Miriam, Groisman, Boris, Hurtado-Villa, Paula, Kallén, Kärin, Landau, Danielle, Lelong, Nathalie, Lopez-Camelo, Jorge, Martinez, Laura, Morgan, Margery, Pierini, Anna, Rissmann, Anke, Šípek, Antonin, Szabova, Elena, Tagliabue, Giovanna, Wertelecki, Wladimir, Bakker, Marian K., Kancherla, Vijaya, and Mastroiacovo, Pierpaolo
50. Maternal occupational exposure and congenital anomalies
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Nynke Spinder, Boezen, Hendrika, Kromhout, Hans, de Walle, Hermien, and van Kammen-Bergman, Jorieke
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Organic dust ,Maternal Exposures ,Pregnancy ,business.industry ,Offspring ,Environmental health ,Workforce ,Etiology ,Medicine ,Occupational physicians ,Occupational exposure ,business ,medicine.disease - Abstract
One in 33 infants worldwide is born with a congenital anomaly. Embryonic development is a complex process involving genetic, epigenetic, and environmental factors. Disturbances in embryonic development can lead to congenital anomalies. However, the aetiology of many congenital anomalies is not yet fully understood. In the Netherlands, an increasing number of women are working during their reproductive years and their pregnancies, which increases the chances of potential teratogenic effects due to exposures in the workplace. The aim of this thesis was to examine the association between maternal occupational exposures during the periconceptional period and congenital anomalies in the offspring. This thesis shows that maternal occupational exposure to organic dust and solvents early in pregnancy is relatively common and increases the risk of orofacial clefts, neural tube defects, urinary defects, and congenital heart defects. Maternal exposures to mineral dust, pesticides, and metals are less prevalent, but increases the risk of orofacial clefts and congenital heart defects. Therefore, employers should perform careful risk inventories and evaluations at their workplace, if necessary with input from an occupational hygienist. The female workforce should be informed about their occupational exposures and educated about the recommended policies to limit teratogenic exposure as much as possible in order to reduce the risk of congenital anomalies in offspring. Employees and employers should not hesitate to consult and discuss uncertainties with occupational hygienists and/or occupational physicians.
- Published
- 2020
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