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Maternal risk factors for the VACTERL association: A EUROCAT case–control study
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 e...
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| Published in: | Birth defects research 2020-05, Vol.112 (9), p.688-698 |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| container_title | Birth defects research |
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| creator | 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 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 Walle, Hermien E.K. Bergman, Jorieke E.H. Roeleveld, Nel |
| description | 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. |
| doi_str_mv | 10.1002/bdr2.1686 |
| format | article |
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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.</description><identifier>ISSN: 2472-1727</identifier><identifier>EISSN: 2472-1727</identifier><identifier>DOI: 10.1002/bdr2.1686</identifier><identifier>PMID: 32319733</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>assisted reproductive techniques ; Autopsy ; Birth defects ; Chromosome aberrations ; Confidence intervals ; Congenital anomalies ; Congenital defects ; Control methods ; Diabetes mellitus ; Etiology ; Health risk assessment ; Life Sciences ; Lung diseases ; maternal factors ; Obstructive lung disease ; Offspring ; Population studies ; pregestational diabetes ; Regression analysis ; Reproduction ; respiratory disorders ; Risk analysis ; Risk factors ; Statistical analysis ; Vertebrae</subject><ispartof>Birth defects research, 2020-05, Vol.112 (9), p.688-698</ispartof><rights>2020 The Authors. by Wiley Periodicals, Inc.</rights><rights>2020 The Authors. Birth Defects Research published by Wiley Periodicals, Inc.</rights><rights>2020. This article is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4426-469807589ab04d75a4ae89a31e9c3e0d0c99fc56ee6636df584f91c32661fd063</citedby><cites>FETCH-LOGICAL-c4426-469807589ab04d75a4ae89a31e9c3e0d0c99fc56ee6636df584f91c32661fd063</cites><orcidid>0000-0002-9437-2790 ; 0000-0001-7748-3512 ; 0000-0002-3929-3619 ; 0000-0002-3845-6180</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fbdr2.1686$$EPDF$$P50$$Gwiley$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fbdr2.1686$$EHTML$$P50$$Gwiley$$Hfree_for_read</linktohtml><link.rule.ids>230,315,786,790,891,27957,27958,50923,51032</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32319733$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://univ-rennes.hal.science/hal-02565807$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Putte, Romy</creatorcontrib><creatorcontrib>Rooij, Iris A.L.M.</creatorcontrib><creatorcontrib>Haanappel, Cynthia P.</creatorcontrib><creatorcontrib>Marcelis, Carlo L.M.</creatorcontrib><creatorcontrib>Brunner, Han G.</creatorcontrib><creatorcontrib>Addor, Marie‐Claude</creatorcontrib><creatorcontrib>Cavero‐Carbonell, Clara</creatorcontrib><creatorcontrib>Dias, Carlos M.</creatorcontrib><creatorcontrib>Draper, Elizabeth S.</creatorcontrib><creatorcontrib>Etxebarriarteun, Larraitz</creatorcontrib><creatorcontrib>Gatt, Miriam</creatorcontrib><creatorcontrib>Khoshnood, Babak</creatorcontrib><creatorcontrib>Kinsner‐Ovaskainen, Agnieszka</creatorcontrib><creatorcontrib>Klungsoyr, Kari</creatorcontrib><creatorcontrib>Kurinczuk, Jenny J.</creatorcontrib><creatorcontrib>Latos‐Bielenska, Anna</creatorcontrib><creatorcontrib>Luyt, Karen</creatorcontrib><creatorcontrib>O'Mahony, Mary T.</creatorcontrib><creatorcontrib>Miller, Nicola</creatorcontrib><creatorcontrib>Mullaney, Carmel</creatorcontrib><creatorcontrib>Nelen, Vera</creatorcontrib><creatorcontrib>Neville, Amanda J.</creatorcontrib><creatorcontrib>Perthus, Isabelle</creatorcontrib><creatorcontrib>Pierini, Anna</creatorcontrib><creatorcontrib>Randrianaivo, Hanitra</creatorcontrib><creatorcontrib>Rankin, Judith</creatorcontrib><creatorcontrib>Rissmann, Anke</creatorcontrib><creatorcontrib>Rouget, Florence</creatorcontrib><creatorcontrib>Schaub, Bruno</creatorcontrib><creatorcontrib>Tucker, David</creatorcontrib><creatorcontrib>Wellesley, Diana</creatorcontrib><creatorcontrib>Wiesel, Awi</creatorcontrib><creatorcontrib>Zymak‐Zakutnia, Natalya</creatorcontrib><creatorcontrib>Loane, Maria</creatorcontrib><creatorcontrib>Barisic, Ingeborg</creatorcontrib><creatorcontrib>Walle, Hermien E.K.</creatorcontrib><creatorcontrib>Bergman, Jorieke E.H.</creatorcontrib><creatorcontrib>Roeleveld, Nel</creatorcontrib><title>Maternal risk factors for the VACTERL association: A EUROCAT case–control study</title><title>Birth defects research</title><addtitle>Birth Defects Res</addtitle><description>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.</description><subject>assisted reproductive techniques</subject><subject>Autopsy</subject><subject>Birth defects</subject><subject>Chromosome aberrations</subject><subject>Confidence intervals</subject><subject>Congenital anomalies</subject><subject>Congenital defects</subject><subject>Control methods</subject><subject>Diabetes mellitus</subject><subject>Etiology</subject><subject>Health risk assessment</subject><subject>Life Sciences</subject><subject>Lung diseases</subject><subject>maternal factors</subject><subject>Obstructive lung disease</subject><subject>Offspring</subject><subject>Population studies</subject><subject>pregestational diabetes</subject><subject>Regression analysis</subject><subject>Reproduction</subject><subject>respiratory disorders</subject><subject>Risk analysis</subject><subject>Risk factors</subject><subject>Statistical analysis</subject><subject>Vertebrae</subject><issn>2472-1727</issn><issn>2472-1727</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>WIN</sourceid><recordid>eNp1kc1O4zAUhS0EGhCwmBdAltjAouB_JyyQQunASB0hqsLWch2HBtK42AmoO96BN5wnwZnyN0isbF9_PvdcHwB-YnSAESKHk9yTAywSsQI2CJOkhyWRq5_262A7hFuEEE4IljT5AdYpoTiVlG6Ayz-6sb7WFfRluIOFNo3zARbOw2Zq4XXWHw9GQ6hDcKbUTenqI5jBwdXoop-NodHB_n16Nq5uvKtgaNp8sQXWCl0Fu_26boKrX4Nx_7w3vDj73c-GPcMYET0m0gRJnqR6glguuWbaxgPFNjXUohyZNC0MF9YKQUVe8IQVKTaUCIGLHAm6CY6XuvN2MrO5sdGDrtTclzPtF8rpUv1_U5dTdeMelIyzM0KjwP5SYPrl2Xk2VF0NES54NPmAI7v32sy7-9aGRs3KYGxV6dq6NihCU8olQ1JGdPcLeuva7ocjxWJgjHOWfDQ33oXgbfHuACPV5aq6XFWXa2R3Pk_6Tr6lGIHDJfBYVnbxvZI6OR2Rf5Iv5Kyqdg</recordid><startdate>20200515</startdate><enddate>20200515</enddate><creator>Putte, Romy</creator><creator>Rooij, Iris A.L.M.</creator><creator>Haanappel, Cynthia P.</creator><creator>Marcelis, Carlo 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Mary T.</au><au>Miller, Nicola</au><au>Mullaney, Carmel</au><au>Nelen, Vera</au><au>Neville, Amanda J.</au><au>Perthus, Isabelle</au><au>Pierini, Anna</au><au>Randrianaivo, Hanitra</au><au>Rankin, Judith</au><au>Rissmann, Anke</au><au>Rouget, Florence</au><au>Schaub, Bruno</au><au>Tucker, David</au><au>Wellesley, Diana</au><au>Wiesel, Awi</au><au>Zymak‐Zakutnia, Natalya</au><au>Loane, Maria</au><au>Barisic, Ingeborg</au><au>Walle, Hermien E.K.</au><au>Bergman, Jorieke E.H.</au><au>Roeleveld, Nel</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Maternal risk factors for the VACTERL association: A EUROCAT case–control study</atitle><jtitle>Birth defects research</jtitle><addtitle>Birth Defects Res</addtitle><date>2020-05-15</date><risdate>2020</risdate><volume>112</volume><issue>9</issue><spage>688</spage><epage>698</epage><pages>688-698</pages><issn>2472-1727</issn><eissn>2472-1727</eissn><notes>Funding information</notes><notes>Radboud university medical center</notes><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><notes>PMCID: PMC7319423</notes><notes>Funding information Radboud university medical center</notes><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><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>32319733</pmid><doi>10.1002/bdr2.1686</doi><tpages>11</tpages><orcidid>https://orcid.org/0000-0002-9437-2790</orcidid><orcidid>https://orcid.org/0000-0001-7748-3512</orcidid><orcidid>https://orcid.org/0000-0002-3929-3619</orcidid><orcidid>https://orcid.org/0000-0002-3845-6180</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 2472-1727 |
| ispartof | Birth defects research, 2020-05, Vol.112 (9), p.688-698 |
| issn | 2472-1727 2472-1727 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7319423 |
| source | Wiley-Blackwell Journals |
| subjects | assisted reproductive techniques Autopsy Birth defects Chromosome aberrations Confidence intervals Congenital anomalies Congenital defects Control methods Diabetes mellitus Etiology Health risk assessment Life Sciences Lung diseases maternal factors Obstructive lung disease Offspring Population studies pregestational diabetes Regression analysis Reproduction respiratory disorders Risk analysis Risk factors Statistical analysis Vertebrae |
| title | Maternal risk factors for the VACTERL association: A EUROCAT case–control study |
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