ArticleBirth defects research2020
Maternal risk factors for the VACTERL association: A EUROCAT case-control study.
Article in Birth defects research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Loss ofGenes & diseases · 2026Article
- In Vitro Fertilization and VACTERL Birth Defects.JAMA network open · 2026Article
- A Population-Based Assessment of Cancer Risk in Children With VACTERL.American journal of medical genetics. Part A · 2026Article
- Loss of wbp11 causes multi-system developmental defects: a zebrafish model of VACTERL association.Frontiers in cell and developmental biology · 2026Article
- Practical approach to extracardiac findings in CT and MR for the non-radiologist.Pediatric radiology · 2025Review
- Identification of potential causative gene of anorectal malformation : Short title: causative gene of anorectal malformation.Scientific reports · 2025Article
- Molecular mechanism, diagnosis, and treatment of VACTERL association.Frontiers in pediatrics · 2025Review
- Efficient inference of parent-of-origin effect using case-control mother-child genotype data.Journal of statistical planning and inference · 2024Article
- Article
- High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.European journal of human genetics : EJHG · 2023Article
- Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.American journal of medical genetics. Part A · 2022Article
- Article
- NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.American journal of medical genetics. Part A · 2022Article
- The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.Clinical genetics · 2022Article
- Maternal risk associated with the VACTERL association: A case-control study.Birth defects research · 2020Article
- Maternal risk factors for the VACTERL association: A EUROCAT case-control study.Birth defects research · 2020Article
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Authors and funding
38 authors.
Funding
Abstract
backgroundThe 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.
objectiveTo identify maternal risk factors for VACTERL in offspring in a large European study.
methodsA 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).
resultsThe 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]).
conclusionWe identified several maternal risk factors for VACTERL in offspring befitting a multifactorial etiology.
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