Maternal risk factors for the VACTERL association: A EUROCAT case-control study

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

*Bijbehorende auteur voor dit werk

OnderzoeksoutputAcademicpeer review

2 Citaten (Scopus)
49 Downloads (Pure)

Samenvatting

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.

Originele taal-2English
Pagina's (van-tot)688-698
Aantal pagina's11
TijdschriftBirth defects research
Volume112
Nummer van het tijdschrift9
Vroegere onlinedatum22-apr-2020
DOI's
StatusPublished - 15-mei-2020

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