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

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

doi:10.1002/bdr2.1686

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

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

Research output: Contribution to journal › Article (Academic Journal) › peer-review

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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.

Original language	English
Pages (from-to)	688 - 698
Number of pages	11
Journal	Birth Defects Research
Volume	112
Issue number	9
DOIs	https://doi.org/10.1002/bdr2.1686
Publication status	Published - 22 Apr 2020

Keywords

etiology
assisted reproductive techniques
maternal factors
pregestational diabetes
respiratory disorders

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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Professor Karen Luyt
- Karen.Luytbristol.acuk
- Bristol Medical School (THS) - Professor in Neonatal Medicine
- Bristol Poverty Institute
- Bristol Population Health Science Institute
- Bristol Neuroscience
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Luyt, K., van de Putte, R., Marcelis, C. L. M., Addor, M. C., Cavero-Carbonell, C., Dias, C. M., Draper, E. S., Etxebarriarteun, L., Gatt, M., Khoshnood, B., Kinsner-Ovaskainen, A., Klungsøyr, K., Kurinczuk, J. J., Latos-Bielenska, A., O'Mahony, M. T., Miller, N., Mullaney, C., Nelen, V., Neville, A. J., ... Haanappel, C. (2020). Maternal risk factors for the VACTERL association: a EUROCAT case-control study. Birth Defects Research, 112(9), 688 - 698. https://doi.org/10.1002/bdr2.1686

@article{faf3746dc9a04a44a784c6dd742bb25a,

title = "Maternal risk factors for the VACTERL association: a EUROCAT case-control study",

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.",

keywords = "etiology, assisted reproductive techniques, maternal factors, pregestational diabetes, respiratory disorders",

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

year = "2020",

month = apr,

day = "22",

doi = "10.1002/bdr2.1686",

language = "English",

volume = "112",

pages = "688 -- 698",

journal = "Birth Defects Research",

issn = "2472-1727",

publisher = "Wiley",

number = "9",

}

Luyt, K, van de Putte, R, Marcelis, CLM, Addor, MC, Cavero-Carbonell, C, Dias, CM, Draper, ES, Etxebarriarteun, L, Gatt, M, Khoshnood, B, Kinsner-Ovaskainen, A, Klungsøyr, K, Kurinczuk, JJ, Latos-Bielenska, A, O'Mahony, MT, Miller, N, Mullaney, C, Nelen, V, Neville, AJ, Perthus, I, Pierini, A, Randrianaivo, H, Rankin, J, Rissmann, A, Rouget, F, Schaub, B, van Rooij, IALM, Tucker, D, Wellesley, D, Wiesel, A, Zymak-Zakutnia, N, Loane, M, Barisic, I, de Walle, HEK, Bergman, J, Roeleveld, N, Brunner, HG & Haanappel, C 2020, 'Maternal risk factors for the VACTERL association: a EUROCAT case-control study', Birth Defects Research, vol. 112, no. 9, pp. 688 - 698. https://doi.org/10.1002/bdr2.1686

TY - JOUR

T1 - Maternal risk factors for the VACTERL association

T2 - a EUROCAT case-control study

AU - Luyt, Karen

AU - van de Putte, Romy

AU - Marcelis, Carlo L M

AU - Addor, Marie Claude

AU - Cavero-Carbonell, Clara

AU - Dias, Carlos M

AU - Draper, Elizabeth S

AU - Etxebarriarteun, Larraitz

AU - Gatt, Miriam

AU - Khoshnood, Babak

AU - Kinsner-Ovaskainen, Agnieszka

AU - Klungsøyr, Kari

AU - Kurinczuk, Jenny J

AU - Latos-Bielenska, Anna

AU - O'Mahony, Mary T.

AU - Miller, Nicola

AU - Mullaney, Carmel

AU - Nelen, Vera

AU - Neville, Amanda J.

AU - Perthus, Isabelle

AU - Pierini, Anna

AU - Randrianaivo, Hanitra

AU - Rankin, Judith

AU - Rissmann, Anke

AU - Rouget, Florence

AU - Schaub, Bruno

AU - van Rooij, Iris A L M

AU - Tucker, David

AU - Wellesley, Diana

AU - Wiesel, Awi

AU - Zymak-Zakutnia, Natalya

AU - Loane, Maria

AU - Barisic, Ingeborg

AU - de Walle, Hermien E K

AU - Bergman, Jorieke

AU - Roeleveld, Nel

AU - Brunner, Han G

AU - Haanappel, Cynthia

PY - 2020/4/22

Y1 - 2020/4/22

N2 - 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.

AB - 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.

KW - etiology

KW - assisted reproductive techniques

KW - maternal factors

KW - pregestational diabetes

KW - respiratory disorders

U2 - 10.1002/bdr2.1686

DO - 10.1002/bdr2.1686

M3 - Article (Academic Journal)

C2 - 32319733

SN - 2472-1727

VL - 112

SP - 688

EP - 698

JO - Birth Defects Research

JF - Birth Defects Research

IS - 9

ER -

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

Abstract

Keywords

UN SDGs

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