Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study

E Calzolari, I Barisic, Maria Loane, J Morris, D Wellesley, Helen Dolk, M-C Addor, L Arriola, F Bianchi, A Neville, J Budd, K Klungsoyr, B Khoshnood, R McDonnell, V Nelen, A Queisser-Luft, J Rankin, A Rissmann, C Rounding, D Tucker & 3 others C Verellen-Dumoulin, H de Walle, E Garne

Research output: Contribution to journalArticle

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Abstract

Background This study describes the prevalence, associated anomalies, and demographic characteristics of cases of multiple congenital anomalies (MCA) in 19 population‐based European registries (EUROCAT) covering 959,446 births in 2004 and 2010.
Methods EUROCAT implemented a computer algorithm for classification of congenital anomaly cases followed by manual review of potential MCA cases by geneticists. MCA cases are defined as cases with two or more major anomalies of different organ systems, excluding sequences, chromosomal and monogenic syndromes.
Results The combination of an epidemiological and clinical approach for classification of cases has improved the quality and accuracy of the MCA data. Total prevalence of MCA cases was 15.8 per 10,000 births. Fetal deaths and termination of pregnancy were significantly more frequent in MCA cases compared with isolated cases (p < 0.001) and MCA cases were more frequently prenatally diagnosed (p < 0.001). Live born infants with MCA were more often born preterm (p < 0.01) and with birth weight < 2500 grams (p < 0.01). Respiratory and ear, face, and neck anomalies were the most likely to occur with other anomalies (34% and 32%) and congenital heart defects and limb anomalies were the least likely to occur with other anomalies (13%) (p < 0.01). However, due to their high prevalence, congenital heart defects were present in half of all MCA cases. Among males with MCA, the frequency of genital anomalies was significantly greater than the frequency of genital anomalies among females with MCA (p < 0.001).
Conclusion Although rare, MCA cases are an important public health issue, because of their severity. The EUROCAT database of MCA cases will allow future investigation on the epidemiology of these conditions and related clinical and diagnostic problems. Birth Defects Research (Part A) 100:270–276, 2014. © 2014 Wiley Periodicals, Inc.
LanguageEnglish
Pages270-276
JournalBirth Defects Research (Part A)
Volume100
Early online date11 Apr 2014
DOIs
Publication statusE-pub ahead of print - 11 Apr 2014

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Congenital Heart Defects
Registries
Epidemiology
Parturition
Fetal Death
Birth Weight
Population
Ear
Neck
Extremities
Public Health
Cross-Sectional Studies
Demography
Databases
Pregnancy
Research

Keywords

  • epidemiology
  • multiple congenital anomalies
  • classification
  • prevalence
  • prenatal diagnosis

Cite this

Calzolari, E ; Barisic, I ; Loane, Maria ; Morris, J ; Wellesley, D ; Dolk, Helen ; Addor, M-C ; Arriola, L ; Bianchi, F ; Neville, A ; Budd, J ; Klungsoyr, K ; Khoshnood, B ; McDonnell, R ; Nelen, V ; Queisser-Luft, A ; Rankin, J ; Rissmann, A ; Rounding, C ; Tucker, D ; Verellen-Dumoulin, C ; de Walle, H ; Garne, E. / Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study. In: Birth Defects Research (Part A). 2014 ; Vol. 100. pp. 270-276.
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title = "Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study",
abstract = "Background This study describes the prevalence, associated anomalies, and demographic characteristics of cases of multiple congenital anomalies (MCA) in 19 population‐based European registries (EUROCAT) covering 959,446 births in 2004 and 2010.Methods EUROCAT implemented a computer algorithm for classification of congenital anomaly cases followed by manual review of potential MCA cases by geneticists. MCA cases are defined as cases with two or more major anomalies of different organ systems, excluding sequences, chromosomal and monogenic syndromes.Results The combination of an epidemiological and clinical approach for classification of cases has improved the quality and accuracy of the MCA data. Total prevalence of MCA cases was 15.8 per 10,000 births. Fetal deaths and termination of pregnancy were significantly more frequent in MCA cases compared with isolated cases (p < 0.001) and MCA cases were more frequently prenatally diagnosed (p < 0.001). Live born infants with MCA were more often born preterm (p < 0.01) and with birth weight < 2500 grams (p < 0.01). Respiratory and ear, face, and neck anomalies were the most likely to occur with other anomalies (34{\%} and 32{\%}) and congenital heart defects and limb anomalies were the least likely to occur with other anomalies (13{\%}) (p < 0.01). However, due to their high prevalence, congenital heart defects were present in half of all MCA cases. Among males with MCA, the frequency of genital anomalies was significantly greater than the frequency of genital anomalies among females with MCA (p < 0.001).Conclusion Although rare, MCA cases are an important public health issue, because of their severity. The EUROCAT database of MCA cases will allow future investigation on the epidemiology of these conditions and related clinical and diagnostic problems. Birth Defects Research (Part A) 100:270–276, 2014. {\circledC} 2014 Wiley Periodicals, Inc.",
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author = "E Calzolari and I Barisic and Maria Loane and J Morris and D Wellesley and Helen Dolk and M-C Addor and L Arriola and F Bianchi and A Neville and J Budd and K Klungsoyr and B Khoshnood and R McDonnell and V Nelen and A Queisser-Luft and J Rankin and A Rissmann and C Rounding and D Tucker and C Verellen-Dumoulin and {de Walle}, H and E Garne",
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Calzolari, E, Barisic, I, Loane, M, Morris, J, Wellesley, D, Dolk, H, Addor, M-C, Arriola, L, Bianchi, F, Neville, A, Budd, J, Klungsoyr, K, Khoshnood, B, McDonnell, R, Nelen, V, Queisser-Luft, A, Rankin, J, Rissmann, A, Rounding, C, Tucker, D, Verellen-Dumoulin, C, de Walle, H & Garne, E 2014, 'Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study', Birth Defects Research (Part A), vol. 100, pp. 270-276. https://doi.org/10.1002/bdra.23240

Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study. / Calzolari, E; Barisic, I; Loane, Maria; Morris, J; Wellesley, D; Dolk, Helen; Addor, M-C; Arriola, L; Bianchi, F; Neville, A; Budd, J; Klungsoyr, K; Khoshnood, B; McDonnell, R; Nelen, V; Queisser-Luft, A; Rankin, J; Rissmann, A; Rounding, C; Tucker, D; Verellen-Dumoulin, C; de Walle, H; Garne, E.

In: Birth Defects Research (Part A), Vol. 100, 11.04.2014, p. 270-276.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study

AU - Calzolari, E

AU - Barisic, I

AU - Loane, Maria

AU - Morris, J

AU - Wellesley, D

AU - Dolk, Helen

AU - Addor, M-C

AU - Arriola, L

AU - Bianchi, F

AU - Neville, A

AU - Budd, J

AU - Klungsoyr, K

AU - Khoshnood, B

AU - McDonnell, R

AU - Nelen, V

AU - Queisser-Luft, A

AU - Rankin, J

AU - Rissmann, A

AU - Rounding, C

AU - Tucker, D

AU - Verellen-Dumoulin, C

AU - de Walle, H

AU - Garne, E

PY - 2014/4/11

Y1 - 2014/4/11

N2 - Background This study describes the prevalence, associated anomalies, and demographic characteristics of cases of multiple congenital anomalies (MCA) in 19 population‐based European registries (EUROCAT) covering 959,446 births in 2004 and 2010.Methods EUROCAT implemented a computer algorithm for classification of congenital anomaly cases followed by manual review of potential MCA cases by geneticists. MCA cases are defined as cases with two or more major anomalies of different organ systems, excluding sequences, chromosomal and monogenic syndromes.Results The combination of an epidemiological and clinical approach for classification of cases has improved the quality and accuracy of the MCA data. Total prevalence of MCA cases was 15.8 per 10,000 births. Fetal deaths and termination of pregnancy were significantly more frequent in MCA cases compared with isolated cases (p < 0.001) and MCA cases were more frequently prenatally diagnosed (p < 0.001). Live born infants with MCA were more often born preterm (p < 0.01) and with birth weight < 2500 grams (p < 0.01). Respiratory and ear, face, and neck anomalies were the most likely to occur with other anomalies (34% and 32%) and congenital heart defects and limb anomalies were the least likely to occur with other anomalies (13%) (p < 0.01). However, due to their high prevalence, congenital heart defects were present in half of all MCA cases. Among males with MCA, the frequency of genital anomalies was significantly greater than the frequency of genital anomalies among females with MCA (p < 0.001).Conclusion Although rare, MCA cases are an important public health issue, because of their severity. The EUROCAT database of MCA cases will allow future investigation on the epidemiology of these conditions and related clinical and diagnostic problems. Birth Defects Research (Part A) 100:270–276, 2014. © 2014 Wiley Periodicals, Inc.

AB - Background This study describes the prevalence, associated anomalies, and demographic characteristics of cases of multiple congenital anomalies (MCA) in 19 population‐based European registries (EUROCAT) covering 959,446 births in 2004 and 2010.Methods EUROCAT implemented a computer algorithm for classification of congenital anomaly cases followed by manual review of potential MCA cases by geneticists. MCA cases are defined as cases with two or more major anomalies of different organ systems, excluding sequences, chromosomal and monogenic syndromes.Results The combination of an epidemiological and clinical approach for classification of cases has improved the quality and accuracy of the MCA data. Total prevalence of MCA cases was 15.8 per 10,000 births. Fetal deaths and termination of pregnancy were significantly more frequent in MCA cases compared with isolated cases (p < 0.001) and MCA cases were more frequently prenatally diagnosed (p < 0.001). Live born infants with MCA were more often born preterm (p < 0.01) and with birth weight < 2500 grams (p < 0.01). Respiratory and ear, face, and neck anomalies were the most likely to occur with other anomalies (34% and 32%) and congenital heart defects and limb anomalies were the least likely to occur with other anomalies (13%) (p < 0.01). However, due to their high prevalence, congenital heart defects were present in half of all MCA cases. Among males with MCA, the frequency of genital anomalies was significantly greater than the frequency of genital anomalies among females with MCA (p < 0.001).Conclusion Although rare, MCA cases are an important public health issue, because of their severity. The EUROCAT database of MCA cases will allow future investigation on the epidemiology of these conditions and related clinical and diagnostic problems. Birth Defects Research (Part A) 100:270–276, 2014. © 2014 Wiley Periodicals, Inc.

KW - epidemiology

KW - multiple congenital anomalies

KW - classification

KW - prevalence

KW - prenatal diagnosis

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DO - 10.1002/bdra.23240

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T2 - Birth Defects Research Part A: Clinical and Molecular Teratology

JF - Birth Defects Research Part A: Clinical and Molecular Teratology

SN - 1542-0752

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