Amniotic band syndrome and limb body wall complex in Europe 1980-2019

Jorieke E H Bergman¹, Ingeborg Barišić², Marie-Claude Addor³, Paula Braz⁴, Clara Cavero-Carbonell⁵, Elizabeth S Draper⁶, Luis J Echevarría-González-de-Garibay⁷, Miriam Gatt⁸, Martin Haeusler⁹, Babak Khoshnood¹⁰, Kari Klungsøyr^{11

12}, Jennifer J Kurinczuk¹³, Anna Latos-Bielenska¹⁴, Karen Luyt¹⁵, Danielle Martin¹⁶, Carmel Mullaney¹⁷, Vera Nelen¹⁸, Amanda J Neville¹⁹, Mary T O'Mahony²⁰, Isabelle Perthus²¹, Anna Pierini²², Hanitra Randrianaivo²³, Judith Rankin^{15

24}, Anke Rissmann²⁵, Florence Rouget²⁶, Gerardine Sayers²⁷, Bruno Schaub²⁸, Sarah Stevens¹⁶, David Tucker²⁹, Christine Verellen-Dumoulin³⁰, Awi Wiesel³¹, Erica H Gerkes¹, Annie Perraud³², Maria A Loane³³, Diana Wellesley³⁴, Hermien E K de Walle¹

Affiliations

¹ Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
² Children's Hospital Zagreb, Centre of Excellence for Reproductive and Regenerative Medicine, Medical School University of Zagreb, Zagreb, Croatia.
³ Department of Woman-Mother-Child, University Medical Center CHUV, Lausanne, Switzerland.
⁴ RENAC-Registo Nacional de Anomalias Congénitas, Epidemiology Department, National Institute of Health Doutor Ricardo Jorge, Lisbon, Portugal.
⁵ Rare Diseases Research Unit, Foundation for the Promotion of the Research in Healthcare and Biomedicine, Valencia, Spain.
⁶ Department of Health Sciences, University of Leicester, Leicester, UK.
⁷ Directorate for Healthcare Planning, Organisation and Evaluation, Ministry of Health of the Basque Government, Vitoria Gasteiz, Spain.
⁸ Malta Congenital Anomalies Registry, Directorate for Health Information and Research, G'mangia, Malta.
⁹ Department of Obstetrics and Gynaecology, Medical University of Graz, Graz, Austria.
¹⁰ Université de Paris Cité, Obstetrical Perinatal and Paediatric Epidemiology Research Team (EPOPé), CRESS, INSERM, INRA, Paris, France.
¹¹ Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.
¹² Department of Health Promotion, Norwegian Institute of Public Health, Bergen, Norway.
¹³ National Perinatal Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
¹⁴ Polish Registry of Congenital Malformations, Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
¹⁵ South West Congenital Anomaly Register (SWCAR), Bristol Medical School, University of Bristol, Bristol, UK.
¹⁶ NCARDRS, NHS Digital, Leeds, UK.
¹⁷ Department of Public Health, HSE South East Area, Dublin, Ireland.
¹⁸ Provincial Institute of Hygiene, Antwerp, Belgium.
¹⁹ IMER Registry, Centre for Clinical and Epidemiological Research, University of Ferrara and Azienda Ospedaliero Universitario di Ferrara, Ferrara, Italy.
²⁰ Department of Public Health HSE-South, St Finbarr's Hospital, Cork, Ireland.
²¹ Auvergne Registry of Congenital Anomalies (CEMC-Auvergne), Department of Clinical Genetics, Centre de Référence des Maladies Rares, University Hospital of Clermont-Ferrand, Clermont-Ferrand, France.
²² Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy.
²³ Unit of Genetic Medical and Register of Congenital Malformations, CHU St Pierre La Reunion, Réunion, France.
²⁴ Population Health Sciences Institute, Newcastle University, Newcastle upon Tyne, UK.
²⁵ Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University Magdeburg, Magdeburg, Germany.
²⁶ Brittany Registry of Congenital Anomalies, CHU Rennes, Univ Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail), UMR_S 1085, Rennes, France.
²⁷ National Health Intelligence Unit, R&D Health Service Executive, Dublin, Ireland.
²⁸ French West Indies Registry, Registre des Malformations des Antilles (REMALAN), Maison de la Femme de la Mère et de l'Enfant, University Hospital of Martinique, Fort-de-France, France.
²⁹ Congenital Anomaly Register & Information Service for Wales (CARIS), Public Health Wales, Swansea, UK.
³⁰ Eurocat Hainaut-Namur, Institut de Pathologie et de Génétique, Charleroi, Belgium.
³¹ Births Registry Mainz Model, University of Mainz Medical Center, Mainz, Germany.
³² European Commission, Joint Research Centre (JRC), Ispra, Italy.
³³ Faculty of Life & Health Sciences, Ulster University, Northern Ireland, UK.
³⁴ Faculty of Medicine and Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton, Southampton, UK.

PMID: 36584346
DOI: 10.1002/ajmg.a.63107

Amniotic band syndrome and limb body wall complex in Europe 1980-2019

Jorieke E H Bergman et al. Am J Med Genet A. 2023 Apr.

. 2023 Apr;191(4):995-1006.

doi: 10.1002/ajmg.a.63107. Epub 2022 Dec 30.

Authors

Affiliations

¹ Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
² Children's Hospital Zagreb, Centre of Excellence for Reproductive and Regenerative Medicine, Medical School University of Zagreb, Zagreb, Croatia.
³ Department of Woman-Mother-Child, University Medical Center CHUV, Lausanne, Switzerland.
⁴ RENAC-Registo Nacional de Anomalias Congénitas, Epidemiology Department, National Institute of Health Doutor Ricardo Jorge, Lisbon, Portugal.
⁵ Rare Diseases Research Unit, Foundation for the Promotion of the Research in Healthcare and Biomedicine, Valencia, Spain.
⁶ Department of Health Sciences, University of Leicester, Leicester, UK.
⁷ Directorate for Healthcare Planning, Organisation and Evaluation, Ministry of Health of the Basque Government, Vitoria Gasteiz, Spain.
⁸ Malta Congenital Anomalies Registry, Directorate for Health Information and Research, G'mangia, Malta.
⁹ Department of Obstetrics and Gynaecology, Medical University of Graz, Graz, Austria.
¹⁰ Université de Paris Cité, Obstetrical Perinatal and Paediatric Epidemiology Research Team (EPOPé), CRESS, INSERM, INRA, Paris, France.
¹¹ Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.
¹² Department of Health Promotion, Norwegian Institute of Public Health, Bergen, Norway.
¹³ National Perinatal Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
¹⁴ Polish Registry of Congenital Malformations, Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
¹⁵ South West Congenital Anomaly Register (SWCAR), Bristol Medical School, University of Bristol, Bristol, UK.
¹⁶ NCARDRS, NHS Digital, Leeds, UK.
¹⁷ Department of Public Health, HSE South East Area, Dublin, Ireland.
¹⁸ Provincial Institute of Hygiene, Antwerp, Belgium.
¹⁹ IMER Registry, Centre for Clinical and Epidemiological Research, University of Ferrara and Azienda Ospedaliero Universitario di Ferrara, Ferrara, Italy.
²⁰ Department of Public Health HSE-South, St Finbarr's Hospital, Cork, Ireland.
²¹ Auvergne Registry of Congenital Anomalies (CEMC-Auvergne), Department of Clinical Genetics, Centre de Référence des Maladies Rares, University Hospital of Clermont-Ferrand, Clermont-Ferrand, France.
²² Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy.
²³ Unit of Genetic Medical and Register of Congenital Malformations, CHU St Pierre La Reunion, Réunion, France.
²⁴ Population Health Sciences Institute, Newcastle University, Newcastle upon Tyne, UK.
²⁵ Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University Magdeburg, Magdeburg, Germany.
²⁶ Brittany Registry of Congenital Anomalies, CHU Rennes, Univ Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail), UMR_S 1085, Rennes, France.
²⁷ National Health Intelligence Unit, R&D Health Service Executive, Dublin, Ireland.
²⁸ French West Indies Registry, Registre des Malformations des Antilles (REMALAN), Maison de la Femme de la Mère et de l'Enfant, University Hospital of Martinique, Fort-de-France, France.
²⁹ Congenital Anomaly Register & Information Service for Wales (CARIS), Public Health Wales, Swansea, UK.
³⁰ Eurocat Hainaut-Namur, Institut de Pathologie et de Génétique, Charleroi, Belgium.
³¹ Births Registry Mainz Model, University of Mainz Medical Center, Mainz, Germany.
³² European Commission, Joint Research Centre (JRC), Ispra, Italy.
³³ Faculty of Life & Health Sciences, Ulster University, Northern Ireland, UK.
³⁴ Faculty of Medicine and Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton, Southampton, UK.

PMID: 36584346
DOI: 10.1002/ajmg.a.63107

Abstract

Amniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown. We aimed to determine the prevalence of ABS and LBWC in Europe from 1980 to 2019 and to describe the spectrum of congenital anomalies. In addition, we investigated maternal age and multiple birth as possible risk factors for the occurrence of ABS and LBWC. We used data from the European surveillance of congenital anomalies (EUROCAT) network including data from 30 registries over 1980-2019. We included all pregnancy outcomes, including live births, stillbirths, and terminations of pregnancy for fetal anomalies. ABS and LBWC cases were extracted from the central EUROCAT database using coding information responses from the registries. In total, 866 ABS cases and 451 LBWC cases were included in this study. The mean prevalence was 0.53/10,000 births for ABS and 0.34/10,000 births for LBWC during the 40 years. Prevalence of both ABS and LBWC was lower in the 1980s and higher in the United Kingdom. Limb anomalies and neural tube defects were commonly seen in ABS, whereas in LBWC abdominal and thoracic wall defects and limb anomalies were most prevalent. Twinning was confirmed as a risk factor for both ABS and LBWC. This study includes the largest cohort of ABS and LBWC cases ever reported over a large time period using standardized EUROCAT data. Prevalence, clinical characteristics, and the phenotypic spectrum are described, and twinning is confirmed as a risk factor.

Keywords: ADAM sequence; Streeter anomaly; birth defects; body stalk anomaly; constriction bands.

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References

REFERENCES

1. Adam, A. P., Curry, C. J., Hall, J. G., Keppler-Noreuil, K. M., Adam, M. P., & Dobyns, W. B. (2020). Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis. American Journal of Medical Genetics Part A, 182, 2646-2661.
1. Adrien, N., Petersen, J. M., Parker, S. E., & Werler, M. M. (2020). Vasoactive exposures and risk of amniotic band syndrome and terminal transverse limb deficiencies. Birth Defects Research, 112, 1074-1084.
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1. Bugge, M. (2012). Body stalk anomaly in Denmark during 20 years (1970-1989). American Journal of Medical Genetics Part A, 158A, 1702-1708.

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Amniotic band syndrome and limb body wall complex in Europe 1980-2019

Affiliations

Amniotic band syndrome and limb body wall complex in Europe 1980-2019

Authors

Affiliations

Abstract

References

REFERENCES

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources