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Article Dans Une Revue American Journal of Medical Genetics Part A Année : 2023

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

Jorieke Bergman
Ingeborg Barišić
Marie-Claude Addor
  • Fonction : Auteur
Paula Braz
  • Fonction : Auteur
Clara Cavero-Carbonell
  • Fonction : Auteur
Elizabeth Draper
  • Fonction : Auteur
Miriam Gatt
  • Fonction : Auteur
Martin Haeusler
  • Fonction : Auteur
Kari Klungsøyr
  • Fonction : Auteur
Jennifer Kurinczuk
  • Fonction : Auteur
Anna Latos-Bielenska
  • Fonction : Auteur
Karen Luyt
  • Fonction : Auteur
Danielle Martin
  • Fonction : Auteur
Carmel Mullaney
  • Fonction : Auteur
Vera Nelen
  • Fonction : Auteur
Amanda Neville
  • Fonction : Auteur
Mary O'Mahony
  • Fonction : Auteur
Isabelle Perthus
  • Fonction : Auteur
Anna Pierini
  • Fonction : Auteur
Hanitra Randrianaivo
  • Fonction : Auteur
Judith Rankin
  • Fonction : Auteur
Anke Rissmann
Gerardine Sayers
  • Fonction : Auteur
Bruno Schaub
  • Fonction : Auteur
Sarah Stevens
  • Fonction : Auteur
David Tucker
  • Fonction : Auteur
Christine Verellen-Dumoulin
  • Fonction : Auteur
Awi Wiesel
  • Fonction : Auteur
Erica Gerkes
  • Fonction : Auteur
Annie Perraud
  • Fonction : Auteur
Maria Loane
Diana Wellesley
  • Fonction : Auteur
Hermien de Walle

Résumé

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.

Dates et versions

hal-04204625 , version 1 (12-09-2023)

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Jorieke Bergman, Ingeborg Barišić, Marie-Claude Addor, Paula Braz, Clara Cavero-Carbonell, et al.. Amniotic band syndrome and limb body wall complex in Europe 1980–2019. American Journal of Medical Genetics Part A, 2023, 191 (4), pp.995-1006. ⟨10.1002/ajmg.a.63107⟩. ⟨hal-04204625⟩
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