TY - JOUR
T1 - Amniotic band syndrome and limb body wall complex in Europe 1980-2019
AU - Bergman, Jorieke E H
AU - Barišić, Ingeborg
AU - Addor, Marie-Claude
AU - Braz, Paula
AU - Cavero-Carbonell, Clara
AU - Draper, Elizabeth S
AU - Echevarría-González-de-Garibay, Luis J
AU - Gatt, Miriam
AU - Haeusler, Martin
AU - Khoshnood, Babak
AU - Klungsøyr, Kari
AU - Kurinczuk, Jennifer J
AU - Latos-Bielenska, Anna
AU - Luyt, Karen
AU - Martin, Danielle
AU - Mullaney, Carmel
AU - Nelen, Vera
AU - Neville, Amanda J
AU - O'Mahony, Mary T
AU - Perthus, Isabelle
AU - Pierini, Anna
AU - Randrianaivo, Hanitra
AU - Rankin, Judith
AU - Rissmann, Anke
AU - Rouget, Florence
AU - Sayers, Gerardine
AU - Schaub, Bruno
AU - Stevens, Sarah
AU - Tucker, David
AU - Verellen-Dumoulin, Christine
AU - Wiesel, Awi
AU - Gerkes, Erica H
AU - Perraud, Annie
AU - Loane, Maria A
AU - Wellesley, Diana
AU - de Walle, Hermien E K
N1 - © 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
PY - 2023/4
Y1 - 2023/4
N2 - 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.
AB - 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.
U2 - 10.1002/ajmg.a.63107
DO - 10.1002/ajmg.a.63107
M3 - Article
C2 - 36584346
SN - 1552-4825
VL - 191
SP - 995
EP - 1006
JO - American Journal of Medical Genetics. Part A
JF - American Journal of Medical Genetics. Part A
IS - 4
ER -