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

Amniotic band syndrome (ABS) and limb body wall complex (LBWC) are two rare congenital conditions with an overlapping phenotype of multiple congenital anomalies and their aetiology is unknown. The study 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 thirty registries over 1980-2019. 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 over 1980-2019. 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 standardised EUROCAT data. Prevalence, clinical characteristics and the phenotypic spectrum are described and twinning is confirmed as a risk factor.

BERGMAN Jorieke E.H.;  BARISIC Ingeborg;  ADDOR Marie-Claude;  BRAZ Paula;  CAVERO-CARBONELL Clara;  DRAPER Elizabeth;  ECHEVARRIA-GONZALES-DE-GARIBAY Luis;  GATT Miriam;  HAEUSLER Martin;  KHOSHNOOD Babak;  KLUNGSOYR Kari;  KURINCZUK Jennifer;  LATOS-BIELENSKA Anna;  LUYT Karen;  MARTIN Danielle;  MULLANEY Carmel;  NELEN Vera;  NEVILLE Amanda;  O'MAHONY Marie T.;  PERTHUS Isabelle;  PIERINI Anna;  RANDRIANAIVO Hanitra;  RANKIN Judith;  RISSMANN Anke;  ROUGET Florence;  SAYERS Gerardine;  SCHAUB Bruno;  STEVENS Sara;  TUCKER David;  VERELLEN-DUMOULIN Christine;  WIESEL Awi;  GERKES Erica H;  PERRAUD Annie;  LOANE Maria;  WELLESLEY Diana;  DE WALLE Hermien; 

2023-07-04

WILEY

JRC131678

1552-4825 (online),   

https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63107,    https://publications.jrc.ec.europa.eu/repository/handle/JRC131678,   

10.1002/ajmg.a.63107 (print),