A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent constellations of embryonic malformations (RCEMs) will be described. Livebirths, stillbirths, and termination of pregnancies for fetal anomalies delivered between January 1, 1997, and December 31, 2019, with LBWC and BSA were abstracted from the Alberta Congenital Anomalies Surveillance System, a population-based program. There were 51 cases with LBWC, giving a frequency of 1 in 21, 277. Fifty (98.0%) had a body wall defect, and 49 (96.1%) a limb anomaly. Eleven (21.6%) had exencephaly/encephalocele with the required diagnostic facial cleft. Scoliosis, often described as severe, was reported for 39 (76.5%) cases, and a short cord in 21 (41.2%). Twenty (39.2%) also met the diagnostic criteria for BSA, and 10 (19.6%) for at least one other RCEM. An additional seven cases with BSA were included for comparison of anomalies. Modifications to the existing clinical diagnostic criteria for LBWC, to include prenatal imaging findings, are supported by this review of 51 cases.