Abstract

Objectives To characterise the ultrasonographic findings and outcomes of a series of cases of body stalk anomaly (BSA) diagnosed prenatally and to perform a systematic literature review. Methods A multicentric, retrospective, descriptive study of all BSA cases diagnosed prenatally in 4 maternal-fetal centres from 2005 to the date. We also conducted a literature search and included all series or single cases published. Results Our study included 36 cases of BSA. The main maternal age was 28,6 years (range 18–43). None of the patients referred tobacco or drugs use. The mean gestational age at diagnosis was 17 weeks. The main features were: abdominoschisis (72%), kyphoscoliosis (63.9%) and limb defects (55.6%). As for the outcomes, 29% of the patients chose to undergo elective termination of pregnancy, 5.5% had spontaneous abortion, 42% intrauterine death and 22.6% were stillborn. We then reviewed 25 studies and added our own cases in the analysis to sum up a total of 139 cases analysed and showed in table 1. Conclusions BSA is a rare entity, diagnosed as early as at the first trimester US. It is important to know the characteristic features in order to make a correct diagnosis and rule out other differential diagnosis. It is most probably a disruptive disorder, hence is not generally associated to genetic disorders, given the poor prognosis.