Body stalk anomaly in a 9-week pregnancy.

Fabio E Quijano,Roland Axt-Fliedner,Mariana Echeverry,María Mónica Rey

doi:10.1155/2014/357285

Fabio E Quijano, Roland Axt-Fliedner + Show 2 more

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https://doi.org/10.1155/2014/357285

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Abstract

Body stalk anomaly is a rare and severe malformation syndrome in which the exact pathophysiology and trigger factors are still unknown. This is a case of a 30-year-old patient who underwent ultrasound at 9 weeks of gestation. It revealed an abnormal location of the inferior body of the embryo in the coelomic space. The findings suggested a short umbilical cord syndrome. In order to confirm the diagnosis, the patient was scheduled for a second ultrasonography at 11 weeks of gestation. The obtained images, confirmed the location of the inferior body in the coelomic space with no visible bladder, absence of the right leg, severe abdominal wall defect, consistent with an omphalocele, and a short 5 mm umbilical cord. These last ultrasonographic findings were consistent with body stalk anomaly. Because of severe malformation incompatible with life, the patient was offered termination of pregnancy. Pathologic examination confirmed the suspected pathology of body stalk anomaly.

Highlights

Body stalk anomaly is a severe defect of the abdominal wall in which there is evisceration of abdominal organs and in more severe cases of thoracic organs as well
The obtained images confirmed the location of the inferior body in the coelomic space, with no visible bladder, absence of the right leg (Figure 1(b)), a severe abdominal wall defect, compatible with an omphalocele, and a short umbilical cord of 5 mm (Figure 1(c))
Body stalk anomaly is a term used to describe a pattern of severe defects that in most of the reported cases proves to be incompatible with life

Summary

Introduction

Body stalk anomaly is a severe defect of the abdominal wall in which there is evisceration of abdominal organs and in more severe cases of thoracic organs as well This congenital malformation is accompanied by severe kyphoscoliosis and the presence of a rudimentary umbilical cord which is usually short or even absent [1]. In a most recent multicenter study of Daskalakis et al, in which 106,727 fetuses between 10 and 14 weeks of gestation were analyzed, an incidence of 1/7,500 pregnancies was found [1] This great discrepancy in the incidence rates suggests that this type of malformation might be responsible for a significant number of spontaneous abortions during the first trimester of pregnancy, and the real incidence for this anomaly might be underestimated. What is really known about the defects of the body stalk is that there are environmental and genetic factors that play an important role in the pathophysiology of this complex and poorly understood condition [8]

Case Report

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Discussion