Body stalk anomaly at 10-14 weeks of gestation

In a multicenter project of screening for chromosomal defects by fetal nuchal translucency thickness and maternal age at 10-14 weeks, 14 of 106 727 fetuses examined had body stalk anomaly. The ultrasonographic features were a major abdominal wall defect, severe kyphoscoliosis and a short umbilical cord. In all cases, the upper pars of the fetal body was in the amniotic cavity, whereas the lower part teas in the celomic cavity. The nuchal translucency thickness teas above the 95th centile in ten (71.4%) of the cases, but the fetal karyotype was normal in all 12 fetuses evaluated. The findings suggest that early amnion rupture before obliteration of the celomic cavity is a possible cause of the syndrome.