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 bod
y was in the amniotic cavity, whereas the lower part teas in the celom
ic cavity. The nuchal translucency thickness teas above the 95th centi
le in ten (71.4%) of the cases, but the fetal karyotype was normal in
all 12 fetuses evaluated. The findings suggest that early amnion ruptu
re before obliteration of the celomic cavity is a possible cause of th
e syndrome.