Elevated maternal serum alpha‐fetoprotein, umbilical vein varix, and mesenchymal dysplasia: are they related?

Abstract

Variceal dilatation of the umbilical vein is a rare vascular anomaly of the umbilical cord. We present a patient case where dilatation of the umbilical vein was associated with an elevated maternal serum alpha-fetoprotein on prenatal testing and mesenchymal dysplasia on pathological evaluation of the placenta. Alterations in the villous structure of the placenta as in mesenchymal dysplasia may lead to increased placental permeability causing an elevated maternal serum alpha-fetoprotein on antenatal testing. Abnormal testing should be an indication for close evaluation of the placenta and placental structures, as well as the fetus.