When ultrasound examination reveals placental enlargement, fetal karyotype analysis becomes a crucial step in differentiating PMD from molar pregnancy.[2,3] Most pregnancies with PMD involve female fetuses with a normal diploid karyotype (46XX).[8] The VEGF-D gene, located on the X chromosome (Xp22.31), is associated with angiogenesis,[38] and mutations at this locus are often found in pregnant women with PMD. This evidence concerns the gene VEGFD and Pelizeaus-Merzbacher spectrum disorder.