Death of a fetus with myeloproliferative disorder and trisomy 21

Abstract

A 27-year-old woman, gravida 2, para 1, presented at 24 weeks gestation with an intrauterine death. She previously consulted with maternal-fetal medicine because of a high suspicion of trisomy 21 after abnormal maternal serum screen and cell-free DNA test results. The patient elected to have chromosomal analysis following the death of the fetus, which confirmed a trisomy 21 diagnosis. Placental pathologic findings suggested that the cause of fetal death was total occlusion of the major vessels due to the accumulation of myeloid precursor cells, a novel mechanism. This case report discusses the rare finding of myeloproliferative disorder as a cause of death of a fetus with trisomy 21.