Recurrent umbilical cord torsion leading to fetal death in 3 subsequent pregnancies - A case report and review of the literature

During a span of 3.5 years, a 30-year-old, gravida 9, pam 3 woman experienc ed 3 pregnancies complicated by umbilical cord torsion and constriction. In each case, the complication resulted in acute vascular compromise and intr auterine fetal demise. Cross examination disclosed cord constriction and to rsion at the fetal end of the cord in each instance. Histologic sections fr om the cord torsion sites demonstrated fibrosis and deficiencies in Wharton 's jelly in each case. Cytogenetic studies prepared using fetal villous tis sue demonstrated normal karyotypes in fetal cells from the first 2 pregnanc ies (46,XX and 46,XY, respectively). The karyotype from the third pregnancy showed a 46,XX,del(X)(q24) mutation in 3 of 15 cultured cells, while 12 of 15 cells possessed a normal 46,XX karyotype. This cytogenetic abnormality was not believed to represent the cause of fetal demise in this case. To ou r knowledge, this is the first report of umbilical cord torsion in 3 pregna ncies within one family. The familial clustering observed in this report su ggests that a genetic predisposition for umbilical cord torsion may exist i n some cases.