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, para 3 woman experienced 3 pregnancies complicated by umbilical cord torsion and constriction. In each case, the complication resulted in acute vascular compromise and intrauterine fetal demise. Gross examination disclosed cord constriction and torsion at the fetal end of the cord in each instance. Histologic sections from the cord torsion sites demonstrated fibrosis and deficiencies in Wharton's jelly in each case. Cytogenetic studies prepared using fetal villous tissue demonstrated normal karyotypes in fetal cells from the first 2 pregnancies (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 our knowledge, this is the first report of umbilical cord torsion in 3 pregnancies within one family. The familial clustering observed in this report suggests that a genetic predisposition for umbilical cord torsion may exist in some cases.