Recurrent Second Trimester Fetal Demise Caused by Hypercoiled Umbilical Cords

Area of Science:

• Perinatology
• Medical Genetics
• Pathology

Background:

• Umbilical cord flow impairment, a primary cause of fetal vascular malperfusion (FVM), significantly impacts fetal development.
• Hypercoiled umbilical cords are a known cause of impaired fetal blood flow, potentially leading to intrauterine fetal demise (IUFD), particularly in severe cases.
• While the exact mechanisms of umbilical cord patterning remain unclear, recurrent familial cases of hypercoiling suggest a potential genetic basis.

Purpose of the Study:

• To report two new cases of recurrent second-trimester IUFD.
• To investigate the association between FVM, umbilical cord hypercoiling, and potential genetic factors.
• To review and discuss previously published cases of familial hypercoiled umbilical cords.

Main Methods:

• Case report analysis of two families with recurrent second-trimester IUFD.
• Review of existing literature on hypercoiled umbilical cords and IUFD.
• Clinical and pathological correlation of fetal demise with umbilical cord abnormalities.

Main Results:

• Two additional cases of recurrent second-trimester IUFD secondary to FVM caused by umbilical cord hypercoiling were identified.
• The findings contribute to a growing body of evidence linking hypercoiled umbilical cords to fetal demise.
• A familial pattern in some cases points towards a possible genetic etiology.

Conclusions:

• Hypercoiled umbilical cords are a significant cause of FVM and recurrent IUFD.
• A subset of hypercoiled umbilical cords may have a genetic etiology.
• Further research into the genetic factors influencing umbilical cord development is warranted.