Can a genetic condition cause umbilical cord (UC) avulsion?

Genetic Conditions Associated with Umbilical Cord Avulsion

There are no specific genetic conditions directly causing umbilical cord avulsion, but certain genetic abnormalities may increase risk through associated vascular or structural cord anomalies.

Umbilical Cord Avulsion: Overview

Umbilical cord avulsion (rupture of cord vessels) is a rare but potentially catastrophic event that can lead to rapid fetal hemorrhage and demise if not immediately addressed. While not primarily genetic in origin, certain genetic conditions may predispose to cord abnormalities that increase avulsion risk:

• Umbilical cord avulsion is most commonly associated with abnormal cord insertions or structural anomalies rather than specific genetic syndromes 1
• Furcate cord insertion (branching of umbilical vessels without protective Wharton's jelly) can lead to vessel rupture during delivery 1
• Single umbilical artery (SUA), which occurs in 0.25-1% of singleton pregnancies, may be associated with other vascular anomalies that could theoretically increase risk 2

Genetic Conditions with Associated Cord Abnormalities

While no genetic syndrome directly causes cord avulsion, certain genetic conditions may have associated umbilical cord abnormalities:

• Trisomies and chromosomal abnormalities may present with abnormal cord insertions or vessel development 3
• Single umbilical artery (SUA) with other structural abnormalities has 4-50% association with aneuploidy 3
• Isolated SUA (without other anomalies) does not appear to have increased aneuploidy risk 2

Risk Factors for Cord Avulsion

Several factors increase the risk of umbilical cord complications that could lead to avulsion:

• Abnormal cord insertions (velamentous, furcate) lack protective Wharton's jelly around vessels 1, 4
• Excessively long or short umbilical cords may predispose to vessel thrombosis and hematomas 4
• Twin pregnancies have higher rates of velamentous cord insertion and associated complications 3
• Cord strictures, especially at the fetal end, have been associated with unexplained fetal demise 4

Clinical Presentation and Management

Cord avulsion presents as an obstetric emergency:

• Presents with sudden fetal distress, often with fetal tachycardia or bradycardia 5
• May be preceded by decreased fetal movement 5
• Requires immediate cesarean delivery when suspected 6, 5
• Neonatal resuscitation and possible transfusion are often required 5, 1

Prevention and Surveillance

For pregnancies with identified cord abnormalities:

• Detailed ultrasound examination should be performed when SUA or other cord anomalies are identified 2
• Third-trimester ultrasound is recommended to evaluate fetal growth in cases with SUA 2
• Consider weekly antenatal fetal surveillance beginning at 36 weeks for fetuses with isolated SUA 3
• Notify pediatric providers at delivery about prenatal cord anomalies 2

Prognosis

The outcome depends on prompt recognition and intervention:

• Historically, spontaneous cord vascular rupture led to rapid neonatal demise 5
• With immediate intervention, intact newborn survival is possible 5, 1
• Perinatal mortality from cord prolapse (a different but related condition) ranges from 6-10% in high-income countries to 23-27% in low-income countries 6

Conclusion

While no specific genetic syndrome directly causes umbilical cord avulsion, certain genetic conditions may be associated with umbilical cord abnormalities that increase the risk. Careful prenatal monitoring of pregnancies with identified cord anomalies and prompt intervention when fetal distress occurs are essential for improving outcomes.