Clinical Significance and Prognosis of Prenatal Diagnosis of Large Umbilical Cord Cysts—A Review Triggered by a Clinical Case

TL;DR

This paper reviews the clinical significance and outcomes of large umbilical cord cysts, highlighting their uncertain prognosis and potential risks for fetal complications.

Contribution

The study presents a case of a large umbilical cord cyst leading to fetal demise and reviews existing literature to assess prognosis and risk factors.

Findings

Large umbilical cord cysts are associated with an uncertain and potentially unfavorable prognosis.

Trisomy 18 was the most frequent genetic disorder found in cases with modified genetic test results.

Single umbilical cord cysts are more common than multiple cysts, with no significant difference in localization.

Abstract

Background/Objectives: Prevalence of umbilical cord cysts is largely unknown, mainly due to small dimensions and to the fact that only placental and fetal insertion of the umbilical cord are usually assessed. Older studies report a total prevalence of about 3%, regardless of the size. To date, no correlation between the gestational age, the size of the cyst at the moment of diagnosis and pregnancy prognosis can be made. Methods: We managed a case of a large umbilical cyst diagnosed in the first trimester. As our experience with this pathology was limited, we performed a systematic review in order to find out the optimal management. Results: We report a case of a large umbilical cord cyst that ended in fetal demise at 13 weeks in the absence of any chromosomal and structural anomalies. Our results differ from what was expected from our literature review. Sixteen papers were included in our analysis. According to the selected papers, single cysts are more frequent than multiple cysts (79% single cysts). The mean value of the maximum diameter of the cyst was 32 mm, and there was no difference in number considering the localization of the cyst. Considering the cases in which genetic testing was performed, there were 22.76% modified results. The most frequent genetic disorder was trisomy 18 (53.57% from the modified results). Conclusions: Large umbilical cord cysts are correlated with uncertain prognosis. We made the conclusion that large umbilical cord cystic lesions might have an unfavorable prognosis. Although there are case series that have shown an unproblematic evolution of the pregnancy, large umbilical cysts could be associated with increased risk of fetal anomalies and intrauterine fetal death.

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