Introduction

Umbilical cord cysts have been described as anechoic masses of the umbilical cord¹ that can be detected by prenatal ultrasound from 8 to 9 weeks gestational age when the umbilical cord is well developed.² Previous studies have reported that the prevalence of umbilical cord cysts in the first trimester ranged from 0.4% to 3.4%.³ Although rare, umbilical cord cysts represent the second most common anomaly of the umbilical cord.⁴ Umbilical cord cysts can be isolated or nonisolated ultrasound findings during the pregnancy period, and the prognosis varies with the status of multiple or unique presentation and with persistent or progressive size.⁵ If no other anomaly is found, the prognosis is mostly excellent.

It was documented that the umbilical cord might be considered a prominent prenatal feature of foetal aneuploidy.^1,5 With the development of prenatal diagnostic techniques, common foetal aneuploid chromosome abnormalities can be identified by noninvasive prenatal tests (NIPTs).⁶ However, advice should be given to the parents when the foetus has ultrasound findings of umbilical cord cyst by performing NIPT or invasive prenatal diagnosis with chromosomal microarray analyses (CMA) or other genetic tests, especially in isolated cases. Based on this, we conducted this retrospective cohort study to analyse the foetal chromosome and copy number variation results of isolated and nonisolated umbilical cord cysts.

Materials and Methods

Study Population

This retrospective cohort study was conducted between October 2014 and June 2021 at Guangdong Women and Children Hospital. Genetic assay data from 49 singleton pregnancies and 2 monochorionic diamniotic (MCDA) twin pregnancies diagnosed with umbilical cord cysts were collected. When umbilical cord cysts were…