Outcomes of fetuses with umbilical cord cysts diagnosed during nuchal translucency examination

The purpose of this study was to report the outcomes of fetuses with the finding of an umbilical cord cyst during nuchal translucency examination in a low-risk population.

A retrospective study was conducted in a large tertiary referral academic center over a 3-year period. All fetuses with umbilical cord cysts during the nuchal translucency scan were recruited, and their medical data concerning the pregnancy and neonatal course were analyzed.

Eight fetuses (0.7%) had a diagnosis of an umbilical cord cyst among the 1080 nuchal translucency examinations. The mean cyst diameter was 19 mm (range, 10-38 mm). The male to female ratio was 6:2. Isolated umbilical cord cysts were found in 5 cases (62.5%), and in all, the nuchal translucency measured less than 2 mm; the cysts resolved; and the outcomes were normal. Three fetuses (37.5%) had additional associated malformations. In all of them, the cysts persisted during pregnancy. Two of them had increased nuchal translucency (3.2 and 4.2 mm). In these 2 cases, 1 fetus had a hypoplastic left heart with a normal karyotype, and the other had multiple malformations and trisomy18. Both pregnancies were terminated. The third case, with normal nuchal translucency, had an ectopic kidney and a patent urachus, which closed spontaneously at 23 weeks and resulted in a normal pregnancy outcome.

A favorable outcome is expected when an umbilical cord cyst diagnosed during late first trimester presents as an isolated finding associated with normal nuchal translucency and resolves later on.