Clinical course and outcome of fetuses with isolated cystic nuchal lesions and normal karyotypes detected in the first trimester

Abstract

We assessed newborn outcome and infant development in cases of first-trimester fetal cystic nuchal lesion and normal karyotype. Information regarding newborn outcomes and infant growth and development was prospectively obtained from 32 consecutive pregnancies characterized by fetal cystic nuchal lesions detected in the first trimester (< or = 13.9 weeks' gestation) and normal karyotypes. Cystic nuchal lesions spontaneously resolved by the twentieth gestational week in 31 cases; all 31 infants had normal results at newborn examination and demonstrated normal growth and development at 12 months of age. Resolution did not occur in one case; prominent hygromas were repaired at birth with normal growth and development through 2 1/2 years of age. In most affected fetuses with normal karyotypes, spontaneous resolution will occur with favorable newborn and infant outcomes. However, patients should be counseled that resolution may not occur or that nonchromosome abnormalities may result in a less favorable outcome.