First-trimester umbilical cord diameter: a novel marker of fetal aneuploidy

To compare the umbilical cord diameter at 10-14 weeks of gestation of chromosomally normal and abnormal fetuses.

In a consecutive series of women, who were undergoing routine sonographic evaluation at 10-14 weeks of gestation, umbilical cord diameter and nuchal translucency were measured. Reference ranges for umbilical cord diameter according to gestational age and crown-rump length were constructed. Fetal karyotype was obtained at chorionic villus sampling, amniocentesis or at delivery in newborns with features suspicious for chromosomal abnormalities.

During the study period, 784 patients met the inclusion criteria. Of these, a fetal or placental chromosomal abnormality was present in 17 cases. The mean umbilical cord diameter increased with gestational age (r = 0.41, P < 0.001). The proportion of fetuses with an umbilical cord diameter above the 95th centile was higher in the presence of fetal or placental chromosomal abnormalities than in normal fetuses (5/17 vs. 39/767, P < 0.01). Among fetuses with an abnormal fetal or placental karyotype, nuchal translucency was above the 95th centile for gestational age in 10 cases. When only fetal chromosomal abnormalities were considered (n = 14), the combined detection rate was 85.7%(12/14).

Sonographic assessment of the umbilical cord in early gestation appears to identify a subset of fetuses at increased risk of chromosomal abnormalities.