Maternal urine hyperglycosylated hCG in pregnancies with Down syndrome

Stored maternal urine samples were used to determine the distribution of hyperglycosylated human chorionic gonadotrophin (H-hCG) levels in pregnancies with Down syndrome. A total of 349 samples from singleton pregnancies, including 45 with Down syndrome, were tested at 10-19 weeks' gestation. Urinary concentration was allowed for by expressing H-hCG in ng per mmol creatinine. The median level in Down syndrome was 3.63 multiples of the gestation-specific median in unaffected pregnancies (p < 0.0001, Wilcoxon rank-sum test, two-tail). However, creatinine levels were relatively low in cases and creatinine did not fully correct for concentration. When this bias was allowed for, the median level was 3.34 multiples of the normal median (MoM). The H-hCG elevation in affected pregnancies was more marked at 14 weeks' gestation or later: a median of 4.64 MoM and allowing for creatinine bias 4.46 MoM.