Collaborative study of maternal urine beta -core human chorionic gonadotrophin screening for Down syndrome

Abstract

Several studies have shown that second-trimester maternal urine beta-core human chorionic gonadotrophin (hCG) levels are raised on average in Down syndrome pregnancies. However, in all but one, testing was retrospective after extended sample storage and so we carried out a large international multicentre prospective study. 16 centres provided 6730 samples from 14-19 week pregnancies: 39 with Down syndrome, 12 with Edwards' syndrome, 42 with other aneuploidies, 52 unaffected twins and 6585 singleton unaffected pregnancies. Samples were from those having routine maternal serum screening in 6 centres and invasive prenatal diagnosis for reasons unrelated to maternal serum screening in 10 centres. Normalized levels of beta-core hCG (nmom/mmol creatinine) were expressed as multiples of the gestation-specific normal median (MoMs). The median beta-core hCG level in Down syndrome was 1.70 MoM (95 per cent confidence interval, 1.26-2.30); 14 (36 per cent) exceeded the normal 90th centile and 9 (23 per cent) the 95th centile. The median level in Edwards' syndrome was 0.23 MoM. On the basis of our results alone it is unlikely that urinary beta-core hCG will be a useful marker in Down syndrome screening practice. But the considerable variability in results between studies means that further research is needed before a reliable conclusion can be drawn.