Urinary analyte screening: a noninvasive detection method for Down syndrome?

摘要

Prenatal screening for Down syndrome using maternal serum markers achieves detection rates of 60-80% with a 5% false positive rate. Improvement in the accuracy of screening, as well as its ease and safety, will increase the use of such tests. The most effective of the current serum markers is human chorionic gonadotropin (hCG). Studies on beta core fragment (beta CF), the major urinary metabolite of hCG, have indicated that screening with beta CF and other markers measured in maternal urine might improve the detection of Down syndrome and provide a less expensive and simpler test. However, recent results have been unusually variable. Although it has great potential, the true clinical value of maternal urine screening to detect Down syndrome still remains to be determined.