Maternal serum markers in screening for Down syndrome

Clin Genet. 1990 Jan;37(1):35-43. doi: 10.1111/j.1399-0004.1990.tb03388.x.


The addition of two new markers in maternal serum, estriol and HCG, to those already known, namely the level of maternal serum alfa-fetoprotein and maternal age, considerably improves the expected results of a screening strategy for Down syndrome. The detection rate is slightly increased from 53.0% to 57.6%, but, more importantly, the false-positive rate decreases from 9.4% to 7.3%. It is our belief that, at least in women aged less than 35 years, a screening strategy based on a combination of maternal age and biochemical markers should be incorporated into antenatal care. For older women, the results of such a maternal serum test may refine counseling for genetic amniocentesis, as a much more explicit risk calculation can be performed than that based on age alone.

MeSH terms

  • Amniocentesis
  • Chorionic Gonadotropin / blood
  • Discriminant Analysis
  • Down Syndrome / blood
  • Down Syndrome / diagnosis*
  • Down Syndrome / epidemiology
  • Down Syndrome / genetics
  • Estriol / blood
  • Female
  • Genetic Markers / blood*
  • Genetic Testing*
  • Gestational Age
  • Humans
  • Predictive Value of Tests
  • Pregnancy
  • Risk Factors
  • alpha-Fetoproteins / metabolism


  • Chorionic Gonadotropin
  • Genetic Markers
  • alpha-Fetoproteins
  • Estriol