Significance of a false-positive trisomy 18 multiple-marker screening test

Obstet Gynecol. 1997 Dec;90(6):938-42. doi: 10.1016/s0029-7844(97)00478-x.

Abstract

Objective: To determine if a false-positive trisomy 18 multiple-marker screening test (all three analytes low: maternal serum alpha-fetoprotein [AFP] at most 0.75 multiples of the median [MoM], unconjugated estriol at most 0.60 MoM, and hCG at most 0.55 MoM) indicates increased risk for obstetric complications or is related to maternal weight.

Methods: We accessed our genetic database to obtain multiple-marker screening test results, fetal karyotypes, and pregnancy outcomes from all patients with a normal multiple-marker screening test (n = 3900) and from all patients with a positive trisomy 18 screening test (n = 103) seen in the prenatal diagnosis clinic from 1992 to 1996. During this period, only maternal serum AFP was adjusted for maternal weight.

Results: A positive trisomy 18 screen identified five of 12 trisomy 18 fetuses. Women with a false-positive trisomy 18 screen were heavier (175.6 +/- 43.8 lb versus 159.9 +/- 37.9 lb, P < .001) and younger (29.7 +/- 6.5 years versus 32.3 +/- 6.5 years, P < .001) than women with a normal multiple-marker screening test, but were not at increased risk for pregnancy complications. Weight-adjusting all three analytes reduced the false-positive trisomy 18 screen rate by 42% (from 1.9% to 1.1%) but did not change the trisomy 18 detection rate.

Conclusion: A false-positive trisomy 18 screening test does not indicate increased risk to develop pregnancy complications and may be related to inadequate correction for increased maternal weight.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Bias
  • Case-Control Studies
  • Chorionic Gonadotropin / blood*
  • Chromosomes, Human, Pair 18*
  • Estriol / blood*
  • False Positive Reactions
  • Female
  • Genetic Markers / genetics*
  • Genetic Testing / standards*
  • Gestational Age
  • Humans
  • Pregnancy
  • Pregnancy Outcome
  • Sensitivity and Specificity
  • Trisomy / genetics*
  • alpha-Fetoproteins / analysis*

Substances

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