An association between low maternal serum alpha-fetoprotein and fetal chromosomal abnormalities

Am J Obstet Gynecol. 1984 Apr 1;148(7):886-94. doi: 10.1016/0002-9378(84)90530-1.


An index case of "undetectable" maternal serum alpha-fetoprotein at 16 weeks in the first pregnancy of a 28-year-old woman was associated with birth of an infant with trisomy 18. This fortuitous finding stimulated a retrospective study of prenatally diagnosed chromosomal abnormalities. From among a series of 3,862 genetic amniocenteses, 32 cases of fetal autosomal trisomy were diagnosed for which corresponding maternal serum and amniotic fluid alpha-fetoprotein data could be retrieved. From a second laboratory, nine additional cases were added. The maternal serum alpha-fetoprotein levels expressed as multiples of the median were significantly lower in distribution for these 41 women than those from a group of normal matched control subjects (p less than 0.001). Since maternal age is shown to be a less than adequate predictor of autosomal trisomic birth, we proposed that a low level of maternal serum alpha-fetoprotein obtained through routine screening may prove to be valuable in improving the prenatal detection of these serious anomalies.

MeSH terms

  • Adolescent
  • Adult
  • Amniotic Fluid / analysis
  • Aneuploidy
  • Chromosome Aberrations / diagnosis*
  • Chromosome Disorders
  • Female
  • Fetal Diseases / diagnosis*
  • Gestational Age
  • Humans
  • Maternal Age
  • Middle Aged
  • Pregnancy
  • Prenatal Diagnosis / methods
  • Random Allocation
  • Retrospective Studies
  • Trisomy
  • alpha-Fetoproteins / analysis*


  • alpha-Fetoproteins