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Risks associated with an elevated amniotic fluid alpha-fetoprotein level.

B F Crandall1, M Matsumoto

  • 1Department of Psychiatry, University of California, Los Angeles 90024.

American Journal of Medical Genetics
|April 1, 1991
PubMed
Summary
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Elevated alpha-fetoprotein (AFP) in amniotic fluid (AF) can indicate fetal abnormalities. However, most AF AFP levels between 2.0-2.4 MoM, especially with normal ultrasounds, result in healthy outcomes.

Area of Science:

  • Prenatal diagnostics
  • Biochemical markers in pregnancy
  • Fetal anomaly screening

Background:

  • Alpha-fetoprotein (AFP) is a crucial biomarker in prenatal screening.
  • Elevated maternal serum AFP or amniotic fluid AFP can suggest fetal abnormalities, necessitating further investigation.

Purpose of the Study:

  • To evaluate the diagnostic significance of elevated amniotic fluid alpha-fetoprotein (AF AFP) levels.
  • To determine the risk of fetal abnormalities associated with specific AF AFP ranges and acetylcholinesterase (AChE) results.

Main Methods:

  • Analysis of 85,000 consecutive amniotic fluid samples.
  • Measurement of AFP levels in multiples of the median (MoM).
  • Correlation of AFP levels with ultrasound findings, chromosome studies, and AChE testing.

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Main Results:

  • 2.2% of samples had AF AFP ≥ 2.0 MoM.
  • 93% of samples with AF AFP 2.0-2.4 MoM had normal outcomes.
  • 67% of samples with higher AF AFP levels indicated fetal abnormalities.
  • Positive AChE significantly increased abnormality risk, reaching 99% at AFP ≥ 5.0 MoM.
  • After normal ultrasound and chromosome studies, fetal abnormality risk was 1% for AF AFP 2.0-2.4 MoM and 3% for higher levels.

Conclusions:

  • Elevated AF AFP levels require careful interpretation in conjunction with other diagnostic tools.
  • A normal ultrasound and chromosome analysis significantly reduce the risk of fetal abnormality even with moderately elevated AF AFP.
  • AChE testing is a valuable adjunct for risk stratification in cases of elevated AF AFP.