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Related Experiment Videos

Elevated maternal serum alpha-fetoprotein in triploidy.

W F O'Brien1, R A Knuppel, B Kousseff

  • 1Department of Obstetrics and Gynecology, University of South Florida College of Medicine, Tampa.

Obstetrics and Gynecology
|June 1, 1988
PubMed
Summary

Greatly elevated maternal serum alpha-fetoprotein (MSAFP) can indicate a triploid fetus. Amniotic fluid and fetal serum AFP levels were normal, highlighting the need for fetal karyotyping for accurate diagnosis.

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Area of Science:

  • Reproductive Medicine
  • Medical Genetics
  • Prenatal Diagnostics

Background:

  • Maternal serum alpha-fetoprotein (MSAFP) screening is a common prenatal test.
  • Elevated MSAFP levels can suggest various fetal abnormalities.
  • Triploidy is a rare chromosomal abnormality with significant pregnancy complications.

Observation:

  • Two cases presented with markedly elevated MSAFP levels.
  • The pregnancies were associated with fetuses diagnosed with triploidy.
  • Alpha-fetoprotein (AFP) concentrations in amniotic fluid and fetal serum were within normal limits.

Findings:

  • Significantly elevated maternal serum AFP can be a marker for fetal triploidy.
  • Discordance between maternal serum AFP and fetal/amniotic fluid AFP levels was observed.

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  • Fetal karyotyping is essential for definitive diagnosis of triploidy.
  • Implications:

    • Early identification of triploidy is crucial due to associated risks.
    • Severe preeclampsia is a significant concern in triploid pregnancies.
    • Clinicians should consider triploidy in cases of unexplained, highly elevated MSAFP.