Human Genetics

, Volume 45, Issue 1, pp 85–88 | Cite as

Anencephaly in trisomy 18 associated with elevated alpha-1-fetoprotein in amniotic fluid

  • Ulrik Merrild
  • Vibeke Schiøler
  • Flemming Christensen
  • Ewald Wolny
  • Carl Johan Edeling
Clinical Case Reports


Elevated levels of alpha-1-fetoprotein (AFP) were found in the amniotic fluid of a 36-year-old woman in the 15th week of gestation. Because of this and the results of repeated ultrasonography, abortion was induced. An anencephalic fetus with trisomy 18 was delivered. The possible correlation among neural-tube defects, chromosomal abnormalities, and level of AFP is discussed.


Internal Medicine Elevated Level Metabolic Disease Amniotic Fluid Chromosomal Abnormality 
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Copyright information

© Springer-Verlag 1978

Authors and Affiliations

  • Ulrik Merrild
    • 1
  • Vibeke Schiøler
    • 2
  • Flemming Christensen
    • 3
  • Ewald Wolny
    • 3
  • Carl Johan Edeling
    • 4
  1. 1.Department of Medical GeneticsThe John F. Kennedy InstituteGlostrupDenmark
  2. 2.Department of Clinical ChemistryCopenhagen County HospitalHerlevDenmark
  3. 3.Department of Obstetrics and GynaecologyCopenhagen County HospitalGlostrupDenmark
  4. 4.Department of Nuclear MedicineRigshospitaletCopenhagenDenmark

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