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Alpha-fetoprotein and its value for predicting pregnancy outcomes - a re-evaluation
Ayham Alhaj Darouich1, Thomas Liehr1, Anja Weise1
1Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.
The amniotic fluid alpha-fetoprotein (AF-AFP) test is reliable for population studies but shows high individual variation. Combining AF-AFP with genetic counseling and other tests like ultrasonography improves diagnostic accuracy for fetal abnormalities.
Area of Science:
- Prenatal diagnostics
- Biochemistry
- Genetics
Background:
- Alpha-fetoprotein (AFP) is a protein found in amniotic fluid (AF-AFP).
- AFP levels can indicate fetal genetic or clinical abnormalities.
- The exact biological role of AFP is not fully understood.
Purpose of the Study:
- To determine standard amniotic fluid alpha-fetoprotein (AF-AFP) levels.
- To evaluate the reliability of AF-AFP testing in prenatal diagnostics.
- To assess the predictive value of AF-AFP in conjunction with other diagnostic methods.
Main Methods:
- Retrospective study of 3,119 singleton and 56 twin pregnancies.
- Analysis of amniotic fluid alpha-fetoprotein (AF-AFP) levels between 12-36 weeks gestation.
- Inclusion of acetylcholinesterase (AChE) test results, ultrasonography, and karyotypic findings for selected cases.
Main Results:
- AF-AFP testing is reliable for population studies but exhibits significant individual variability.
- AF-AFP multiples of medians (MoM) over 1.7 indicated neural tube defects/omphalocele in 6.3% of cases.
- Elevated AF-AFP levels were associated with severe sonographic signs in 62% and cytogenetic abnormalities in 82% of cases.
Conclusions:
- Individual AF-AFP results show high variability, impacting predictive value.
- AF-AFP testing is most reliable when integrated with cytogenetics and ultrasonography.
- Comprehensive genetic counseling is essential for accurate interpretation of AF-AFP results in prenatal diagnostics.
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