Alpha-fetoprotein and the prenatal diagnosis of central nervous system disorders. A review

Area of Science:

• Prenatal Diagnostics
• Biochemistry
• Medical Genetics

Background:

• Central nervous system (CNS) disorders like spina bifida and anencephaly pose significant challenges.
• Accurate early prenatal diagnosis is crucial for informed parental decision-making and genetic counseling.
• Previous diagnostic methods have limitations in sensitivity and specificity.

Purpose of the Study:

• To review the efficacy of amniotic fluid alpha-fetoprotein (AFP) measurements for prenatal diagnosis of CNS disorders.
• To evaluate the reliability of other amniotic fluid components for primary diagnosis.
• To assess the role of maternal serum AFP screening.

Main Methods:

• Review of existing literature on amniotic fluid AFP assays.
• Analysis of the diagnostic accuracy of AFP compared to other amniotic fluid markers.
• Evaluation of maternal serum AFP screening protocols.

Main Results:

• Amniotic fluid AFP measurement is a sensitive and specific method for diagnosing CNS disorders.
• Other amniotic fluid components (fetal macrophages, beta-trace protein, alpha2-macroglobulin, fibrinogen-degradation products) are less reliable for primary diagnosis.
• Maternal serum AFP assay serves as a valuable preliminary screening tool.

Conclusions:

• Amniotic fluid AFP testing significantly impacts counseling for mothers with a history of CNS disorders.
• Primary diagnoses should rely on established methods like amniotic fluid AFP, not less reliable markers.
• Maternal serum AFP screening can effectively identify pregnancies requiring further investigation via amniocentesis.