PROGNOSTIC ASSESSMENT OF AFP FOR NEURAL TUBE DEFECTS AND ITS ASSOCIATION WITH NUTRITIONAL, GENETIC AND ENVIRONMENTAL FACTORS
DOI:
https://doi.org/10.71000/ce48qm62Keywords:
Alpha-Fetoproteins, Diabetes Mellitus, Folic Acid Deficiency, Neural Tube Defects, Nutritional Status, Prenatal Diagnosis, TeratogensAbstract
Background: Neural tube defects (NTDs) are severe congenital anomalies of the central nervous system that arise due to incomplete neural tube closure during embryonic development. Globally, they remain a major cause of neonatal morbidity and mortality, with their burden compounded by nutritional deficiencies and genetic predispositions. Alpha-fetoprotein (AFP) has long been recognized as a vital biomarker in prenatal screening for NTDs, yet its prognostic role in relation to maternal nutritional, genetic, and environmental risk factors remains insufficiently explored.
Objective: The objective of this study was to evaluate trimester-specific variations in AFP levels and determine their diagnostic significance for NTD detection, while assessing associations with maternal nutritional, genetic, and environmental factors.
Methods: A descriptive cross-sectional study was conducted among 100 pregnant women aged 18–45 years. Maternal serum AFP was measured using enzyme-linked immunosorbent assay (ELISA) and electrochemiluminescence immunoassay (ECLIA). Demographic and risk factor data, including dietary intake, family history, and teratogen exposure, were collected via structured survey. Data were analyzed using SPSS v23, applying descriptive statistics and ANOVA for group comparisons.
Results: Among the cohort, 78% of women with elevated AFP levels were confirmed with NTDs. Nutritional deficiencies were prevalent in 67% of affected cases, with folate and vitamin B12 insufficiency most frequently. A family history of congenital anomalies was reported in 45%, while 23% had documented exposure to environmental teratogens. Mean AFP levels were significantly higher in NTD cases (89.6 ± 12.4 ng/mL) compared to unaffected pregnancies (42.3 ± 10.8 ng/mL, p < 0.001). The threshold of >80 ng/mL demonstrated a sensitivity of 82% and specificity of 88% for NTD detection.
Conclusion: AFP remains a valuable biomarker for prenatal screening, particularly in the second trimester, with elevated levels strongly predictive of NTDs. Integration of AFP screening with nutritional, genetic, and environmental assessments offers a more comprehensive approach to early diagnosis and prevention, ultimately improving maternal and fetal outcomes.
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Copyright (c) 2025 Rafia Anwer, Aamna Raasti, Laiba Noor, Mubashra Maryam, Muhammad Ahmad, Esha Babar, Safdar Ali (Author)
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