ArticleIranian journal of medical sciences2026
The Association between Serum Biochemical Markers and Early Amniocentesis in Diagnosing Chromosomal Anomalies: A Cross-Sectional Study in Southern Iran, 2021-2022.
Article in Iranian journal of medical sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Efforts to improve prenatal diagnosis of Down syndrome have been made, with amniocentesis representing an invasive procedure, and maternal serum biochemical markers are among the non-invasive options. This study aimed to examine the association between serum biochemical marker values and amniocentesis results in the prenatal diagnostics of Down syndrome in early pregnancy. Methods: In a cross-sectional study, data from pregnant women in the first trimester undergoing amniocentesis test for the diagnosis of fetal genetic diseases were collected during 2021-2022. Maternal weight, maternal age, gestational age at nuchal translucency (NT) scan, nasal bone (NB) status, and serum chemical biomarkers-including pregnancy-associated plasma protein-A (PAPP-A), and beta-human chorionic gonadotropins (β-hCG) were assessed. Results: Of 1,987 amniocentesis cases, 96.5% were normal, and 3.5% were abnormal. Down syndrome was present in approximately 3% of cases. Maternal weight was significantly lower in the abnormal amniocentesis group than in the normal group. After adjusting for maternal weight, maternal age, NT, and β-hCG were significantly higher in the abnormal amniocentesis group, whereas PAPP-A was lower. The NB status did not differ between groups. A PAPP-A level of <0.42 multiple of median (MoM) (sensitivity=90%, specificity=68%) and a β-hCG level of ≥1.52 MoM (sensitivity=76%, specificity=70%) acceptably predicted Down syndrome in abnormal amniocentesis cases. Among the 69 abnormal amniocentesis cases, 49 cases had Down syndrome; of these, 75.5% had a Down syndrome risk of ≤1:100. Conclusion: Both β-hCG and PAPP-A had independent diagnostic value in predicting Down syndrome in early pregnancy. It is recommended that a Down syndrome risk of up to 1:100 warrant direct amniocentesis, while cases with a risk greater than 1:100 should be offered non-invasive alternatives.
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