Evaluation of the Diagnostic Performance of Prenatal Screening Markers for Down Syndrome in the Turkistan Region.

Background

The Turkestan region is one of the regions with a high birth rate; therefore, analysis of the effectiveness of an early detection system for chromosomal abnormalities in this region is important for practical healthcare.

Objective

To evaluate the diagnostic potential of first-trimester prenatal screening markers for identifying Down syndrome in the Turkestan region.

Methods

A retrospective analytical study was conducted based on the analysis of medical records of pregnancies registered at perinatal centers in the Turkestan region between 2020 and 2025. The final analytical sample included 143 cases, comprising 71 pregnancies affected by Down syndrome and 72 randomly selected pregnancy cases included for comparative analysis. Maternal age, nuchal translucency (NT) thickness, pregnancy-associated plasma protein A (PAPP-A), free beta-human chorionic gonadotropin (free β-hCG), and fetal nasal bone hypoplasia/aplasia were assessed. Multivariable logistic regression and receiver operating characteristic (ROC) curve analysis were used.

Results

In the multivariable analysis, maternal age (odds ratio [OR] = 1.16; p < 0.001) and NT (OR = 3.01; p = 0.001) showed statistically significant independent associations with Down syndrome. PAPP-A and free β-hCG did not demonstrate statistically significant independent associations in the multivariable model. The area under the ROC curve (AUC) was 0.855 for Model 1 and 0.903 for Model 2, which additionally included fetal nasal bone status.

Conclusions

The exploratory models demonstrated good discriminatory performance within the present retrospective analytical sample. Maternal age and ultrasound markers showed the strongest associations with Down syndrome in the multivariable analysis. These models are not intended for direct clinical application at this stage and require external validation in independent and representative prenatal screening populations before their potential clinical utility can be assessed.