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.

Background/Objectives: In Kazakhstan, pregnant women reach prenatal screening mainly through primary care, where nurses and midwives make many of the routine antenatal contacts. How well this workforce knows the screening pathway has not been measured. We assessed knowledge, attitudes and practices (KAP) regarding prenatal screening and genetic diagnosis among health workers in antenatal care. Methods: A cross-sectional online survey of 1331 health workers in the Turkistan region (June–July 2026) was conducted. The questionnaire was developed for this study, mapped to the national orders, and has not been externally validated. Knowledge was summarised as an index of 12 factual items and self-reported practice as an index of seven items; attendance at genetics training was analysed as an exposure, and attitude items were reported individually. We used Wilson intervals, nonparametric tests and logistic regression with robust standard errors. Results: Nurses made up 67.8% of respondents and 86.1% worked in primary care. Respondents answered 54.1% of the knowledge items correctly on average (55.2% after removing one item with an incorrect answer key), and 14.6% reached the 80% threshold. Only 16.4% knew that the combined-screening results are interpreted as multiples of the median. Over 84% supported screening and referral, but 38.8% felt fully confident in their own knowledge. Good practice was reported by 42.3%. Recent genetics training was associated with good practice (adjusted OR 2.54, 95% CI 1.90–3.40) but not with good knowledge (0.89, 0.63–1.26). Conclusions: Support for prenatal genetic services is broad, while factual knowledge is limited and concentrated in a few items. Training attendance was linked to reported practice but not to knowledge, and the design cannot show why. Training for primary-care staff should be evaluated by knowledge testing rather than attendance.