A survey to assess the incidence of Down syndrome risk in rural southwestern Romania.

Despite the significant evolution in recent years in the medical field, many fetal conditions that can be detected in the early stages, remain a social and economic burden due to a lack of diagnostic and treatment programs. The main objective of the present study was to realize a screening program related to the early detection of Down syndrome, by analyzing biochemical and imaging markers, in women from the rural areas of Southwest Romania. Accordingly, data from 269 pregnant women were taken into evaluation for maternal age, maternal weight, smoking and diabetic statuses, along with ultrasound measurements that were performed to establish fetal nuchal translucency (FNT) and biochemical analysis of free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein (PAPP-A). Patients at high risk for trisomy 21 (≥1:250) were counseled and the optimal protocol was established for each case. Of the 269 patients studied, 5.6% were included in the risk group based on β-hCG-associated MoM (multiple median approaches) analysis, sonographic measurements and maternal age correlation. Specifically, 60% of patients at risk presented a β-hCG MoM value >1.5 and 20% of patients at risk presented a value ≤0.5 for PAPP-A MoM, and the average maternal age was 33. Measurement of FNT and serum markers, together with associated MoM intervals, was not sufficient to establish the diagnosis of trisomy 21 and to make a risk group inclusion. In summary, the association between sonographic measurements and serum marker values, together with maternal age, are predetermined and indispensable conditions for the most accurate classification in a high-risk group.