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Background: Early diagnosis of prenatal illnesses and timely treatment of congenital anomalies has been the mainstay of the health system. In this study, our aim is to provide Roc curve multivariate modeling in detection of fetal abnormalities using associated markers in screening Down syndrome in the first and second periods of pregnancy. Materials and Methods: This is a descriptive-analytical study that uses information from two sets of data. In the first set, 152 individuals, who had the results of the first- trimester and second screening tests at risk and in the second group, 75 individuals with normal results. The studied variables included the serum markers in the first- trimester and the second- trimester screening, auxiliary variables (includes demographic information). Statistical analysis was performed by using ROC regression, incremental value analysis and Stata 12 software. Results: In evaluating the value of each diagnostic test in the presence of auxiliary variables using logistic regression and rock curves, the results generally showed that in screening the first- trimester of PAPP-A and in the screening the second-trimester,Inhibin-A can be used alone as a diagnostic test. Conclusion: Best diagnostic test in the first- trimester, respectively, PPAP-A, NT, FREE B-HCG and in the second- trimester of screening, respectively, Inhibin-A, HGG, UE3 and AFP were based on the area under the ROC curve. In addition, the most significant effect of the predictor variable on the outcome of the diagnostic test was family history. [ABSTRACT FROM AUTHOR]

Objective: Rapid diagnosis of Trisomy 21 Syndrome (Down Syndrome) patients using Real-Time quantitative Polymerase Chain Reaction (Real-Time qPCR) in order to establish a novel method for prenatal diagnosis in the future. Materials and Methods: A total of 5 ml of peripheral blood was obtained from each patient and normal controls (NR). Then, genomic DNA from lymphocytes was extracted using the salting out procedure. Gene dosage levels of DSCAM and (PMP22, DSCAM) in Down Syndrome and NR were analyzed using real-time quantitative PCR. The DSCAM/ PMP22 ratio was calculated according to the 2-ΔΔCt formula for all samples. Results: Real-time PCR showed a DSCAM/PMP22 ratio of 1.48 ± 0.18 and 1.01 ± 0.10 (p<0.001) in Down Syndrome and normal samples, respectively, demonstrating three copies of the target (DSCAM) gene in Trisomy 21 Syndrome. Conclusion: DSCAM/PMP22 ratio is increased significantly in Down Syndrome patients than NR (1.5 times). Therefore, the real-time quantitative PCR technique can be used as a sensitive, accurate and reliable technique for rapid and prenatal diagnosis of Trisomy 21 Syndrome. [ABSTRACT FROM AUTHOR]