Abstract: Cytogenetic analysis still remains the gold standard method for prenatal diagnosis of trisomy 21 (Down syndrome, DS). Nevertheless, the conventional cytogenetic analysis needs live cultured cells and is too time-consuming for clinical application. In contrast, molecular methods such as FISH, QF-PCR, MLPA and quantitative Real-time PCR are rapid assays with results available in 24h. In the present study, we have successfully used a novel MGB TaqMan probe-based real time PCR assay for rapid diagnosis of trisomy 21 status in Down syndrome samples. We have also compared the results of this molecular method with corresponding results obtained by the cytogenetic analysis. Blood samples obtained from DS patients (n=25) and normal controls (n=20) were tested by quantitative Real-time PCR in parallel to standard G-banding analysis. Genomic DNA was extracted from peripheral blood lymphocytes. A high precision TaqMan probe quantitative Real-time PCR assay was developed to determine the gene dosage of DSCAM (target gene on 21q22.2) relative to PMP22 (reference gene on 17p11.2). The DSCAM/PMP22 ratio was calculated according to the formula; ratio=2 -ΔΔCT. The quantitative Real-time PCR was able to distinguish between trisomy 21 samples and normal controls with the gene ratios of 1.49±0.13 and 1.03±0.04 respectively (p value
Abstract: Early Intervention Program (EIP) is required to
improve the overall development of children with Trisomy 21 (Down
syndrome). In order to help trainer and parent in the implementation
of EIP, a support system has been developed. The support system is
able to screen data automatically, store and analyze data, generate
individual EIP (curriculum) with optimal training duration and to
generate training automatically. The system consists of hardware and
software where the software has been implemented using Java
language and Linux Fedora. The software has been tested to ensure the
functionality and reliability. The prototype has been also tested in
Down syndrome centers. Test result shows that the system is reliable
to be used for generation of an individual curriculum which includes
the training program to improve the motor, cognitive, and combination
abilities of Down syndrome children under 6 years.