TY - JOUR JF - ijmcmed JO - Int J Mol Cell Med VL - 5 IS - 3 PY - 2016 Y1 - 2016/7/01 TI - Down Syndrome: Current Status, Challenges and Future Perspectives TT - N2 - Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described its clinical description in 1866. Scientists have identified candidate genes that are involved in the formation of specific DS features. These advances in turn may help to develop targeted therapy for persons with trisomy 21. Screening for DS is an important part of routine prenatal care. Until recently, noninvasive screening for aneuploidy depends on the measurement of maternal serum analytes and ultrasonography. More recent progress has resulted in the development of noninvasive prenatal screening (NIPS) test using cell-free fetal DNA sequences isolated from a maternal blood sample. A review on those achievements is discussed. SP - 125 EP - 133 AU - Kazemi, Mohammad AU - Salehi, Mansoor AU - Kheirolahi, Majid AD - Medical Genetic Center of Genome, Isfahan, Iran. KW - Down syndrome KW - trisomy 21 KW - prenatal diagnosis KW - chromosome abnormality KW - cell-free fetal DNA (cffDNA) KW - noninvasive prenatal screening (NIPS) UR - http://ijmcmed.org/article-1-518-en.html DO - 10.22088/acadpub.BUMS.5.3.125 ER -