Proteomic techniques for finding biomarkers for prenatal screening for Down syndrome: where are we?

摘要

Down syndrome (DS), also named Trisomy 21, is a common chromosomal disorder characterized by an extra chromosome 21. The disorder is associated with several complex clinical phenotypes, such as mental retardation, cardiovascular diseases, infections, leukemia and endocrine alterations. As it has no effective treatment after birth, prenatal screening and prenatal diagnosis is the only way to avoid bearing a DS baby. In the past 25 years, prenatal screening for DS has been widely used in pregnant women all over the world. Nowadays, pregnant women can choose screening in a second trimester, a first trimester or integrated screening.