Jornal da Síndrome de Down e Anormalidades Cromossômicas
Acesso livre

Abstrato

Challenges and Future Perspectives of Down Syndrome and Chromosomal Abnormalities

Baojin Ding

Down syndrome comes with birth defect and it is also comes with huge social and medical cost. This genetic disease is most prevalent and common genetic of disabilities in new born.

Albeit the syndrome had been described thousands of years afore, it was designated after John Langdon Down who described its clinical description in 1866.

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. 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.