Several tests are done during pregnancy to monitor maternal and foetal wellbeing. Basically, marker tests are done in order to examine congenital and genetic defects in the growing foetus. Generally, these tests are done to monitor if the foetus is suffering from Down’s syndrome, a chromosomal abnormality which affects both the physiological and psychological development of the child. Dual marker test is a screening or a blood test done at the time of first trimester between the 11th and 13th week of pregnancy. A dual marker test is done together with a NT scan (Nuchal translucency scan). The blood test measures two marker such as PAPP-A (pregnancy-associated plasma protein) and hCG (human chorionic gonadotrophin), while the NT scan measures the fluid under the skin at the back of the baby’s neck. The results of both these tests are examine to check if a child suffers from Down’s syndrome. In case, of a risk of Down’s syndrome, the reports indicates abnormal levels of hCG and PAPP-A and a higher NT scan value. Depending on the results, the expectant mother either falls in ‘screen positive or high risk’ or ‘screen negative or low risk’ category. The quad marker screening test (quad screen) is a blood test administered in pregnancy, ideally during the 15th to 20th weeks of gestation. Similar to the triple screen, the quad marker screen provides information about risk for certain birth defects in the baby. In this test four markers in the blood are measured such as Alpha-fetoprotein (AFP) is produced by the liver of the fetus, HCG is a hormone produced by the placenta, Estriol is an estrogen produced by both placenta and the liver of the fetus and Inhibin-A is another hormone made by the placenta.
Worldwide, the estimated incidence of Down syndrome is between 1 in 1,000 to 1 in 1,100 live births. Every year approximately 3,000 to 5,000 children are born with this chromosome disorder. In the United States, it is estimated that around 6000 babies are born with Down syndrome. According to world health organization around 60 to 80 % of children with Down syndrome have hearing deficits. 40 to 45 % accounts for congenital heart disease. Intestinal abnormalities also occur at a higher level in children with Down syndrome. Some children with Down syndrome, specifically with severe heart disease often fail to thrive in infancy.
Management for Down syndrome
There is no medical cure for Down syndrome. Although, children with Down syndrome would benefit from early medical aid and developmental interventions beginning in the time of infancy. Children with Down syndrome may get advantage from physical therapy, speech therapy, and occupational therapy. They may receive special education and support in school.
Usage of stem cells for Down syndrome
Umbilical Cord blood (UCB) is rich source for stem cells which are genetically unique. It contains stem cells of blood, immune cells and limited amount of mesenchymal cells which are majorly used for the research for example: how to induce regeneration in various neurological disorders, such as also Down’s syndrome. New studies have demonstrated that mesenchymal and CD34 stem cells from UCB together with grow factor, neurotropic and antioxidant supplements, and stem cell nutrition provide the potential to increase brain tissue development and inhibit the formation of the abnormal protein which interferes with such development. Patients with Down syndrome had already been treated with cord driven stem cell therapy before the age of fifteen. The results concluded that there is a statistically significant improvement physical and mental characteristics. The typical features of Down syndrome become less pronounced and the immunological deficiencies are corrected, when treatment is applied earlier. Umbilical cord blood stem cell holds promise for minimizing some of the symptoms of Down syndrome. This is a new, inspiring frontier for human umbilical cord blood (hUCB) stem cells. Additionally,several studies discussed the outcome of hematopoietic stem cell transplantation in Down syndrome. Meissner et al, reported improvement in Treatment related mortality (TRM), with a day100 mortality of 18% in children with Down syndrome who underwent hematopoietic stem cell transplantation (HSCT). The authors suggested that the decrease in TRM may be related improved supportive care and advances in HLA (Human leukocyte antigen) typing. In conclusion, many studies are under clinical trials to evaluate efficacy and the role of hematopoietic stem cell transplantation (HSCT) in Down syndrome.