Congenital Birth Defects: Down Syndrome

Abstract

The congenital birth defect Down syndrome is brought up by an additional set of the 21 chromosome, this influences human advancement from several points of view, including causing neurological issues and hindered development. Throughout this essay, I will discuss the causes for the manner of development for Down syndrome. I will also include the occurrence rate of this congenital birth defect and prenatal screening.

Causes

Down syndrome, also known as trisomy 21 is when someone has three copies of chromosome 21. Roughly 95% of cases result from nondisjunction and resultant standard trisomy 21.The remaining 5% are equally part between Robertsonian translocations. Woman over the age of 35 is the absolute most significant determinant of nondisjunction trisomy 21, and atomic systems have exhibited that 85-90% of cases result from maternal age and 5-10% from fatherly, meiotic mistakes.

Incidence

Down syndrome is one of the most common patterns of human malformation as well as one of the most common congenital abnormalities at birth. The commonness of Down Syndrome which falls under congenital birth defects, is mostly found in women at the age of 35 or more at the time of delivery. The occurrence of this congenital birth defect is not necessarily found by the variety of ethnic and racial groups but more on maternal age structure. Statistics show that rates run up drastically the older you get.

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Prenatal Screening

Throughout the years we have had cases where prenatal testing can be invasive. Though now their has been a new non-intrusive prenatal form of testing. This new form of testing utilizes sans cell fetal DNA in maternal blood which can in fact give benefits because of its higher affectability and particularity in contrast with ordinary screening tests. With the tests being improved, this helps non invasive prenatal testing to greatly reduce the number of false positives thus reduces the procedure of fetal loss which in facts relieves plenty of women in situations with false positives.

References

1. El Kateb, A. Y., & Ville, Y. (2008). Screening for Down syndrome: current strategies and future prospects. Expert Review of Obstetrics & Gynecology, 3(3), 403+. Retrieved from https://link.gale.com/apps/doc/A223302923/AONE?u=j108904&sid=AONE&xid=1b3a547e
2. Zhang, W., Mohammadi, T., Sou, J., & Anis, A. H. (2019). Cost-effectiveness of prenatal screening and diagnostic strategies for Down syndrome: A microsimulation modeling analysis. PLoS ONE, 14(12), e0225281. Retrieved from https://link.gale.com/apps/doc/A607540208/AONE?u=j108904&sid=AONE&xid=efac0778