Psiquiatria Clínica Acesso livre

Abstrato

From the Genesis of Down syndrome: What we know and what we still need to know

Abdul-rahmon Adewuyi Olagunju,Mustapha Akajewole Masud

Despite years of intensive studies on DS, the clinical importance and recent understanding between the syndrome and maternal age, paternal age, habitual and environmental risk factors are relatively identified. Studies indicated that the vast majority of errors leading to trisomy 21 are due to errors in the egg, as nearly 90% of cases involve an additional maternal chromosome. There are many cases that the maternal is not prone to these risk factors but still by chance give birth to a child with DS. However, this can be attributed to altered chromosomal recombination. Today, technology has helped in the diagnosis of this anomaly with the invention of next generation sequencing technologies which enabled testing of multiple disease genes simultaneously, ranging from targeted gene panels to Exome Sequencing (ES) and Genome Sequencing (GS). A growing number of studies demonstrate that GS can detect an unparalleled range of pathogenic abnormalities in a single laboratory workflow. GS has the potential to deliver unbiased, rapid and accurate molecular diagnoses to diagnose across diverse clinical indications and complex presentations but the prognosis of DS remains enigma. Most studies argued that pregnant women diagnosed of DS has the choice to either terminate or continue with the pregnancy, in which 90% usually terminate the pregnancy even before the general public notice. This shows there's still a lot to do on the prognosis. This review suggests ways with the invention of technology how this anomaly can be treated immediately after the diagnosis.