¡World Down Syndrome Day!
Advances in treatment and improvements in early diagnosis
March 21 2025
In December 2011, the United Nations General Assembly designated March 21 as World Down Syndrome Day. The UN sought to raise greater public awareness of the issue and to remember the inherent dignity, worth, and invaluable contributions of people with intellectual disabilities as promoters of the well-being and diversity of their communities.
Most cases of this syndrome occur in young women.
It should be noted that first and second trimester screening tests fail to detect between
5 and 20% of Down syndrome cases.
Advances in Early Diagnosis
The use of machine learning (ML) in biomarker analysis to predict Down syndrome improves diagnostic accuracy and enables early detection. Advances show that the integration of maternal serum markers, nuchal translucency measurements, and ultrasound images with algorithms increases detection rates to over 85% while keeping false positive rates low.
Advances in Future Treatment
Down syndrome occurs due to the presence of an extra chromosome 21 and is the most common genetic cause of cognitive disability. Although tests exist to detect it before birth, there is little research on how to eliminate the extra chromosome in affected cells.
Scientific researchers, such as Dr. Ryotaro Hashizume, and a group of other Japanese scientists, recently published that the CRISPR-Cas9 technique can eliminate the extra chromosome in cells with trisomy 21. Unlike other methods that do not distinguish between genetic variants, a more precise strategy was used here to target only the extra chromosome.