A Detailed Insight into Down’s Syndrome
DOI:
https://doi.org/10.48047/Keywords:
Down syndrome, trisomy 21, prenatal diagnosis, chromosome abnormality, cell-free fetal DNA (cffDNA); noninvasive prenatal screening (NIPS)Abstract
Down syndrome (DS) is a birth defect with significant medical and social costs that is caused by trisomy of all or
part of chromosome 21. It is the most common genetic disease in the world and the most common genetic cause of
intellectual disabilities, affecting approximately 1 in 400-1500 newborns. Despite the fact that the syndrome had
been described thousands of years before, it was named after John Langdon Down, who described it clinically in
1866. Scientists have discovered candidate genes that play a role in the development of specific DS features. These
advancements, in turn, may aid in the development of targeted therapy for people with trisomy 21. Screening for
Down syndrome is an essential part of routine prenatal care. Until recently, noninvasive screening for aneuploidy
relied on maternal serum analytes and ultrasonography. Recent advancements have resulted in the development of a
noninvasive prenatal screening (NIPS) test that uses cell-free foetal DNA sequences isolated from a maternal blood
sample. There is a discussion of those accomplishments
