Which syndrome is most commonly diagnosed as aneuploidy in live births?

Down Syndrome is the most commonly diagnosed form of aneuploidy in live births. This condition, also known as Trisomy 21, occurs when there is an extra copy of chromosome 21 present in an individual's cells. The increased incidence of Down Syndrome can be attributed to chromosomal nondisjunction during the formation of reproductive cells, leading to the characteristic genetic profile.

In populations, the prevalence of Down Syndrome is higher compared to other aneuploidies listed. The detection and diagnosis of Down Syndrome are facilitated by various prenatal screening and diagnostic tests, making it more recognizable at birth. Healthcare providers often monitor for signs associated with Down Syndrome, such as specific physical features and developmental challenges, which contribute to its higher rates of diagnosis compared to conditions like Patau Syndrome or Turner Syndrome.

Although Klinefelter and Turner Syndromes are also forms of aneuploidy, they are less frequently diagnosed in live births. Turner Syndrome, for example, can result in non-viable pregnancies, leading to a lower frequency in live births. Patau Syndrome, characterized by Trisomy 13, is associated with severe intellectual disability and a higher rate of miscarriage, further reducing its prevalence among live-born children.

These dynamics highlight how