Q91: Edwards syndrome and Patau syndrome

Edwards syndrome and Patau syndrome are both serious genetic disorders caused by additional copies of certain chromosomes. In Edwards syndrome, also known as Trisomy 18, there is an extra copy of chromosome 18. Whereas Patau syndrome, also known as Trisomy 13, involves an extra copy of chromosome 13. These chromosomal abnormalities happen spontaneously during the formation of reproductive cells or in early embryonic development. Both conditions commonly result in severe intellectual disability and physical abnormalities such as heart defects, poorly developed eyes, abnormally shaped head, and small or abnormally formed ears. Most affected individuals do not survive the neonatal period due to severe complications. However, some individuals with these syndromes can survive into their teens and beyond, often requiring intensive medical care and support. These conditions are non-contagious, as they result from genetic anomalies rather than an infectious agent. They can be detected prenatally via specific genetic screening tests.