Trisomy 13, also known as Patau syndrome, is a severe chromosomal condition characterized by the presence of an extra copy of all or part of chromosome 13
. This additional genetic material can cause multiple malformations and is associated with severe intellectual disability and physical abnormalities
. Babies with trisomy 13 often have heart defects, brain or spinal cord abnormalities, small or poorly developed eyes, extra fingers or toes, and a cleft lip or palate, among other features
. The condition is rare, occurring in about 1 in 10,000 to 1 in 16,000 births
. Most cases are not inherited and result from random events during the formation of reproductive cells
. Trisomy 13 can be diagnosed before birth by genetic testing such as amniocentesis
. The prognosis for infants with trisomy 13 is poor, with nearly 80% of affected babies not surviving past their first year
