A Case of Patau Syndrome Diagnosed in Antenatal Care / 대한산부인과학회잡지

Patau syndrome is the least common and most severe viable autosomal trisomy. First identified as a cytogenic syndrome in 1960, Patau syndrome is caused by extracopy of chromosome 13. It is characterized by holoprosencephaly, cleft lip, cleft palate, cyclopia, polydactyly, congenital heart disease, and intrauterine growth retardation. Because of severity of congenital defects, extremely short survival time is expected. The rare survivors have profound mental retardation and seizures. So life sustaining procedures are generally not attempted. We report a case of Patau syndrome, which was diagnosed by prenatal ultrasonography at 25 weeks gestational age.