Prenatal diagnostics of Patau syndrome. Clinical case and literature review

Abstract

Summary. Patau syndrome is a rare and severe genetic disease caused by an extra copy of chromosome 13 (T13). Prevalence – 1 in 5,000 newborns, the majority of prenatally diagnosed cases of T13 die in utero. Patients are usually given only supportive treatment. Patau syndrome is often suspected when finding characteristic defects during an ultrasound scan and performing combined test or NIPT. This paper describes a clinical case in which combined test did not show any risk for chromosome abnormalities but NIPT results demonstrated high risk for T13. Furthermore, this paper includes literature review comparing combined test and NIPT.