Patau syndrome (Trizomi 13): a case report

Abstract

Trisomy 13, or Patau syndrome, is the third most common autosomal trisomy chromosome disorder after trisomy 21 (Down syndrome) and trisomy 18 (Edwards syndrome). Lifetime of affected fetuses is short due to this chromosome abnormality. The rate of associated symptoms may vary from case to case. However, the majority of affected fetuses have skull and face abnormalities; heart, kidney, gastrointestinal malformations; and/or other physical abnormalities. In this study, we report a case who was referred to our hospital’s gynecology and obstetrics polyclinic with 20-week pregnancy and who was performed amniocentesis due to detection of high trisomy risk in quad screen test, which revealed 47, XY, +13 karyotype in the fetus. As a result of detailed ultrasound imaging, lobar prosencephaly + cleft lip and palate, congenital heart disease and left ventricular hypoplasia, pelvicaliectasy in both kidneys, and polydactyly in both hands and feet were detected in the fetus. Pregnancy was terminated vaginally with misoprostol induction. We recommended the family to obtain prenatal diagnosis for any future pregnancies.