A case of the Patau syndrome diagnosed in second trimester.

Kang, Gyu Hyun; Yoon, Sung Joon

Case Report

Korean Journal of Obstetrics & Gynecology 2001;44(1):184-188.
Published online January 1, 2001.

A case of the Patau syndrome diagnosed in second trimester.

Gyu Hyun Kang, Sung Joon Yoon

Department of Obstetrics & Gynecology, College of Medicine, Chung-Ang University, Seoul, Korea.

Abstract

Patau syndrome is trisomy 13, one of the abnormalities of chromosomal structure and, is relatively common with Down syndrome and Edward syndrome. Also it is associated with intrauterine growth retardation, holoprosencephaly, cyclopia, cleft lip, cleft palate, ventricular septal defect, atrial septal defect, extremity abnormalities, and renal malformations. Because early death is typical with 50% of infants with trisomy 13 dying within 1 month and only 18% surviving more than 1 year, prevention through genetic counseling may be important for subsequent pregnancy. We present one case of trisomy 13 with abnormal ultrasound finding of holoprosencephaly, cyclopia, micrognathia, ventricular septal defect, atrial septal defect, and intrauterine growth retardation. And confirmed chromosomally with pregnancy termination.

Key Words: Patau syndrome, Abnormal ultrasound finding