A case of Edward syndrome with radius aplasia.

Joo, Ha Kyong; Park, Yoon Hee; Lee, Jee Hyun; Moon, Hee Bong; Kim, Sa Jin; Yi, Chong Seung; Shin, Jong Chul; Kim, Soo Pyung

Case Report

Korean Journal of Obstetrics & Gynecology 2001;44(10):1937-1940.
Published online October 1, 2001.

A case of Edward syndrome with radius aplasia.

Ha Kyong Joo, Yoon Hee Park, Jee Hyun Lee, Hee Bong Moon, Sa Jin Kim, Chong Seung Yi, Jong Chul Shin, Soo Pyung Kim

Department of Obstetrics and Gynecology, Catholic University Medical College, Seoul, Korea.

Abstract

Trisomy 18 is the second most common chromosomal anomaly that reach to live birth after Down syndrome. Several methods were proposed to screen patients on the risk of Edward syndrome like maternal serum levels using total human chorionic gonadotropin (hCG), alpha-fetoprotein (AFP) and unconjugated estriol (uE3), or free beta hCG with AFP, but the serum screening has only 50-60% detection rate with a 1-2% of false positive rate. So to cover the limitations that serum marker has, detailed ultrasound examination is also necessary and sensitivities of 65-70% were reported. We report a case of trisomy 18 fetus in which second trimester triple markers of maternal serum was normal, but by detailed ultrasound examination, unilateral radius aplasia was diagnosed cytogenetic study confirmed the fetus as trisomy 18.

Key Words: Edward syndrome, Radial Aplasia