A case of Edward syndrome with radius aplasia.
- Author:
Ha Kyong JOO
1
;
Yoon Hee PARK
;
Jee Hyun LEE
;
Hee Bong MOON
;
Sa Jin KIM
;
Chong Seung YI
;
Jong Chul SHIN
;
Soo Pyung KIM
Author Information
1. Department of Obstetrics and Gynecology, Catholic University Medical College, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Edward syndrome;
Radial Aplasia
- MeSH:
alpha-Fetoproteins;
Biomarkers;
Chorionic Gonadotropin;
Cytogenetics;
Down Syndrome;
Estriol;
Female;
Fetus;
Humans;
Live Birth;
Mass Screening;
Pregnancy;
Pregnancy Trimester, Second;
Radius*;
Trisomy;
Ultrasonography
- From:Korean Journal of Obstetrics and Gynecology
2001;44(10):1937-1940
- CountryRepublic of Korea
- Language:Korean
-
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.
