Survival of Patients with Trisomy 18 Based on the Treatment Policy at a Single Center in Korea

Nam, Soon Young; Ahn, So Yoon; Chun, Ji Young; Yoon, Shin Ae; Park, Ga Young; Choi, Soo Young; Sung, Se In; Yoo, Hye Soo; Chang, Yun Sil; Park, Won Soon

Abstract

PURPOSE
Although discussion about active treatment of trisomy 18 is increasing, there are no previous articles regarding this subject in Korea. In order to provide objective data about the clinical characteristics and survival of patients with trisomy 18, based on the treatment policy, to medical teams and parents with trisomy 18, we reviewed the medical records of such patients at a single center in Korea.
METHODS
This is a retrospective study of 22 patients diagnosed with trisomy 18 at the Samsung Medical Center between 1995 and 2013. We collected data about the clinical characteristics, including demographics, birth history, diagnosis method, and associated anomalies. We analyzed the survival in days, according to three broad categories of treatment policy: give-up, conservative management and active treatment.
RESULTS
Of the 22 patients with confirmed trisomy 18, the majority were female (19, 86%). The median gestational age was 39 weeks (range, 31-41 weeks) and the median birth weight is 2,029 g (range, 1,130-2,990 g). Among the anomalies associated with trisomy 18, ventricular septal defect (86%) and patent ductus arteriosus (81%) were the most common cardiac anomalies; giant cisterna magna (59%) was the most common central nervous system anomaly; and clenched hands (73%) and low set ears (59%) were the most common structural anomalies. The survival based on the treatment policy was the highest in the active treatment group, followed by the conservative management group. The give-up group had the lowest survival.
CONCLUSION
It is possible to achieve an improvement in both survival and symptom relief for patients with trisomy 18, despite poor neurological outcome and high mortality. Medical personnel need to provide objective data on trisomy 18 to the parents, and determine the treatment policy through careful discussion.