[tri-med] FYI: Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985 -- 2004.

Clinical characteristics and survival of trisomy 13 in a medical center in 
Taiwan, 1985 -- 2004.
Author: Lin HY | Lin SP | Chen YJ | Hsu CH | Kao HA

Source: Pediatrics International. 2007 Jun;49(3):380-386. 

Abstract: This study investigated the survival and natural history of trisomy 
13 in a series of patients, comparing the management and outcome before and 
after the implementation of Taiwan's National Health Insurance program (NHI). A 
total of 28 cases of trisomy 13 seen at Mackay Memorial Hospital, Taipei, 
Taiwan, from 1985 to 2004 were retrospectively reviewed. Survival and 
management before (12 cases) and after (16 cases) the implementation of 
National Health Insurance were compared, and structural defects, imaging 
findings, and cytogenetic results were analyzed. The cases that were diagnosed 
prenatally, and finally terminated, were excluded from this study. The 
diagnosis of trisomy 13 was based on the postnatal chromosome analysis. All 
patients except one with trisomy 13 translocation died in their first year 
because of severe malformations of the cardiovascular or central nervous 
system. The median survival was 9 days. After implementation of National Health 
Insurance, survival with trisomy 13 was significantly longer than before (P < 
0.05). The three most common structural defects were abnormal auricular helices 
or low-set ears (89%), cryptorchidism and abnormal scrotum of male (73%) and 
cleft lip and/or palate (71%). Using echocardiography, the most commonly 
detected heart defects were patent ductus arteriosus (68%), ventricular septal 
defect (50%) and atrial septal defect (50%), and eight cases (36%) had complex 
congenital heart defects. The most common brain lesion was lenticulostriate 
vasculopathy (22%), followed by holoprosencephaly (17%), brain edema (13%) and 
subependymal cyst (13%). Early diagnosis and the survival patterns from the 
data collected should be used to inform parents and health-care professionals 
to assist in decision making. Although most patients with trisomy 13 die within 
the first weeks after birth, it is important to recognize that a few may 
survive the first year. When counseling families, the long-term survival 
prospects of trisomy 13 patients should be included. (author's)

Region: Asia Subregion: Asia, Eastern Country: Taiwan 

Language: English

Item ID: 317211

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