Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004.
BACKGROUND
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).


METHODS
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.


RESULTS
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%).


CONCLUSIONS
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.
Lin
Hsiang-Yu
HY
Department of Pediatrics, Mackay Memorial Hospital, and Mackay Medicine, Nursing and Management College, Taipei, Taiwan.
Lin
Shuan-Pei
SP
Chen
Yen-Jiun
YJ
Hsu
Chyong-Hsin
CH
Kao
Hsin-An
HA
Chen
Ming-Ren
MR
Hung
Han-Yang
HY
Ho
Che-Sheng
CS
Chang
Jui-Hsing
JH
Huang
Fu-Yuan
FY
Tsai
Tsuen-Chiuan
TC
Lin
Dar-Shong
DS
Chan
Wai-Tao
WT
D000328:Adult; D025063:Chromosome Disorders / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D002882:Chromosomes, Human, Pair 13; D020732:Cytogenetic Analysis / Q000379:methods; D003937:Diagnosis, Differential; D003952:Diagnostic Imaging / Q000379:methods; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009017:Morbidity / Q000639:trends; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011379:Prognosis; D012189:Retrospective Studies; D015996:Survival Rate / Q000639:trends; D013624:Taiwan / Q000453:epidemiology; D013997:Time Factors; D014314:Trisomy / Q000235:genetics*