Survival of Patients with Trisomy 18 Based on the Treatment Policy at a Single Center in Korea
1
조회
0
다운로드
1
인용
0
참고문헌
키워드
초록
Purpose: Although discussion about active treatment of trisomy 18 is increasing,there are no previous articles regarding this subject in Korea. In order to provideobjective data about the clinical characteristics and survival of patients with trisomy18, based on the treatment policy, to medical teams and parents with trisomy 18, wereviewed 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 theSamsung Medical Center between 1995 and 2013. We collected data about the clinicalcharacteristics, including demographics, birth history, diagnosis method, and associatedanomalies. We analyzed the survival in days, according to three broad categoriesof 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 medianbirth weight is 2,029 g (range, 1,130–2,990 g). Among the anomalies associated withtrisomy 18, ventricular septal defect (86%) and patent ductus arteriosus (81%) werethe most common cardiac anomalies; giant cisterna magna (59%) was the mostcommon central nervous system anomaly; and clenched hands (73%) and low setears (59%) were the most common structural anomalies. The survival based on thetreatment policy was the highest in the active treatment group, followed by theconservative management group. The give-up group had the lowest survival. Conclusion: It is possible to achieve an improvement in both survival and symptomrelief for patients with trisomy 18, despite poor neurological outcome and highmortality. Medical personnel need to provide objective data on trisomy 18 to theparents, and determine the treatment policy through careful discussion.
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 provideobjective data about the clinical characteristics and survival of patients with trisomy18, based on the treatment policy, to medical teams and parents with trisomy 18, wereviewed 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 theSamsung Medical Center between 1995 and 2013. We collected data about the clinicalcharacteristics, including demographics, birth history, diagnosis method, and associatedanomalies. We analyzed the survival in days, according to three broad categoriesof 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 medianbirth weight is 2,029 g (range, 1,130–2,990 g). Among the anomalies associated withtrisomy 18, ventricular septal defect (86%) and patent ductus arteriosus (81%) werethe most common cardiac anomalies; giant cisterna magna (59%) was the mostcommon central nervous system anomaly; and clenched hands (73%) and low setears (59%) were the most common structural anomalies. The survival based on thetreatment policy was the highest in the active treatment group, followed by theconservative management group. The give-up group had the lowest survival. Conclusion: It is possible to achieve an improvement in both survival and symptomrelief for patients with trisomy 18, despite poor neurological outcome and highmortality. Medical personnel need to provide objective data on trisomy 18 to theparents, and determine the treatment policy through careful discussion.
참고문헌 (32)
- Goc B, "Trisomy 18 in neonates: prenatal diagnosis, clinical features, therapeutic dilemmas and outcome", J Appl Genet, 47, pp.165~170 (2006)
- Niedrist D, "Survival with trisomy 18--data from Switzerland", Am J Med Genet A, 140, pp.952~959 (2006)
- Jones KL, "Smith's recognizable patterns of human malformation", pp.16~19 (1988), Saunders
- Jones KL, "Smith's recognizable patterns of human malformation", pp.14~15 (1997), Saunders
- Jones KL, "Smith's recognizable patterns of human malformation", pp.13~17 (2006), Saunders
- Jones KL, "Smith's recognizable patterns of human malformation", pp.14~16 (2013), Saunders
- Thiel M, "Clinical courses of trisomy 18(Edwards syndrome) - an update", Z Geburtshilfe Neonatol, 215, pp.109~114 (2011)
- Lorenz JM, "Evolving medical and surgical management of infants with trisomy 18", Curr Opin Pediatr, 26, pp.169~176 (2014)
- Catlin A, "Trisomy 18 and choices", Adv Neonatal Care, 10, pp.32~ (2010)
- Hsiao CC, "Changing clinical presentations and survival pattern in trisomy 18", Pediatr Neonatol, 50, pp.147~151 (2009)
- Kaneko Y, "Cardiac surgery in patients with trisomy 18", Pediatr Cardiol, 30, pp.729~734 (2009)
- Imataka G, "Survival of trisomy 18 cases in Japan", Genet Couns, 18, pp.303~308 (2007)
- Kosho T, "Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group", Am J Med Genet A, 161, pp.1531~1542 (2013)
- Toker A, "Trisomy 18: how far should we go", Isr Med Assoc J, 14, pp.515~517 (2012)
- Cereda A, "The trisomy 18 syndrome", Orphanet J Rare Dis, 7, pp.81~ (2012)
- Baty BJ, "Natural history of trisomy 18and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk", Am J Med Genet, 49, pp.175~188 (1994)
- Weber WW, "Survival and the sex ratio in trisomy 17-18", Am J Hum Genet, 19, pp.369~377 (1967)
- Carter PE, "Survival in trisomy 18. Life tables for use in genetic counselling and clinical paediatrics", Clin Genet, 27, pp.59~61 (1985)
- Young ID, "Changing demography of trisomy18", Arch Dis Child, 61, pp.1035~1036 (1986)
- Brewer CM, "Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers", J Med Genet, 39, pp.e54~ (2002)
- McGraw MP, "Attitudes of neonatologists toward delivery room management of confirmed trisomy 18: potential factors influencing a changing dynamic", Pediatrics, 121, pp.1106~1110 (2008)
- Kosho T, "Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment", Am J Med Genet A, 140, pp.937~944 (2006)
- Bruns D, "Twenty-two survivors over the age of 1year with full trisomy 18: presenting and current medical conditions", Am J Med Genet A, 164, pp.610~619 (2014)
- Courtwright AM, "Length of life and treatment intensity in infants diagnosed prenatally or postnatally with congenital anomalies considered to be lethal", J Perinatol, 31, pp.387~391 (2011)
- Petek E, "Characterisation of a 19-year-old "long-term survivor" with Edwards syndrome", Genet Couns, 14, pp.239~244 (2003)
- Smith A, "Trisomy 18 in an 11 year old girl", J Ment Defic Res, 22, pp.277~286 (1978)
- Kelly M, "Trisomy 18 in a 20-year-old woman", Am J Med Genet, 112, pp.397~399 (2002)
- Shanske AL, "Trisomy 18 in a second 20-year-old woman", Am J Med Genet A, 140, pp.966~967 (2006)
- Lebel RR, "Regarding trisomy 18", Am J Med Genet A, 140, pp.964~965 (2006)
- 정성훈, "한국 신생아역학 최근 30년간의 변화", Neonatal medicine, 20(3), pp.247~255 (2013), 대한신생아학회
- Muneuchi J, "Outcomes of cardiac surgery in trisomy 18 patients", Cardiol Young, 21, pp.209~215 (2011)
- Yates AR, "Pediatric sub-specialist controversies in the treatment of congenital heart disease in trisomy 13 or 18", J Genet Couns, 20, pp.495~509 (2011)