John C Carey1. 1. Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Utah 84108, USA. john.carey@hsc.utah.edu
Abstract
PURPOSE OF REVIEW: At the time of diagnosis of the trisomy 18 and trisomy 13, parents and care providers face difficult and challenging decisions regarding management. Because of the increased infant mortality and developmental outcome associated with both conditions, the conventional approach to management has been to withhold technological support. In recent years, an active dialogue on this topic has emerged. The purpose of this review is to summarize the literature on the outcome of infants with trisomy 18 and 13 and to discuss the key themes in this emerging dialogue. RECENT FINDINGS: In recent years, several important studies have appeared that have analyzed the issues relevant to this topic, including parental autonomy, best interest of the child standard, and quality of life. Some authorities state that in areas of ambiguity it is best to defer to parents' views, whereas others indicate concern that the best interest standard has given way to parental autonomy. Information on the actual experience of parents of children with trisomy 18 and 13 has been limited until recently. SUMMARY: The author recommends a balanced approach to counseling families of the newborn with trisomy 18 and 13 at the time of diagnosis. The counseling process should include presentation of accurate survival figures, avoidance of language that assumes outcome, communication of developmental outcome that does not presuppose perception of quality of life, and respect for the family's choice, whether it be comfort care or intervention.
PURPOSE OF REVIEW: At the time of diagnosis of the trisomy 18 and trisomy 13, parents and care providers face difficult and challenging decisions regarding management. Because of the increased infant mortality and developmental outcome associated with both conditions, the conventional approach to management has been to withhold technological support. In recent years, an active dialogue on this topic has emerged. The purpose of this review is to summarize the literature on the outcome of infants with trisomy 18 and 13 and to discuss the key themes in this emerging dialogue. RECENT FINDINGS: In recent years, several important studies have appeared that have analyzed the issues relevant to this topic, including parental autonomy, best interest of the child standard, and quality of life. Some authorities state that in areas of ambiguity it is best to defer to parents' views, whereas others indicate concern that the best interest standard has given way to parental autonomy. Information on the actual experience of parents of children with trisomy 18 and 13 has been limited until recently. SUMMARY: The author recommends a balanced approach to counseling families of the newborn with trisomy 18 and 13 at the time of diagnosis. The counseling process should include presentation of accurate survival figures, avoidance of language that assumes outcome, communication of developmental outcome that does not presuppose perception of quality of life, and respect for the family's choice, whether it be comfort care or intervention.
Authors: Robert E Meyer; Gang Liu; Suzanne M Gilboa; Mary K Ethen; Arthur S Aylsworth; Cynthia M Powell; Timothy J Flood; Cara T Mai; Ying Wang; Mark A Canfield Journal: Am J Med Genet A Date: 2015-12-10 Impact factor: 2.802
Authors: Nansi S Boghossian; Nellie I Hansen; Edward F Bell; Barbara J Stoll; Jeffrey C Murray; John C Carey; Ira Adams-Chapman; Seetha Shankaran; Michele C Walsh; Abbot R Laptook; Roger G Faix; Nancy S Newman; Ellen C Hale; Abhik Das; Leslie D Wilson; Angelita M Hensman; Cathy Grisby; Monica V Collins; Diana M Vasil; Joanne Finkle; Deanna Maffett; M Bethany Ball; Conra B Lacy; Rebecca Bara; Rosemary D Higgins Journal: Pediatrics Date: 2014-01-20 Impact factor: 7.124