Abstract
Management of children with trisomy 13 (T13) is controversial because of a paucity of evidence of the natural history, especially focusing on efficacy of treatment. There has been no report regarding natural history of children with T13 receiving intensive neonatal and pediatric treatment without cardiac surgery, although several reports have suggested efficacy of cardiac surgery. To describe the detailed and comprehensive natural history of children with T13 receiving intensive neonatal and pediatric treatment without cardiac surgery, we reviewed clinical information of 24 children with full T13 (15 boys, 9 girls) who were admitted to Nagano Children's Hospital from 1994 to 2016. Intensive neonatal and pediatric treatment without cardiac surgery was provided through careful discussion with the parents. We detailed accurate frequencies of complications, survival, underlying factors and the final modes of death, and psychomotor development of survivors. Unpublished complications including aortopulmonary window, pulmonary-ductus-descending aorta-trunk, biliary system abnormalities, eosinophilic enteritis, and neuroblastoma were described. Accurate frequencies of congenital heart defects (92%) and laryngomalacia and/or tracheomala...Continue Reading
References
Feb 1, 1978·Journal of Medical Genetics·M E HodesT Reed
Dec 1, 1988·Human Genetics·P MoermanJ Lauweryns
Dec 1, 1988·Clinical Genetics·H Goldstein, K G Nielsen
Sep 1, 1968·Journal of Medical Genetics·A I Taylor
Jan 15, 1994·American Journal of Medical Genetics·B J BatyJ C Carey
Oct 1, 1994·Archives of Disease in Childhood·J P WyllieS Hunter
Jan 15, 1994·American Journal of Medical Genetics·B J BatyJ C Carey
Oct 1, 1993·American Journal of Medical Genetics·S R BraddockM C Jones
Sep 3, 2002·Journal of Medical Genetics·C M BrewerD R FitzPatrick
Apr 3, 2003·Pediatrics·Sonja A RasmussenJ M Friedman
Mar 17, 2004·The American Journal of Cardiology·Eric M GrahamUNKNOWN Pediatric Cardiac Care Consortium
Mar 11, 2006·American Journal of Medical Genetics. Part a·Tomoki KoshoYoshimitsu Fukushima
May 30, 2007·Pediatrics International : Official Journal of the Japan Pediatric Society·Hsiang-Yu LinWai-Tao Chan
Apr 17, 2008·American Journal of Medical Genetics. Part a·Yukihiro KanekoTadashi Kawakami
Oct 13, 2011·American Journal of Medical Genetics. Part a·Jun MaedaToshio Nakanishi
Apr 11, 2012·Cell Biochemistry and Biophysics·Keiko TsukadaOsamu Arisaka
Jul 25, 2012·Pediatrics·Annie JanvierBenjamin S Wilfond
Oct 10, 2012·Current Opinion in Pediatrics·John C Carey
Dec 22, 2012·Augmentative and Alternative Communication : AAC·Barbara BraddockJohn C Carey
Apr 25, 2013·American Journal of Medical Genetics. Part a·Patrícia PetryRafael F M Rosa
Nov 5, 2013·Developmental Neurorehabilitation·C A LiangJ C Carey
Nov 12, 2013·American Journal of Medical Genetics. Part a·Janaina B PolliRafael F M Rosa
Dec 7, 2013·American Journal of Medical Genetics. Part a·Eriko NishiTomoki Kosho
Dec 15, 2015·American Journal of Medical Genetics. Part a·Robert E MeyerUNKNOWN National Birth Defects Prevention Network
Jul 28, 2016·JAMA : the Journal of the American Medical Association·Katherine E NelsonAstrid Guttmann
Aug 16, 2016·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Martin J McCaffrey
Aug 25, 2016·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Sasha E AndrewsPeter Hulac
Apr 24, 2018·American Journal of Medical Genetics. Part a·Soichi ShibuyaTomoki Kosho
Citations
Jan 26, 2020·Congenital Anomalies·Mizuki YaginumaTomonobu Hasegawa
Sep 19, 2020·Journal of Human Genetics·Hidenori KawasakiUNKNOWN Neonatal Research Network of Japan
Nov 20, 2020·Cardiology in the Young·Meaghann S WeaverAnnie Janvier
Jan 1, 2021·American Journal of Medical Genetics. Part a·Meaghann S WeaverNicole D Birge
Mar 13, 2021·American Journal of Medical Genetics. Part a·Jeffrey W KeppleEric S Peeples
Sep 29, 2020·The Journal of Thoracic and Cardiovascular Surgery·Sara K SwansonJeffrey D Zampi