For parents of infants newly diagnosed with Trisomy 18 or 13 The Need for Information at Diagnosis For parents facing decision-making following a prenatal diagnosis or diagnosis following the birth of a son or daughter with trisomy 18 or trisomy 13, information is essential, if informed decisions are to be made. Parents are being asked…

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PROFESSIONAL VIEWPOINT:  JOURNAL CLUB Reprinted from the SOFT Times, May/Jun/Jul 2011. Janvier A, Okah F, Farlow B, Lantos JD.  2011.  Ethical Rounds:  An infant with trisomy 18 and a ventricular septal defect.  Pediatrics 127:754-759. When I received my personal copy of the April issue of Pediatrics, my eyes immediately went to the Special Article on…

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PROFESSIONAL VIEWPOINT:  Journal Club All of us at SOFT and the trisomy 18 community worldwide were saddened by the news of the two hospitalizations of Bella Santorum, daughter of Republican Presidential candidate, Rick Santorum, that appeared in various media sources in 2012.  Most of these stories mentioned or made reference to trisomy 18.  One of…

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Presentation From the 2010 SOFT Conference in Sioux Falls Presenters: Terry Peterson-Henry, D. O. Pediatric Palliative Care and Ellie Schellinger, MA. Medical Ethicist Medicine, although it is grounded in the scientific method and dependent on changing technologies is, nevertheless, also both personal and intimate. Ethics is the discipline that systematically analyzes and rationally justifies the…

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New Molecular Diagnostic Methods in Genetics Workshop Presentation From the 2010 SOFT Conference in Sioux Falls Presenter: Patricia Crotwell, Ph.D. There have been advances in genetic testing in which small deletions that the microscope through previous methods could not pick up are now detected. An important advance is a matrix which has 2.7 MSNP, microsnips…

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The Nature of Hope: A Live Interview with the Family of Little Erin Workshop Presentation From the 2010 SOFT Conference in Sioux Falls Presenter: Dr. Lawrence Fenton, M.D Dr. Fenton emphasized that each patient is ill in his or her own way. Physicians and others must remember that underneath the joyous times is bereavement, loss,…

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From the 2011 Chicago SOFT Conference This workshop, presented by Larry W. Desch, MD, FAAP Advocate: Hope Children’s Hospital focuses on the need for special needs children to have a Medical Home. Children with Special Health Care Needs There are children with special health care needs, who are at an increased risk for or who…

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Workshop Presentation from the 2011 SOFT Conference in Chicago Presenters: Dr. John Carey and Dr. Jeannette Israel This genetic syndrome overview workshop was presented by Dr. Carey and Dr. Israel, with Dr. Carey presenting some quick genetics of chromosomes, then covering the basics of trisomy 18. Dr. Israel focused on trisomy 13, including translocations, and…

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PROFESSIONAL VIEWPOINT:  Journal Club IRVING C., RICHMOND S, WREN C, LONGSTER C, AND EMBLETON ND.  2011.  CHANGES IN PREVALENCE AND OUTCOME FOR TRISOMIES 13 AND 18:  A POPULATION-BASED STUDY OVER 23 YEARS.  JOURNAL OF MATERNAL-FETAL AND NEONATAL MEDICINE 24:137-141. CRIDER KS, OLNEY RS, CRAGAN JD.  2008.  TRISOMIES 13 AND 18:  POPULATION PREVALENCES, CHARACTERISTICS, AND PRENATAL DIAGNOSIS, METROPOLITAN ATLANTA,…

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PROFESSIONAL VIEWPOINT:  Journal Club KANEKO Y, KOBAYASHI J, IKUYA I, ET AL. 2009. CARDIAC SURGERY IN PATIENTS WITH TRISOMY 18. PEDIATR CARDIOL 30:729-734. This work, accomplished by a group at the Japanese Red Cross Medical Center in Tokyo, Japan led by the first author (a cardiovascular surgeon), summarizes the outcomes of cardiac surgery in 17 infants with…

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