SOFT Welcomes Medical Professionals
Welcome to the SOFT (Support Organization for Trisomy 18, 13, and Related Disorders) page for health professionals. SOFT is a network of families and professionals dedicated to providing support and understanding to families involved in the issues surrounding trisomy 18, 13 and related disorders. Support is provided during prenatal diagnosis, the child’s life and after a child’s passing. SOFT is committed to the idea of shared decision-making among the physician, other professionals, and family.
We have been closely involved with SOFT for many years.
Growth Charts, Surgeries & Literature
Children with trisomy 18 or 13 do not follow the standard infant and child growth patterns. These children are smaller at birth and grow more slowly than other children, especially those with trisomy 18. SOFT provides the only known Growth Curves for trisomy 18 and 13 and we suggest they be downloaded for use with affected children.
Reports of over 3,000 parent-reported surgeries or procedures have been collected into a Surgery Registry and compiled into surgery tables made available on this website.
SOFT's surgery registry is helpful for families seeking another family whose child experienced the same surgery or for finding a trisomy-friendly surgeon. A number of researchers have utilized the surgery registry's data for SOFT-approved studies.
Slowly but surely, during three decades of existence, SOFT has compiled a substantial library of professional literature about trisomy 18 and 13 which we are delighted to share with you below!
Professional Literature: Click a left column subject area, below, to bring up a list of related, peer-reviewed articles.
Professional Literature – Cardiac Surgery: Ethics and Management
Weaver, MS, et al, 2018 Eliciting Narratives to Inform Care for Infants with Trisomy 18
Pediatrics, October 2018, Volume 142/Issue 4, Family Partnerships
Domingo, L, Carey, JC, et al, 2018 Mortality and Resource Use Following Cardiac Interventions in Children with Trisomy 13 and Trisomy 18 and Congenital Heart Disease
Pediatr Cardiol (2018). https://doi.org/10.1007/s00246-018-2001-x
Kosiv, KA, et al, 2017 Congenital Heart Surgery on in-Hospital Mortality in Trisomy 13 and 18
Pediatrics, November 2017, Volume 140/Issue 5
Peterson, JK, et al, 2017 Long-term Outcomes of Children with Trisomy 13 and 18 After Congenital Heart Disease Interventions. Ann Thorac Surg. 2017 Apr 26. pii: S0003-4975(17)30375-2. doi: 10.1016/j.athoracsur.2017.02.068. [Epub ahead of print]
Costello, JP, et al, 2015, A Contemporary, Single-Institutional Experience of Surgical Versus Expectant Management of Congenital Heart Disease in Trisomy 13 and 18 Patients Pediatr Cardiol. 2015 Jan 23. [Epub ahead of print]
Lorenz, et al, 2013 Evolving Medical and Surgical Management of Infants with Trisomy 18
Carey JC 2011. Analysis of Kaneko Y et al 2009 Cardiac Surgery in Patients with Trisomy 18
Pediatr Cardiol 30:729-734. SOFT Times Nov/Dec/Jan 2010-11
Yates AR et al 2011. Pediatric sub-specialist controversies in the treatment of congenital heart disease in trisomy 13 or 18. J Genet Couns. 2011 Oct;20(5):495-509. Abstract. A multi-disciplinary team may experience controversy in formulating a care plan that includes cardiac intervention.
Janvier A et al 2011 Pediatrics 2011;127:754–759 Ethical Rounds: An infant with trisomy 18 and a ventricular septal defect Pediatrics, Volume 127, Number 4, April 2011. The case of an infant with trisomy 18 was presented to two neonatologists and an unrelated parent. They do not agree about the right thing to do.
Carey JC 2011. review of Janvier A et al 2011 Ethical Rounds: An infant with trisomy 18 and a ventricular septal defect. Pediatrics 127:754-759. SOFT Times May/June/July 2011
Maeda et al. 2011. Am J Med Genet Part A The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan. This article is a review of 134 children with trisomy 18, and 27 children with trisomy 13 from the Japanese Society of Pediatric Cardiology and Cardiac Surgery. Approximately 25% of the children had cardiac surgery. Survival was related to birth weight and gestational age.
Muneuchi J. 2011. Cardiol Young Outcomes of cardiac surgery in trisomy 18 patients. The authors described 34 Japanese children with trisomy 18. Some of the children were treated conservatively while others had cardiac surgery. The one year survival rates for the two groups were 9% and 25%, respectively. The authors conclude that some children can be helped with cardiac surgery.
Kobayashi et al. 2010. Gen Thorac Cardiovasc Surg J, Radical surgery for a ventricular septal defect associated with trisomy. Five female infants with trisomy 18 from Japan underwent full cardiac repair. All survived surgery and lived beyond 30 days with an average survival after surgery of 815 days. The authors conclude that cardiac surgery can be beneficial for some children with trisomy 18.
Kaneko. 2009. Pediatr Cardiol Cardiac surgery in patients with trisomy 18. Describes the outcome of 17 babies with trisomy 18 who received cardiac surgery.
Kaneko et al. 2008. Pediatrics Intensive cardiac management in patients with trisomy 13 or trisomy 18 Am J Med Genet Part A. This article reviewed the outcome of 31 consecutive Japanese infants with trisomy 13 or 18 born between 2000 and 2005. Some children were offered both medications and surgery for cardiac anomalies resulting in a significant increase in survival.
Carey JC 2005. Health Supervision and Anticipatory Guidance for Infants and Children with Trisomy 18 and 13 updated from 1993 Trisomy in Review, Trisomy 18, 13 and Related Disorders, Research Newsletter (SOFT)
Graham et al. 2004. Am J Cardiol Effectiveness of cardiac surgery in trisomies 13 and 18 (from the Pediatric Cardiac Care Consortium). A report of 35 cardiac surgeries performed at one of 48 reporting centers in the US, Canada and Europe.
Bhatt, et al, 2004. Management of infants with large, unrepaired ventricular septal defects (VSDs) J Thorac Cardiovasc Surg. 2004 May;127(5):1466-73. Management of infants with large, unrepaired ventricular septal defects and respiratory infection requiring mechanical ventilation
Graham, et al 2004 Pediatric Cardiac Care Consortium. Effectiveness of cardiac surgery in trisomies 13 and 18 (from the Pediatric Cardiac Care Consortium). Am J Cardiol. 2004 Mar 15;93(6):801-3.
Carey JC 1993. Trisomy in Review, Trisomy 18, 13, and Related Disorders, Research Newsletter Review of articles published 1988-1991: – Phenotype and natural history of partial trisomy 18 – Congenital heart defects – Survival studies – Oncology – Prenatal diagnosis
Genes are the blueprint for our bodies. Almost every cell in the body has a copy of the blueprint, stored inside a sac called the nucleus. Genes are beaded along chromosomes, which are tightly bundled strands of the chemical substance deoxyribonucleic acid (DNA). Humans usually have 23 pairs of chromosomes, with two sex chromosomes that decide gender and 44 chromosomes that dictate other factors, such as growth and function.
A chromosome disorder is caused by an alteration in the number or genetic structure of chromosomes. Trisomy ('three bodies') means the affected person has 47 chromosomes instead of 46. Down syndrome, Edward syndrome and Patau syndrome are the most common forms of trisomy. Children affected by trisomy usually have a range of birth defects, including delayed development and intellectual disabilities.
Become a Member
What does it mean to be a member?
SOFT loves building connections with medical professionals. We want to educate families and professionals by using data and research. Being a Medical Member of SOFT provides the opportunity to learn more about our children, and how to connect and communicate with Trisomy families and other professional medical members. Access to an extensive collection of peer-reviewed literature is encluded.
SOFT does not share personal information with any other organization.