Professional Literature: Ethics and Commentaries
In addition to the information listed here, some useful books are available from the SOFT publications page: Trisomy 18: A Handbook for Families and Trisomy 13: A Handbook for Families. These touch on legal and educational aspects as well as the diagnosis itself. Also available is Care of the Infant and Child with Trisomy 18 or Trisomy 13 which provides a great deal of care information for families. All these are available in both English and Spanish.
♦ et al,, 2016. Does medical intervention affect outcome in infants with trisomy 18 or trisomy 13? Am J Med Genet Part A 9999A:847–849.
♦ Haug, S, et al, 2017 Using Patient-Centered Care After a Prenatal Diagnosis of Trisomy 18 or Trisomy 13: A Review.
JAMA Pediatr. 2017 Feb 13. doi: 10.1001/jamapediatrics.2016.4798. [Epub ahead of print]
♦ Video, McCaffrey, 2016: EVERY CASE IS UNIQUE: Delivering optimal medical care to babies born with Trisomy 13 and Trisomy 18. Dr. Martin McCaffrey speaking at the Perinatal Conference in Dublin, 2016
♦ Bruns, D, et al, 2016 Twenty-Two Survivors over the Age of 1 Year with Full Trisomy 18: Presenting and Current Medical Conditions American Journal of Medical Genetics, Part C, Seminars in Medical Genetics, September 15, 2016 (whole issue)
♦ Donovan, Jennifer, et al, 2016 Medical Interventions and Survival by Gender of Children With Trisomy 18 American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 172C:272–278 (2016)
♦ Pearson, Alison, 05/06/2015 Never Say Never about our child – an article in the BMJ (formerly the British Medical Journal). In the latest of a monthly series in which patients and care-givers set the learning outcomes for readers, Alison Pearson asks healthcare staff to reconsider the concept of offering “false hope.”
♦ 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]
♦ Koogler et al 2013 Hastings Center Report Lethal language, lethal decisions. Although many of the congenital syndromes that used to be lethal no longer are, they are still routinely referred to as “lethal anomalies.”
♦ Berg et al. 2013 Am J Hosp Palliat Care, 2013, Jun;30(4):406-8. doi: 10.1177/1049909112465790. Why were they in such a hurry to see her die? Parents of a baby with trisomy 18 share the experience of their baby’s birth and short life including the lack of understanding of the staff. Both parents of the baby are physicians.
♦ Guon, et al, 2013 Our children are not a diagnosis: the experience of parents who continue their pregnancy after a prenatal diagnosis of trisomy 13 or 18. AJMG Vol 164, Issue 2, Feb 2014; 308-318
♦ Boss et al. 2013 Pediatrics Trisomy 18 and complex congenital heart disease: seeking the threshold benefit A prenatal diagnosis of ductal-dependent, complex congenital heart disease was made in a fetus with trisomy 18. A prenatal ethics consultation was requested. Their journey to obtain approval before birth including multiple meetings with staff.
♦ Bruns, D. A. 2013. Erring on the side of life: Children with rare trisomy conditions, medical interventions and quality of life. Journal of Genetic Disorders and Genetic Reports. This article presents a call to examine the individual child rather than decision-making by diagnosis.
♦ Wu, et al. 2013 American Journal of Medical Genetics Part A Volume 161, Issue 10, Article first published online: 17 SEP 2013 Survival Rates, Times Noted for Live Births With Trisomy 13 and 18 Wu et al suggest that detailed and accurate information about the survival of children with trisomies 13 and 18 should be provided to parents, genetic counselors, and health professionals caring for affected families.
♦ Loane M et al 2013. Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. Eur J Hum Genet. 2013 Jan;21(1):27-33 (abstract)
♦ Heuser et al. 2012 J Med Ethics Survey of physicians’ approach to severe fetal anomalies.
732 members of the American Society of Maternal Fetal Medicine were surveyed regarding the manner in which women receiving a trisomy diagnosis are counselled, regarding termination and delivery.
♦ Carey JC 2012 Perspectives on the care and management of infants with trisomy 18 and trisomy 13: striving for balance (abstract) Curr Opin Pediatr 2012, 24:000 – 000
♦ Janvier A et al 2012. The Experience of Families With Children With Trisomy 13 and 18 in Social Networks Am Academy of Pediatrics, doi:10.1542/peds.2012-0151
♦ Tsukada K et al 2012. Better Prognosis in Newborns with Trisomy 13 Who Received Intensive Treatments: A Retrospective Study of 16 Patients Cell Biochem Biophys. 2012 July; 63(3): 191–198.
♦ Merritt TA et al 2012. Trisomy 18 and Trisomy 13: Treatment and Management Decisions (abstract) NeoReviews Vol. 13 No. 1 January 1, 2012 pp. e40 -e48 (doi: 10.1542/neo.13-1-e40) Am Academy of Pediatrics
♦ Derrington SF, Dworetz AR 2012. Confronting ambiguity: identifying options for infants with trisomy 18.J Clin Ethics. 2011 Winter;22(4):338-44; author reply 358-62. Abstract.
♦ Janvier A et al, 2011 Ethical Rounds: An infant with trisomy 18 and a ventricular septal defect Pediatrics, Volume 127, Number 4, April 2011
♦ 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
♦ Felton LJ 2011. Trisomy 13 and 18 and Quality of Life: Treading ‘‘Softly’’ Am J Med Genet Part A 155:1527–1528.
♦ Thiele et al, 2011. BMJ Destined to die An Australian mother’s experience: At 18 weeks’ gestation Pauline Thiele’s baby was diagnosed with trisomy 18, a usually lethal syndrome.
♦ Everett BJ et al. 2011. J Clin Ethics Ethical care for infants with conditions not curable with intensive care.
Offering intensive care to neonates who have conditions that carry extremely poor prognoses is a source of great contention amongst neonatologists.
♦ Mercurio 2011 J Perinatol The role of pediatrics ethics committee in the newborn intensive care unit
Two cases are presented as illustrations of pediatric ethics committee function.
♦ 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.
♦ Morrison et al. 2010. Circulation 2010 American Heart Association Guidelines for Cardiopulmonary Resuscitation and Emergency Cardiovascular Care Science Part 3: Ethics Healthcare professionals should consider ethical, legal, and cultural factors when caring for those in need of CPR.
♦ Wilkinson 2010 J Med Ethics Antenatal diagnosis of trisomy 18, harm and parental choice. This commentary assesses the possible harms of continued life, to a fetus with trisomy 18.
♦ McGraw et al. 2008. Pediatrics Attitudes of neonatologists toward delivery room management of confirmed trisomy 18: potential factors influencing a changing dynamic. Until recently, there was universal consensus that trisomy 18 was a lethal anomaly for which resuscitation in the delivery room was not indicated. There are two published responses to this article (Dr. S Showalter and Dr. John Carey):
♦ Siegel, 2006 Mt Sinai J Med When staff and parents disagree: decision making for a baby with trisomy 13 Parents often make medical decisions for their children. As pediatricians, we must be sure that the decisions are medically informed.
♦ Guinan 2005 Virtual Mentor. Patau syndrome and perinatal decision making. Clinical Cases: The obstetrician offered the family 2 options: early induction of labor or term delivery of the child with palliative care after birth.