This is a list of Trisomy 18 general academic papers which may be useful.
Medical Procedures and Outcomes of Japanese Patients With Trisomy 18 or Trisomy 13: Analysis of a Nationwide Administrative Database of Hospitalized Patients (Ishitsuka et al) 2015
Discusses the wide variety of medical procedures received by children with T18 and 13 in Japan. Useful data. Does not discuss cardiac surgery. Link goes to abstract only. Health care professionals can access via Open Athens, others can purchase.
22 Survivors over the age of 1 year with full trisomy 18: current and presenting medical conditions (Bruns D, Campbell E) 2014
Characteristics of 22 survivors with FT18 and the interventions they have had. Pro active treatment. Link goes to abstract only. Health care professionals can access via Open Athens, others can purchase.
Evolving Medical and Surgical Management of infants with Trisomy 18 (Lorenz J, Hardart G) 2014
States that to deny life prolonging treatment is 'indefensible', supports parental choice. Discusses poor outcomes even with treatment.
Mortality and morbidity of VLBW infants with trisomy 13 or trisomy 18 (Nansi S et al) 2014
Looks at outcomes for infants under 1500g with trisomies, both prenatal and postnatal diagnosis. Some prenatally diagnosed infants received intensive care and some postnatally diagnosed infants continued to receive intensive care, however most received palliative care which it is acknowledged skews the survival figures. Study reports poor outcomes for the group overall with 11% of T13 and 9% of T18 infants surviving until hospital discharge.
The natural history of pregnancies with a diagnosis of trisomy 18 or trisomy 13; a retrospective case series (Houlihan O, O'Donoghue K) 2013
A review from Ireland of pregnancies with trisomy. Routine screening for aneuploidies was not offered and termination was not available without travelling abroad. Caeserean section rates were high, survival rates were relatively low. I can only assume palliative management was the norm.
Natural History and Parental Experience of children with Trisomy 18. Based on a questionanaire given to a Japanese Trisomy 18 Parental Support Group (Kosho T et al) 2013
Discusses the history of and the interventions and care received by 65 Japanese children with full T18.
Survival of Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome) in England and Wales 2004-2011 (Wu et al) 2013
Describes the relatively low survival rates for T18 and T13 in England and Wales where children are predominantly managed using a palliative approach. Useful to compare figures to other studies where children are managed actively. Also one of the best population based studies. Link goes to abstract only. Health care professionals can access via Open Athens, others can purchase. There seems to be a free unofficial version here
The Trisomy 18 syndrome (Cereda A and Carey J) 2012
The most through article on T18, a good overview for medical professionals, pro active management and discusses the ethics of this decision. Also discusses typical presentations, causes of death, antenatal diagnosis and management of complications.
The Experience of Families with Children with Trisomy 18 and 13 in Social Networks (Janvier Aet al) 2012-discusses the experiences of parents with children with T18 and 13, the key paper on quality of life. Also compares the experience of parents who chose palliative care only and those who chose full intervention. The latter had fewer regrets.
Confronting Ambiguity-identifying options for infants with Trisomy 18 (Derrington S, Dwowetz A) 2011 tentatively pro active treatment, discusses the ethics of both approaches.
Trisomy 18 in neonates: prenatal diagnosis, clinical features, therapeutic dilemmas and outcome. (Goc et al) 2006
An article examining the outcomes of postnatally diagnosed infants with Trisomy 18 managed 'aggressively' in Poland. Opposed to active treatment as high mortality rate for these infants (30% survived to leave the NICU, of non survivors, median lifespan was 20 days) however it should be noted that once diagnosis was confirmed, treatment including complete cardiac repair and 'aggressive treatment' of cardiac and respiratory failure was withheld, It is unclear how this affects the survival rates. We used this article to argue that outcomes for infants with T18 even in this anti treatment article are better than that for extremely preterm infants whose parents are offered resuscitation and full treatment and therefore infants with T18 should also be offered full treatment (see ethics summary here ) Abstract only. Full article can be purchased.
Survival with Trisomy 18-data from Switzerland (Niedrist et al) 2006
Looks at all patients diagnosed with T18 in one lab in Switzerland from 1963-2003. Discusses common presentations and survival rates and features associated with survival. We found it helpful for identifying that diaphragmatic hernia was not negatively associated with survival. 4% of females survived until age 10 in this study.
Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers (Brewer C et al) 2002
Very useful Scottish study which sought to work out the likelihood of survival by time already survived. For example if a child was 1 week old, the percentage chance of surviving to a year was statistically higher than a child who was unborn. They point out that the high death rate within 24 hours skews the survival statistics. The survival table is here
Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, an reccurence risk (Baty et al) 1994
A very early article which discusses medical histories including interventions and the T18 growth charts. Available on the SOFT UK website here as is part 2 which discusses development, may need to ask for access. Abstract available to all. part 2 abstract is here . Growth charts alone can be accessed on the SOFT US website here