Trisomy 13 and 18 and quality of life: Treading “softly”

Fenton, Lawrence J.

doi:10.1002/ajmg.a.34084

Cited by 17 publications

(22 citation statements)

References 2 publications

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“…Parents and families of children with trisomy 18 cope well, appreciate a unique quality of life in their children, value their children deeply, and want to be a part of the decisions made around care. In a study of a web-based survey Janvier et al documented this experience in over 300 families coping with the challenges of parenting children with trisomy 18 internationally [105]. Fenton [105] also related his experience as a palliative care specialist and expanded the traditionally narrowed view of quality of life in children and their parents with trisomy 18 (and 13).…”

Section: Unresolved Questionsmentioning

confidence: 99%

“…In a study of a web-based survey Janvier et al documented this experience in over 300 families coping with the challenges of parenting children with trisomy 18 internationally [105]. Fenton [105] also related his experience as a palliative care specialist and expanded the traditionally narrowed view of quality of life in children and their parents with trisomy 18 (and 13). Bruns [106] articulated these themes in a recent article that reports on parent-reported data.…”

Section: Unresolved Questionsmentioning

confidence: 99%

See 1 more Smart Citation

The trisomy 18 syndrome

Cereda

Carey

2012

Orphanet J Rare Dis

301

328

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The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full trisomy 18 is about 1%.Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition.Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team.The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations.

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Section: Unresolved Questionsmentioning

confidence: 99%

Section: Unresolved Questionsmentioning

confidence: 99%

The trisomy 18 syndrome

Cereda

Carey

2012

Orphanet J Rare Dis

301

328

View full text Add to dashboard Cite

show abstract

“…In addition, changing thoughts on palliative care must be considered on behalf of this population [46]. As Fenton [47] explained, "How easy it is to assume we know what a good quality of life is for anyone other than ourselves. We assess the burdens of care, the impact on siblings, the impact on parental relationships, the impact on finances and the utilization of resources.…”

Section: Resultsmentioning

confidence: 99%

Erring on the Side of Life: Children with Rare Trisomy Conditions, Medical Interventions and Quality of Life

Bruns¹

2013

J Genet Disor Genet

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“…Surviving children with holoprosencephaly, hydranencephaly, and trisomy 13 and 18 have been reported to experience awareness of those around them, hear and respond to sound, and to learn and remember. 31,40,41 The second major problem with futility (and with lethality) is the difficulty in determining whether treatment meets a given definition. As discussed in the previous section, the problem of self-fulfilling prophecies make it difficult to know how often (if ever) survival would be possible if all treatment were provided.…”

Section: Lethality and Futilitymentioning

confidence: 99%

Fatally flawed? A review and ethical analysis of lethal congenital malformations

Wilkinson

Thiele

Watkins

et al. 2012

BJOG

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Prenatally diagnosed abnormalities that are associated with death in the newborn period are often referred to as 'lethal malformations'. Yet, for many of the commonly described lethal malformations long-term survival is possible if supportive interventions are provided. In this paper we analyse and review fetal or congenital lethal abnormalities. The designation 'lethal' overlaps with the concept of 'medical futility'. The term is used for a heterogenous group of conditions, and hinders clear communication and counselling. We argue that the term should be avoided, and propose in its place a set of key questions that should be addressed by counselling.

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Trisomy 13 and 18 and quality of life: Treading “softly”

Cited by 17 publications

References 2 publications

The trisomy 18 syndrome

The trisomy 18 syndrome

Erring on the Side of Life: Children with Rare Trisomy Conditions, Medical Interventions and Quality of Life

Fatally flawed? A review and ethical analysis of lethal congenital malformations

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