Emerging evidence that medical and surgical interventions improve the survival and outcome in the trisomy 13 and 18 syndromes

Carey, John C.

doi:10.1002/ajmg.a.61370

Cited by 20 publications

(16 citation statements)

References 14 publications

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“…Two recent studies that analysed survival of children with trisomy 13 or 18 beyond 1 year [ 25 , 72 ] demonstrated that although cumulative survival was low, children who were alive at their first birthday had around an 80% chance of survival to their fifth birthday, and 86% of those who survived to age 5 were likely to live to age 10 years [ 25 ]. Despite the emerging evidence that intensive care and surgical interventions improve the survival in these children [ 85 ], the debate in the medical community in relation to the interventions to be offered to infants with these trisomies is ongoing [ 85 – 87 ] because of severe cognitive impairment in the survivors and considerations in relation to family and societal burden [ 87 ]. Current medical experts’ view is that medical care of children with trisomies 13 and 18 should be evidence-based [ 85 ], and more consideration should be given to personalised care of these children, providing more information to parents and taking into account their hopes and wishes [ 86 ].…”

Section: Discussionmentioning

confidence: 99%

“…Despite the emerging evidence that intensive care and surgical interventions improve the survival in these children [ 85 ], the debate in the medical community in relation to the interventions to be offered to infants with these trisomies is ongoing [ 85 – 87 ] because of severe cognitive impairment in the survivors and considerations in relation to family and societal burden [ 87 ]. Current medical experts’ view is that medical care of children with trisomies 13 and 18 should be evidence-based [ 85 ], and more consideration should be given to personalised care of these children, providing more information to parents and taking into account their hopes and wishes [ 86 ].…”

Section: Discussionmentioning

confidence: 99%

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Long-term survival of children born with congenital anomalies: A systematic review and meta-analysis of population-based studies

et al. 2020

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Background Following a reduction in global child mortality due to communicable diseases, the relative contribution of congenital anomalies to child mortality is increasing. Although infant survival of children born with congenital anomalies has improved for many anomaly types in recent decades, there is less evidence on survival beyond infancy. We aimed to systematically review, summarise, and quantify the existing population-based data on long-term survival of individuals born with specific major congenital anomalies and examine the factors associated with survival. Methods and findings Seven electronic databases (Medline, Embase, Scopus, PsycINFO, CINAHL, ProQuest Natural, and Biological Science Collections), reference lists, and citations of the included articles for studies published 1 January 1995 to 30 April 2020 were searched. Screening for eligibility, data extraction, and quality appraisal were performed in duplicate. We included original population-based studies that reported long-term survival (beyond 1 year of life) of children born with a major congenital anomaly with the follow-up starting from birth that were published in the English language as peer-reviewed papers. Studies on congenital heart defects (CHDs) were excluded because of a recent systematic review of population-based studies of CHD survival. Meta-analysis was performed to pool survival estimates, accounting for trends over time. Of 10,888 identified articles, 55 (n = 367,801 live births) met the inclusion criteria and were summarised narratively, 41 studies (n = 54,676) investigating eight congenital anomaly types (

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Long-term survival of children born with congenital anomalies: A systematic review and meta-analysis of population-based studies

et al. 2020

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“…In 2019, the 5‐year survival rates revealed trisomy 13 at 7% and trisomy 18 at 7.7% (Goel et al, 2019). There is emerging evidence that surgical and medical interventions may potentially further improve the survival rates of children with trisomy 13 and 18 (Carey, 2019; Kosho & Carey, 2016; Lorenz & Hardart, 2014; Meyer et al, 2016; Nelson et al, 2016).…”

Section: Geneticsmentioning

confidence: 99%

Interdisciplinary care of children with trisomy 13 and 18

Weaver

Anderson

Beck

et al. 2020

American J of Med Genetics Pt A

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Children with trisomy 13 and 18 (previously deemed “incompatible with life”) are living longer, warranting a comprehensive overview of their unique comorbidities and complex care needs. This Review Article provides a summation of the recent literature, informed by the study team's Interdisciplinary Trisomy Translational Program consisting of representatives from: cardiology, cardiothoracic surgery, neonatology, otolaryngology, intensive care, neurology, social work, chaplaincy, nursing, and palliative care. Medical interventions are discussed in the context of decisional‐paradigms and whole‐family considerations. The communication format, educational endeavors, and lessons learned from the study team's interdisciplinary care processes are shared with recognition of the potential for replication and implementation in other care settings.

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“…Recently, the management of these infants has more commonly included surgical cardiac repair or palliation, which has resulted in increased neonatal survival in these infants (Carey, 2020; Kaneko et al, 2008; Kato et al, 2019; Muneuchi et al, 2011; Peterson et al, 2017). VSD repair is the most common surgical intervention performed, and while the full impact of cardiac surgery on this population is not yet fully clear, treatment plans that include considerations for cardiac surgery have consistently been shown to increased survival in patients with trisomy 18 (Bruns & Martinez, 2016; Carey, 2020; Kaneko et al, 2008; Kato et al, 2019; Kosiv et al, 2017; Maeda et al, 2011). Concurrent with the trend of offering a wider range of postnatal therapies to infant with trisomy 18, studies have noted increased 1‐year survival rates in Europe, North America, and South America from nearly 0% to 10% since 1996 (Embleton et al, 1996; Goel et al, 2019).…”

Section: Introductionmentioning

confidence: 99%

Surveillance guidelines for children with trisomy 18

Kepple

Fishler

Peeples

2021

American J of Med Genetics Pt A

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Trisomy 18 is the second most common aneuploidy syndromes in live born infants. It is associated with high mortality rates, estimated to be 75%–95% in the first year of life, as well as significant morbidity in survivors. The low survival is largely due to the high prevalence of severe congenital anomalies in infants with this diagnosis. However, interventions to repair or palliate those life‐threatening anomalies are being performed at a higher rate for these infants, resulting in increased rates of survival beyond the first year of life. While it is well documented that trisomy 18 is associated with several cardiac malformations, these patients also have respiratory, neurological, neoplastic, genitourinary, abdominal, otolaryngologic, and orthopedic complications that can impact their quality of life. The goal of this review is to present a comprehensive description of complications in children with trisomy 18 to aid in the development of monitoring and treatment guidelines for the increasing number of providers who will be caring for these patients throughout their lives. Where the evidence is available, this review presents screening recommendations to allow for more rapid detection and documentation of these complications.

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Emerging evidence that medical and surgical interventions improve the survival and outcome in the trisomy 13 and 18 syndromes

Cited by 20 publications

References 14 publications

Long-term survival of children born with congenital anomalies: A systematic review and meta-analysis of population-based studies

Long-term survival of children born with congenital anomalies: A systematic review and meta-analysis of population-based studies

Interdisciplinary care of children with trisomy 13 and 18

Surveillance guidelines for children with trisomy 18

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