2019
DOI: 10.1002/ajmg.a.61370
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Emerging evidence that medical and surgical interventions improve the survival and outcome in the trisomy 13 and 18 syndromes

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Cited by 20 publications
(16 citation statements)
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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%
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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%
“…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%
“…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%