Long-term survival of a 6-year-old with trisomy 18 after cardiac intervention: The emerging need for comprehensive guidelines beyond the newborn period

Key, Phillip; Qiryaqoz, Zeena; Sikkema, Megan; Letherer, Arianna; Harden, Jamie L.

doi:10.1016/j.ppedcard.2020.101225

Cited by 2 publications

(1 citation statement)

References 16 publications

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“…In a small case study published in 1996, no patients with trisomy 18 had reached 1 year of age (Embleton et al, 1996). However, due to the increasing adoption of therapeutic management for these infants, a greater proportion of these patients are now surviving into their first year of life (Goel et al, 2019; Key et al, 2020; Meyer et al, 2016; Neubauer & Boss, 2020; Rasmussen et al, 2003). As a result, it has been recently estimated that anywhere between 3% and 25% of infants with trisomy 18 survived longer than 1 year, depending in part on the number of screening procedures and interventions provided (Goel et al, 2019; Hsiao et al, 2009; Muneuchi et al, 2011; Nelson et al, 2016; Niedrist et al, 2006).…”

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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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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Liveborn children with trisomy 18: A scoping review

Schlosser,

MacPherson,

Castro-Codesal

et al. 2024

Journal of Neonatal-Perinatal Medicine

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Background There have been an increasing number of publications related to trisomy 18 associated with a shift in the philosophy of care. The objective of this review is to understand the scope of contemporary literature informing the care of children born alive with trisomy 18. Methods Included was peer-reviewed, primary literature in MEDLINE, Embase, CINAHL, Scopus, Web of Science, and Cochrane Library from 2012 to 2023 reporting outcomes of children born alive with trisomy 18. Data extraction involved descriptive statistics of the types of studies, and an inductive thematic analysis of the questions addressed by the studies. Results Of 4628 records identified, 229 met inclusion criteria. Key themes were organized around the domains: What is trisomy 18? What are the chances of survival with trisomy 18? What can be done to improve the chances of survival with trisomy 18? How do children with trisomy 18 die? Do surgical interventions provide a benefit? Are there non-surgical options? What knowledge is informing medical management? How is life described for children with trisomy 18? What are children with trisomy 18 like as babies and as they get older? What is life like for families caring for children with trisomy 18? Conclusions A sizeable number of publications grouped trisomy 18 with other syndromes. Relatively few showed the longitudinal evolution of medical issues associated with trisomy 18, nor did they unfold the clinical heterogeneity of this population. This review shows the limited knowledge base guiding decision-making and care for children born alive with trisomy 18.

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Long-term survival of a 6-year-old with trisomy 18 after cardiac intervention: The emerging need for comprehensive guidelines beyond the newborn period

Cited by 2 publications

References 16 publications

Surveillance guidelines for children with trisomy 18

Surveillance guidelines for children with trisomy 18

Liveborn children with trisomy 18: A scoping review

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