Impacts of surgical interventions on the long-term outcomes in individuals with trisomy 18

Iida, Chiaki; Muneuchi, Jun; Yamamoto, Jun; Yokota, Chie; Ohmura, Junya; Kamimura, Tetsuro; Ochiai, Yoshie; Matsumoto, Naoko; Araki, Shunsuke; Shimizu, Daisuke; Yamaguchi, Kenichiro; Sakemi, Yoshihiro; Watanabe, Mamie; Sugitani, Yuichiro; Takahashi, Yoshio

doi:10.1016/j.jpedsurg.2019.12.009

Cited by 12 publications

(16 citation statements)

References 17 publications

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“…This proportion is re ected by other reports, in which 7-26% of the children had cardiac surgeries performed. (6,10,16,22) Other studies reveal that infants may undergo major surgeries, not only cardiac surgery but others as gastrointestinal surgery and neurologic procedures. (6,10,21,22) It is needed to have into consideration that, even if corrective surgery might not be appropriate in certain cases, it is known that surgical intervention contributes to a decrease in-hospital mortality and makes it possible to achieve home care more easily.…”

Section: Discussionmentioning

confidence: 99%

Trisomy 18 – When the Diagnosis Is Compatible With Life

Silva

Ferreira

Saraiva

et al. 2021

Preprint

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Trisomy 18 is an autosomal chromosomal disorder characterized by the presence of an extra 18 chromosome. In the last decades, and as the therapeutic options have become more relevant, the medical community witnessed a paradigm shift on the offer of treatment to these children.This is a retrospective, cohort study that strives to characterize the clinical path and survival of the children with the diagnosis of trisomy 18, accompanied in a tertiary pediatric hospital between 1995 and 2020.Six children were identified with trisomy 18, two of them mosaic (33,3%) and four were females (66,7%). All had cardiovascular, cognitive and physical development anomalies or minor congenital anomalies (n=6, 100%) and most presented musculoskeletal anomalies (n=5, 83,3%) and feeding difficulties (n=4, 66,7%). Four children (66,7%) were reliant on devices or equipment and all needed chronic medication (n=6, 100%). Two children (33,3%) were submitted to surgical interventions. Four children (66,7%) were hospitalized in the last year of life. A decision of limitation of therapeutic effort was present in three cases (50%) with one child being referenced to pediatric palliative care (16,7%). One-month, one-year and ten-year survival were 66,7% (n=4), 33,3% (n=2, both mosaic), and 16,7% (n=1, mosaic) respectively.Conclusions: Knowledge on the clinical picture is of great importance regarding the neonatal care and the decisions about invasive treatments, which can involve ethical issues, highlighting, concurrently, the need for attempted referral of these children to pediatric palliative care teams.

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Section: Discussionmentioning

confidence: 99%

Trisomy 18 – When the Diagnosis Is Compatible With Life

Silva

Ferreira

Saraiva

et al. 2021

Preprint

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“…Controversy remains regarding whether aggressive respiratory or cardiac and digestive surgical interventions should be widely applied [1]. Recent studies report benefits for children with major malformations, with extended survival or home care [3][4][5][6]. DOI: 10.1159/000512922 Improved surgical techniques and understanding of the disease have led to more patients receiving medical attention, including cardiac surgery [7], thus influencing the outcomes for trisomy 18.…”

Section: Introductionmentioning

confidence: 99%

“…DOI: 10.1159/000512922 Improved surgical techniques and understanding of the disease have led to more patients receiving medical attention, including cardiac surgery [7], thus influencing the outcomes for trisomy 18. Currently, no comparable studies from Japan based on national data have reported the survival pattern in patients with trisomy 18 syndrome, despite numerous case reports and studies with longer postoperative survival times [4][5][6][8][9][10][11]. At least 1 hospital claims-based report showed that more patients receive invasive therapies, including surgery, than they did previously in Japan [12].…”

Section: Introductionmentioning

confidence: 99%

Population-Based Analysis of Secular Trends in Age at Death in Trisomy 18 Syndrome in Japan from 1975 to 2016

2021

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Introduction: Despite changes in prenatal diagnostic methods and perceptions regarding the prognosis of and treatment options for patients with trisomy 18 syndrome, data on the secular changes in patient survival are limited. This study aimed to investigate the survival pattern for such patients. Methods: To investigate the general patient survival patterns, we used data from the vital statistics database of deaths in Japan from 1975 to 2016. We described demographic factors, such as sex, gestational age at delivery, and surgical history, for patients whose primary cause of death was trisomy 18 syndrome. Results: The proportions of deaths within 24 h of birth (4.0% in 1975–1980 to 21.9% in 2011–2016) and at age ≥1 year (8.9% in 1975–1980 to 17.7% in 2011–2016) increased. The median survival time was higher for females, infants born after 37 weeks of gestation, and those who received surgical intervention. The median survival time tripled among patients who received surgical intervention (61.5 days in 1995–2005 to 182.5 days in 2006–2016), and the proportion of such patients increased (from 3.8% in 1995 to 24.1% of the entire affected population in 2016). Discussion/Conclusion: In Japan, the median survival time of infants with trisomy 18 increased over time, and the proportion of death within 24 h and at ≥1 year increased. Greater acknowledgement of the possible benefits of surgical intervention likely led to the increased provision of interventions and contributed to the increased survival time.

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“…Additional information available in the literature regarding the use of a patient-centered care approach and the impact of surgical interventions on the long-term outcomes were also communicated [2,3,6,8,14,[25][26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44]. Following a painful decision-making process, a final request for therapeutic termination of pregnancy was made.…”

Section: Introductionmentioning

confidence: 99%

A visual tool inclusive of fetal ultrasound and autopsy findings to reach a balanced approach to counselling on trisomy 18 in early second trimester

Triunfo¹,

Bonollo²,

Gaffuri³

et al. 2020

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Identified by the eponym “Edwards’ Syndrome,” trisomy 18 (T18) represents the second most common autosomal trisomy after T21. The pathophysiology underlying the extra chromosome 18 is a nondisjunction error, mainly linked with the advanced maternal age. More frequent in female fetuses, the syndrome portends high mortality, reaching a rate of 80% of miscarriages or stillbirths. The three-step evaluation includes first trimester screening for fetal aneuploidy using a combination of maternal age, fetal nuchal translucency thickness, fetal heart rate and maternal serum free ß-hCG and PAPP-A; followed by the research for fragments of fetal DNA in maternal blood; and, finally, invasive techniques leave to the established diagnosis. Starting with the first trimester scan, selected ultrasound findings should be investigated to define not only the impact of the genetic problem on the fetus, but also to address the prenatal counselling. Previous series underline that T18 is not uniformly lethal. An active dialogue on the choices in the management of infants with T18 has emerged, sustained by the transition from the comfort care to the intervention attitude. Survival rates for individuals with supposedly fatal conditions have increased. In this novel scenario, an ad hoc counselling is pivotal. To support it, a comparative analysis by pictorial assays between ultrasound and autopsy findings could be beneficial. We provide an illustrative tool from a clinical case managed in early second trimester, with the purpose to strive a balanced approach in the hard choice faced by couples of fetuses with T18.

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Impacts of surgical interventions on the long-term outcomes in individuals with trisomy 18

Cited by 12 publications

References 17 publications

Trisomy 18 – When the Diagnosis Is Compatible With Life

Trisomy 18 – When the Diagnosis Is Compatible With Life

Population-Based Analysis of Secular Trends in Age at Death in Trisomy 18 Syndrome in Japan from 1975 to 2016

A visual tool inclusive of fetal ultrasound and autopsy findings to reach a balanced approach to counselling on trisomy 18 in early second trimester

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