Management of apnea in infants with trisomy 18

Taira, Ryoji; Inoue, Hirosuke; Sawano, Toru; Fujiyoshi, Junko; Ichimiya, Yuko; Torio, Michiko; Sanefuji, Masafumi; Ochiai, Masayuki; Sakai, Yasunari; Ohga, Shouichi

doi:10.1111/dmcn.14403

Cited by 8 publications

(11 citation statements)

References 18 publications

(62 reference statements)

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“…A similar conclusion was drawn in another multi‐institutional study in which nonsurvivors of congenital heart surgery were all mechanically ventilated >2 days (Graham et al, 2004) prior to surgery. Yet, in a small case series of infants with T18 and known apnea, positive pressure ventilation was associated with improved survival (Taira et al, 2020). Fukasawa et al showed that some apneas are related to seizures, which improve with anti‐epileptic drugs (Fukasawa et al, 2015) and would otherwise not improve with invasive measures such as positive pressure ventilation.…”

Section: Discussionmentioning

confidence: 99%

A validated model for prediction of survival to 6 months in patients with trisomy 13 and 18

Kosiv

Long

Lee

et al. 2021

American J of Med Genetics Pt A

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Congenital heart disease is exceedingly prevalent in trisomy 13 and 18. Improved survival following congenital heart surgery has been reported, however, mortality remains significantly elevated. Utilizing inpatient data on trisomy 13 and 18 from the 2003–2016 Pediatric Health Information System database, a survival model was developed and validated using data from the California Perinatal Quality Care Collaborative and the California Office of Statewide Health Planning and Development. The study cohort included 1,761 infants with trisomy 13 and 18. Two models predicting survival to 6 months of age were developed and tested. The initial model performed excellently, with a c‐statistic of 0.87 and a c‐statistic of 0.76 in the validation cohort. After excluding procedures performed on the day of death, the revised model's c‐statistic was 0.76. Certain variables, including cardiac surgery, gastrostomy, parenteral nutrition, and mechanical ventilation, are predictive of survival to 6 months of age. This study presents a model, which potentially can inform decision‐making regarding congenital heart surgery.

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Section: Discussionmentioning

confidence: 99%

A validated model for prediction of survival to 6 months in patients with trisomy 13 and 18

Kosiv

Long

Lee

et al. 2021

American J of Med Genetics Pt A

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“…Nearly 80% of infants with trisomy 18 suffer from one or more respiratory complications (Bruns & Campbell, 2014), including parenchymal lung disease as well as upper airway obstruction and pulmonary hypertension (Cereda & Carey, 2012). Apnea has been documented in 15%–56% of patients with trisomy 18, and 14% of these patients display tracheobronchial defects (Kosho et al, 2013; Pont et al, 2006; Taira et al, 2020). Despite the high prevalence of respiratory complications, the overall rate of tracheostomy is around 4%–8% for infants with trisomy 18 (Kosho et al, 2006; Nelson et al, 2012).…”

Section: Complications Of Trisomy 18mentioning

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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“…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%

See 1 more Smart Citation

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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Management of apnea in infants with trisomy 18

Cited by 8 publications

References 18 publications

A validated model for prediction of survival to 6 months in patients with trisomy 13 and 18

A validated model for prediction of survival to 6 months in patients with trisomy 13 and 18

Surveillance guidelines for children with trisomy 18

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

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