Procedures in the 1st year of life for children with trisomy 13 and trisomy 18, a 25‐year, single‐center review

Abstract

Care of the child born with trisomy 13 or 18 has evolved over the past few decades, leading to increased healthcare utilization. We hypothesized that there has been an increase in procedures across all intensity types, including major, invasive procedures. We performed a retrospective-cohort study of children with trisomy 13 or 18 from 1990 to 2014 in a quaternary, free-standing children's hospital. Children were identified using ICD-9 billing diagnoses. Procedures were identified during these encounters and categorized by intensity (major, intermediate, or minor). One hundred thirty-two children with trisomy 13 or 18 were identified. In children with trisomy 13, major procedures increased from period 1 (1990-1997) to period 3 (2006-2013) from 0.11 to 0.78 procedures per patient. For trisomy 18, the increase between the time periods was from 0.14 to 1.33 procedures per patient. By the end of the study period, nearly all trisomy 13 patients had a major procedure and the majority of those with trisomy 18 had undergone a major procedure. Estimated 1-year survival for those with a major procedure was 30% and 22% for trisomies 13 and 18, respectively. In conclusion, there was an increasing rate of procedures per patient of all intensity levels over the 25-year study period. Given differences in characteristics in those with trisomies 13 and 18, and effects of intervention on survival, an individualized approach to care of these patients should be employed by parents and healthcare providers, using factors such as trisomy type, infant gender, co-morbidities, and parental preference. © 2016 Wiley Periodicals, Inc.

Trisomy 13 and 18—Prevalence and mortality—A multi‐registry population based analysis

“…Despite the poor prognosis for T13 and T18, there have been recent reports of long-term survival of more than 5 years age (Janvier, Farlow, & Barrington, 2016; Janvier, Farlow, & Wilfond, 2012; Meyer et al, 2016; Wu et al, 2013). Growing evidence has shown that medical and surgical interventions can prolong survival (Domingo, Carey, Eckhauser, Wilkes, & Menon, 2018; Josephsen, Armbrecht, Braddock, & Cibulskis, 2016; Kaneko et al, 2008; Kosho, Kuniba, Tanikawa, Hashimoto, & Sakurai, 2013; Nelson et al, 2016; Nelson, Hexem, & Feudtner, 2012; Tsukada, Imataka, Suzumura, & Arisaka, 2012). Regional variations in screening and care for infants with T13 or T18 and differences in public, parental, or professional perceptions pose ethical challenges for parents and professionals when encountering a prenatal diagnosis.…”

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

“…Consequently, survival to 1 year of age is poor, at approximately 10% (Goel et al, 2019). Previously defined as lethal conditions, medical, and surgical interventions offered in these populations are increasing (Josephsen, Armbrecht, Braddock, & Cibulskis, 2016; Nelson, Rosella, Mahant, & Guttmann, 2016; Shibuya et al, 2018) as patients are surviving into childhood (Meyer et al, 2016) and even adulthood (Patterson et al, 2017; Tunca, Kadandale, & Pivnick, 2001).…”

Transitions in Care for Infants with Trisomy 13 or 18

“…Three infants with cardiac malformations initially received comfort care during the birth hospitalization and went home with hospice (cases [12][13][14]. They all represented for admission, receiving a variety of interventions during their readmissions including cardiac catheterization, mechanical ventilation, and lumbar puncture.…”

“…Our study is similar to other studies that demonstrate a wide and growing range of interventions provided to children with T13 or T18, including cardiac surgical procedures, noncardiac surgical procedures (orthopaedic, ear/ nose/throat, and gastrointestinal procedures and tracheostomy placement) as well as less-aggressive medical interventions. 4,14,23,24 Other authors have concentrated on documenting the parents' perspective 20,25,26 ; however, there is less information published on how care provided to individual patients with T13 or T18 changes over time. Our study expands this literature by outlining patterns of care provided that are not firmly situated in comfort care or in intervention but along a continuum.…”

“…3 This evolution has been accompanied by a growing body of literature documenting the feasibility of aggressive interventions, such as cardiac repair for this population, with accompanying improvements in lifespan. [4][5][6][7][8][9][10][11][12][13][14][15] Devising management plans for infants with T13 or T18 is challenging. There is lack of consensus among providers about what interventions should be offered, and evidence suggests that parental preferences for aggressive intervention rather than measures focused on comfort care strongly influences provider recommendations.…”