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

Abstract

<b><i>Introduction:</i></b> 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. <b><i>Methods:</i></b> 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. <b><i>Results:</i></b> 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). <b><i>Discussion/Conclusion:</i></b> 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.

Underestimation of Trisomy 18 and 13 Syndromes in Vital Statistics from Inadequate Death Certificates

“…According to our population-based study, the significant underestimation of the number of T18 patients included in vital statistics because of inaccurate instructions for the cause of death section of the death certificate has had a substantial impact on the results of the previous analysis [1]. Pediatricians possibly do not include T18 and T13 as the primary cause of death in certain cases because these diseases cause a variety of external and organ malformations.…”

Diagnostic value of maternal alpha-fetoprotein variants in second-trimester biochemical screening for trisomy 21 and 18

“…These cases were diagnosed according to the criteria established by Chinese Birth Defect Monitoring Network and International Classification of Diseases (ICD-10) 21 , 22 . The exclusion criteria were: (1) women undergoing multiple pregnancy, (2) patients with severe medical conditions and other pregnancy complications, (3) habitual smokers, (4) infants conceived from assisted reproductive technology, (5) patients in whom follow-up results showed NTDs or other serious birth defects, (6) patients with incomplete individual information, and (7) patients whose pregnancy information did not match its cognate serum sample.…”

Cardiac Interventions for Patients With Trisomy 13 and Trisomy 18: Experience, Ethical Issues, Communication, and the Case for Individualized Family-Centered Care

“…Improved outcome data have led more centers to rethink their approach and provide complex surgery to patients with Trisomy 13 and 18. 10,28-30 We caution that, similar to a displaced pendulum, the trajectory moving away from “never offer surgery” for children may risk a turn to the extreme opposite pole to “always offer surgery” for children with these conditions. 31 It would be unfortunate if the family experience moved from barriers to surgery to inflated expectations of benefit or worse shortened lives and reduced time at home.…”