Ludorf Katherine L, Benjamin Renata H, Shumate Charles J, Canfield Mark A, Nguyen Joanne, Agopian A J
Department of Epidemiology, University of Texas Health Science Center at Houston School of Public Health, Houston.
Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin.
JAMA Netw Open. 2025 Sep 2;8(9):e2529885. doi: 10.1001/jamanetworkopen.2025.29885.
Trisomy 13 (T13) and trisomy 18 (T18) are chromosomal abnormalities with high mortality rates in the first year of life. Understanding differences in long-term survival between children with full vs mosaic or partial trisomy is crucial for prognosis and health care planning.
To examine the differences in 10-year survival between children with full T13 and T18 vs those with mosaic or partial trisomy.
DESIGN, SETTING, AND PARTICIPANTS: This retrospective, population-based cohort study assessed liveborn infants with T13 and T18 in the Texas Birth Defects Registry (deliveries from January 1, 1999, to December 31, 2008). Follow-up was through December 31, 2018 (the last date available at the time of analyses) to allow for 10 years of follow-up for all infants. All analyses were conducted from January 1, 2022, to December 31, 2024.
Cytogenetic status (full trisomy vs mosaic or partial trisomy).
The primary outcome was survival to 10 years of age, assessed using Kaplan-Meier survival estimates. The association between cytogenetic status and mortality by 10 years of age was assessed using Cox proportional hazards regression to generate hazard ratios (HRs). Population attributable fraction was calculated to determine the percentage of survival attributable to mosaic or partial trisomy status.
The study cohort included 798 infants (463 female infants [58.0%]; mean [SD] maternal age, 30.9 [8.0] years) with T13 (n = 295) or T18 (n = 503). Among all cases with T13, 25 infants (8.5%; 95% CI, 5.5%-12.3%) survived to 10 years of age. Similarly, among all infants with T18, 43 (8.6%; 95% CI, 6.3%-11.3%) survived to 10 years of age. Kaplan-Meier survival estimates to 10 years of age were statistically significantly higher among children with mosaic or partial trisomy (13 [25.0%] and 14 [43.8%], respectively) compared with full trisomy (12 [4.9%] and 29 [6.6%], respectively) (both P < .001). Infants with full trisomy had statistically significantly increased 10-year mortality hazards compared with those with mosaic or partial trisomy for both T13 (HR, 2.00; 95% CI, 1.42-2.82) and T18 (HR, 3.34; 95% CI, 2.08-5.38). The results of the calculated proportion of 10-year survival due to the presence of nonfull trisomy status (population attributable fraction) was 41.7% for children with T13 and 27.9% for children with T18.
The findings of this cohort study of infants with T13 and T18 support differences in long-term survival based on cytogenetic status and emphasize the need to potentially reassess the context of these conditions generally being considered incompatible with life, particularly for those with mosaic trisomies. These findings offer context surrounding treatment decisions, such as withholding interventions, for affected infants in the future.
13三体综合征（T13）和18三体综合征（T18）是染色体异常疾病，在出生后第一年死亡率很高。了解完全三体与嵌合型或部分三体患儿的长期生存差异对于预后和医疗保健规划至关重要。
研究完全型T13和T18患儿与嵌合型或部分三体患儿10年生存率的差异。
设计、背景和参与者：这项基于人群的回顾性队列研究评估了得克萨斯州出生缺陷登记处（1999年1月1日至2008年12月31日期间的分娩数据）中患有T13和T18的活产婴儿。随访至2018年12月31日（分析时可获得的最后日期），以便对所有婴儿进行10年随访。所有分析于2022年1月1日至2024年12月31日进行。
细胞遗传学状态（完全三体与嵌合型或部分三体）。
主要结局是存活至10岁，使用Kaplan-Meier生存估计值进行评估。使用Cox比例风险回归评估细胞遗传学状态与10岁时死亡率之间的关联，以生成风险比（HR）。计算人群归因分数以确定因嵌合型或部分三体状态导致的生存百分比。
研究队列包括798例患有T13（n = 295）或T18（n = 503）的婴儿（4×63例女婴[58.0%]；平均[标准差]母亲年龄，30.9[8.0]岁）。在所有T13病例中，25例婴儿（8.5%；95%CI，5.5%-12.3%）存活至10岁。同样，在所有T18婴儿中，43例（8.6%；95%CI，6.3%-11.3%）存活至10岁。与完全三体患儿（分别为12例[4.9%]和29例[6.6%]）相比，嵌合型或部分三体患儿10岁时的Kaplan-Meier生存估计值在统计学上显著更高（分别为13例[25.0%]和14例[43.8%]）（均P <.001）。对于T13和T18，完全三体患儿10年死亡风险在统计学上显著高于嵌合型或部分三体患儿（T13的HR为2.00；95%CI，1.42 - 2.82；T18的HR为3.34；95%CI，2.08 - 5.38）。由于存在非完全三体状态导致的10年生存比例（人群归因分数）计算结果显示，T13患儿为41.7%，T18患儿为27.9%。
这项针对T13和T18婴儿的队列研究结果支持基于细胞遗传学状态的长期生存差异，并强调有必要重新评估通常被认为与生命不相容的这些疾病的情况，特别是对于嵌合三体患儿。这些发现为未来受影响婴儿的治疗决策（如停止干预）提供了背景信息。
