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诊断为13三体或18三体的胎儿及婴儿的围产期结局

Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18.

作者信息

Cortezzo DonnaMaria E, Tolusso Leandra K, Swarr Daniel T

机构信息

Division of Neonatal and Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Division of Pain and Palliative Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Department of Anesthesiology, University of Cincinnati College of Medicine, Cincinnati, OH.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.

出版信息

J Pediatr. 2022 Aug;247:116-123.e5. doi: 10.1016/j.jpeds.2022.04.010. Epub 2022 Apr 19.

Abstract

OBJECTIVES

To identify factors associated with prenatal, perinatal, and postnatal outcomes, and determine medical care use for fetuses and infants with trisomy 13 (T13) and trisomy 18 (T18).

STUDY DESIGN

This population-based retrospective cohort study included all prenatal and postnatal diagnoses of T13 or T18 in the greater Cincinnati area from January 1, 2012, to December 31, 2018. Overall survival, survival to hospital discharge, medical management, and maternal, fetal, and neonatal characteristics are analyzed.

RESULTS

There were 124 pregnancies (125 fetuses) that were identified, which resulted in 72 liveborn infants. Male fetal sex and hydrops were associated with a higher rate of spontaneous loss. The median length of survival was 7 and 29 days, for infants with T13 and T18, respectively. Of the 27 infants alive at 1 month of age, 13 (48%) were alive at 1 year of age. Only trisomy type (T13), goals of care (comfort care), and extremely low birthweight were associated with a shorter length of survival. A high degree of variability existed in the use of medical services, with 28% of infants undergoing at least 1 surgical procedure and some children requiring repeated (≤29) or prolonged (>1 year) hospitalizations.

CONCLUSIONS

Although many infants with T13 or T18 did not survive past the first week of life, nearly 20% lived for more than 1 year with varying degrees of medical support. The length of survival for an infant cannot be easily predicted, and surviving infants have high health care use throughout their lifespans.

摘要

目的

确定与产前、围产期和产后结局相关的因素,并确定13三体(T13)和18三体(T18)胎儿及婴儿的医疗护理使用情况。

研究设计

这项基于人群的回顾性队列研究纳入了2012年1月1日至2018年12月31日大辛辛那提地区所有产前和产后诊断为T13或T18的病例。分析了总体生存率、出院生存率、医疗管理以及母亲、胎儿和新生儿的特征。

结果

共识别出124例妊娠(125例胎儿),产下72例活产婴儿。男性胎儿性别和水肿与自然流产率较高相关。T13和T18婴儿的中位生存时长分别为7天和29天。在1月龄时存活的27例婴儿中,13例(48%)在1岁时仍存活。仅三体类型(T13)、护理目标(舒适护理)和极低出生体重与较短的生存时长相关。医疗服务的使用存在高度变异性,28%的婴儿接受了至少1次外科手术,一些儿童需要反复(≤29次)或长期(>1年)住院治疗。

结论

尽管许多T13或T18婴儿在出生后第一周内未能存活,但近20%的婴儿在不同程度的医疗支持下存活了1年以上。婴儿的生存时长难以轻易预测,存活的婴儿在其整个生命周期中医疗保健使用率较高。

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