Center for Human Genetics, Marshfield Clinic Research Institute, Marshfield, Wisconsin.
Massachusetts Center for Birth Defects Research and Prevention, Massachusetts; Department of Public Health, Boston, Massachusetts.
Birth Defects Res. 2017 Nov 1;109(18):1430-1441. doi: 10.1002/bdr2.1112. Epub 2017 Sep 12.
Although autopsy is a key component of the etiologic evaluation following fetal and early neonatal death, and traditionally has been the preferred method to determine the cause of death, an alternative may be suitable when traditional autopsy by a perinatal pathologist is not available or declined.
Among 3137 cases evaluated through the Wisconsin Stillbirth Service Program (WiSSP), a community-based program for etiologic evaluation of second trimester miscarriage, stillbirth, and early neonatal death, most diagnoses are based on multiple types of data including placental pathology, clinical examination, photographs, maternal records, radiographs, and laboratory testing.
Cases in the WiSSP cohort without autopsy have nearly the same overall rate of diagnosis as those with traditional autopsy (56% vs. 58%). Review of the literature shows that although recent systematic protocols including autopsy, placental pathology and genetic studies yield a definite or probable diagnosis in 70% or more, both healthcare providers and families desire less invasive options. Several minimally invasive protocols substituting imaging, primarily MRI, for traditional autopsy have been proposed, but the numbers of deaths evaluated are still very small.
We join others who have promoted the benefits of a targeted or less invasive protocol to study perinatal deaths, and emphasize integration of clinical data, selective imaging, genetic testing, and parental counseling. Birth Defects Research 109:1430-1441, 2017.© 2017 Wiley Periodicals, Inc.
虽然尸检是胎儿和新生儿早期死亡病因评估的关键组成部分，且传统上一直是确定死亡原因的首选方法，但当没有或拒绝进行围产病理学家的传统尸检时，可能需要一种替代方法。
在通过威斯康星州死胎服务计划（WiSSP）评估的 3137 例病例中，该计划是一个针对中期流产、死胎和新生儿早期死亡病因评估的社区项目，大多数诊断基于多种类型的数据，包括胎盘病理学、临床检查、照片、母亲记录、X 光片和实验室检查。
WiSSP 队列中没有尸检的病例与进行传统尸检的病例的总体诊断率几乎相同（56%比 58%）。对文献的回顾表明，尽管最近包括尸检、胎盘病理学和遗传研究在内的系统方案可使 70%或更多的病例获得明确或可能的诊断，但医疗保健提供者和家庭都希望采用侵入性更小的方案。已经提出了几种替代传统尸检的微创方案，主要是 MRI，但评估的死亡人数仍然很少。
我们与其他提倡针对特定疾病或采用微创方案研究围产儿死亡的人一起，强调了临床数据、选择性成像、基因检测和父母咨询的整合。出生缺陷研究 109：1430-1441，2017。©2017 威利期刊公司。
