Abstract：
While conventional autopsy is the gold-standard for determining cause of demise in the fetal and neonatal population, molecular analysis is increasingly used as an ancillary tool. Testing methods and tissue selection should be optimized to provide informative genetic results. This institutional review compares testing modalities and postmortem tissue type in 53 demises occurring between 20 weeks of gestation and 28 days of life. Testing success, defined as completion of analysis, varies by technique and may require viable cells for culture or extractable nucleic acid. Success was achieved by microarray in 29/30 tests (96.7%), karyotype in 40/54 tests (74.1%), fluorescent in situ hybridization in 5/9 tests (55.6%), and focused gene panels in 2/2 tests (100%). With respect to tissue type, postmortem prepartum amniotic fluid was analyzed to completion in 100% of tests performed; compared to 84.0%, 54.5%, and 80.8% of tests using placenta, fetal only, and mixed fetal-placental tissue collection, respectively. Sampling skin (83.3%, in cases with minimal maceration) and kidney (75.0%) were often successful, compared to lower efficacy of umbilical cord (57.1%) and liver (25.0%). Addition of genetic testing into cases with anomalous clinical and gross findings can increase the utility of the final report for family counseling and future pregnancy planning.
摘要：
虽然传统尸检是确定胎儿和新生儿死亡原因的金标准，分子分析越来越多地被用作辅助工具。应优化测试方法和组织选择以提供翔实的遗传结果。本机构审查比较了在妊娠20周至28天之间发生的53种死亡中的检测方式和死后组织类型。测试成功,定义为完成分析，因技术而异，可能需要活细胞进行培养或可提取的核酸。成功是通过微阵列在29/30测试(96.7%),在40/54测试中的核型（74.1%），5/9测试中的荧光原位杂交（55.6％），并在2/2测试中聚焦基因面板(100%)。关于组织类型，验尸前羊水分析完成100%的测试；相比之下，84.0%，54.5%,80.8%的测试使用胎盘，只有胎儿，和混合的胎儿胎盘组织收集，分别。取样皮肤（83.3%，在最小浸渍的情况下）和肾脏（75.0％）通常是成功的，与脐带（57.1％）和肝脏（25.0％）相比，疗效较低。在临床和总体发现异常的病例中添加基因检测可以增加最终报告对家庭咨询和未来怀孕计划的实用性。
