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解决死胎检查中尸检和基因检测的障碍

Addressing Barriers to Autopsy and Genetic Testing in Stillbirth Workup.

作者信息

Gibbins Karen J, Vora Neeta L, Subramaniam Akila, Page Jessica M, Riches Naomi O, Rothwell Erin

机构信息

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Oregon Health & Science University, Portland, Oregon; the Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; the Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of Alabama at Birmingham, Birmingham, Alabama; and the Department of Obstetrics and Gynecology, Intermountain Health, and the Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah.

出版信息

O G Open. 2024 Aug 1;1(3):25. doi: 10.1097/og9.0000000000000025. eCollection 2024 Sep.

DOI:10.1097/og9.0000000000000025
PMID:41001229
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12456481/
Abstract

The cause of death in many stillbirths remains unexplained, in part because of systematic barriers to complete workup. We review the importance of placental pathology, fetal autopsy, and genetic testing in stillbirth workup. Placental pathology is useful in 65% of stillbirths, and fetal autopsy is useful in 42%. Currently, only 21% of stillbirths in the United States undergo autopsy. Barriers to complete stillbirth workup include cost of autopsy and genetic testing, availability of perinatal pathology expertise, health care professional knowledge about workup, and availability of skilled counseling to support bereaved parents in making decisions about autopsy and genetic workup. We propose solutions to overcome these barriers, including policy changes to expand access and a framework for high-quality patient counseling and decision support.

摘要

许多死产的死因仍不明确,部分原因是进行全面检查存在系统性障碍。我们回顾了胎盘病理学、胎儿尸检和基因检测在死产检查中的重要性。胎盘病理学在65%的死产中有用,胎儿尸检在42%的死产中有用。目前,美国只有21%的死产儿接受了尸检。进行全面死产检查的障碍包括尸检和基因检测的费用、围产期病理学专业知识的可获得性、医护人员对检查的了解以及为支持失去亲人的父母就尸检和基因检查做出决定而提供的专业咨询服务。我们提出了克服这些障碍的解决方案,包括扩大检查机会的政策变革以及高质量患者咨询和决策支持框架。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c60/12456481/3ebab7cf40a5/og9-1-025-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c60/12456481/3ebab7cf40a5/og9-1-025-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c60/12456481/3ebab7cf40a5/og9-1-025-g001.jpg

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本文引用的文献

1
Genomics of stillbirth.胎儿停育的基因组学研究。
Semin Perinatol. 2024 Feb;48(1):151866. doi: 10.1016/j.semperi.2023.151866. Epub 2023 Dec 19.
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Fetal and Neonatal Autopsy in the Molecular Age: Exploring Tissue Selection for Testing Success.分子时代的胎儿和新生儿尸检:探索用于检测成功的组织选择。
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Creating a postmortem examination decision aid: Suggestions from bereaved parents of a stillborn.创建死后检查决策辅助工具:死胎父母的建议。
Patient Educ Couns. 2023 Jul;112:107746. doi: 10.1016/j.pec.2023.107746. Epub 2023 Apr 11.
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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.基因组学尸检以鉴定妊娠丢失和围产期死亡的根本原因。
Nat Med. 2023 Jan;29(1):180-189. doi: 10.1038/s41591-022-02142-1. Epub 2023 Jan 19.
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Obstet Gynecol. 2022 Nov 1;140(5):869-873. doi: 10.1097/AOG.0000000000004965. Epub 2022 Oct 5.
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