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BMJ Case Rep. 2024 Jul 29;17(7):e260488. doi: 10.1136/bcr-2024-260488.
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CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.CIAO1 和 MMS19 缺陷:一种由细胞质 Fe-S 簇蛋白组装障碍引起的致死性神经退行性表型。
Genet Med. 2024 Jun;26(6):101104. doi: 10.1016/j.gim.2024.101104. Epub 2024 Feb 24.
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Genomic data in the All of Us Research Program.全美国研究计划中的基因组数据。
Nature. 2024 Mar;627(8003):340-346. doi: 10.1038/s41586-023-06957-x. Epub 2024 Feb 19.
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Resolving fetal hydrops - A rare entity.解析胎儿水肿——一种罕见的病症。
Eur J Med Genet. 2023 Dec;66(12):104888. doi: 10.1016/j.ejmg.2023.104888. Epub 2023 Nov 20.
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Hypoplastic Left Heart Syndrome: Signaling & Molecular Perspectives, and the Road Ahead.左心发育不良综合征:信号与分子视角,以及未来之路。
Int J Mol Sci. 2023 Oct 17;24(20):15249. doi: 10.3390/ijms242015249.
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Causes of death in children with congenital anomalies up to age 10 in eight European countries.在八个欧洲国家,10 岁以下先天性畸形儿童的死因。
BMJ Paediatr Open. 2023 Jun;7(1). doi: 10.1136/bmjpo-2022-001617.
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Congenital diaphragmatic hernia in a middle-income country: Persistent high lethality during a 12-year period.先天性膈疝在中等收入国家:12 年间持续高病死率。
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8
Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect.胎儿的肾脏和心脏畸形是否提示肉碱棕榈酰基转移酶 II 缺乏症?一种罕见的致死性脂肪酸氧化缺陷。
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Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole-exome sequencing: A rare case report and literature review.采用三核苷酸全外显子组测序对新型 NSDHL 基因突变致男性复发性死亡的病因鉴定:一例罕见病例报告及文献复习。
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10
Prenatal and Early Postnatal Outcomes for Fetuses with Anatomic or Functional Renal Agenesis.患有解剖学或功能性肾发育不全胎儿的产前及产后早期结局
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围产期研究中“致死性”或“危及生命”术语的当代用法。

Contemporary uses of "lethal" or "life limiting" terminology in perinatal research.

作者信息

Gatta Luke A, McCarthy Allison M, Osmundson Sarah S

机构信息

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Vanderbilt University School of Medicine, Medical Center North.

Center for Biomedical Ethics and Society, Vanderbilt University School of Medicine.

出版信息

Curr Opin Obstet Gynecol. 2025 Apr 1;37(2):49-54. doi: 10.1097/GCO.0000000000001010. Epub 2024 Dec 30.

DOI:10.1097/GCO.0000000000001010
PMID:39773661
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11867853/
Abstract

PURPOSE OF REVIEW

A life-limiting fetal diagnosis (LLD) refers to a medical condition identified during pregnancy that is expected to lead to stillbirth, preclude ex utero survival, or significantly reduce neonatal life expectancy. The terms 'lethal' or 'life-limiting' are used to prognosticate early death for various anatomic or physiologic causes, although the expected timeframe is nonspecific. The purpose of this manuscript is to review how the terms 'lethal' or 'life limiting' are used in contemporary perinatal research.

RECENT FINDINGS

Depending on the study design, 'life-limiting' is defined either prior to data analysis (such as prospective cohort studies), or after outcomes are assessed (such as case series). When 'life-limiting' is defined prior to data analysis, study-specific specific definitions may include timeframes from birth to death, probability of neonatal mortality, or a list of diagnoses based off billing codes.

SUMMARY

Professional societies have guidelines to standardize the reporting of vital statistics, including early death. While these fall short of defining LLDs comprehensively, they present an opportunity for more specific prognostication following prenatal diagnosis, which may improve research standardization to facilitate a clearer understanding of LLDs in clinical practice.

摘要

综述目的

致死性胎儿诊断(LLD)是指孕期发现的一种医学状况,预计会导致死产、无法宫外存活或显著缩短新生儿预期寿命。“致死性”或“危及生命”这些术语用于预测因各种解剖或生理原因导致的早期死亡,尽管预期时间范围并不明确。本手稿的目的是综述“致死性”或“危及生命”这些术语在当代围产期研究中的使用情况。

最新发现

根据研究设计,“危及生命”要么在数据分析前定义(如前瞻性队列研究),要么在评估结果后定义(如病例系列研究)。当在数据分析前定义“危及生命”时,特定研究的定义可能包括从出生到死亡的时间范围、新生儿死亡概率或基于计费代码的诊断列表。

总结

专业协会有标准化生命统计报告的指南,包括早期死亡报告。虽然这些指南未能全面定义致死性胎儿诊断,但它们为产前诊断后的更具体预后提供了机会,这可能会提高研究标准化程度,以便在临床实践中更清楚地理解致死性胎儿诊断。