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Are non-invasive or minimally invasive autopsy techniques for detecting cause of death in prenates, neonates and infants accurate? A systematic review of diagnostic test accuracy

Lookup NU author(s): Hannah O'Keefe, Rebekka Shenfine, Melissa Brown, Fiona Beyer, Professor Judith Rankin



This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0).


Objectives: To assess the diagnostic accuracy of non-invasive or minimally invasive autopsy techniques in deaths under 1 year of age. Design: This is a systematic review of diagnostic test accuracy. The protocol is registered on PROSPERO. Participants: Deaths from conception to one adjusted year of age. Search methods: MEDLINE (Ovid), EMBASE (Ovid), CINAHL (EBSCO), the Cochrane Library, Scopus and grey literature sources were searched from inception to November 2021. Diagnostic tests: Non-invasive or minimally invasive diagnostic tests as an alternative to traditional autopsy. Data collection and analysis: Studies were included if participants were under one adjusted year of age, with index tests conducted prior to the reference standard. Data were extracted from eligible studies using piloted forms. Risk of bias was assessed using Quality Assessment of Diagnostic Accuracy Studies-2. A narrative synthesis was conducted following the Synthesis without Meta-Analysis guidelines. Vote counting was used to assess the direction of effect. Main outcome measures: Direction of effect was expressed as percentage of patients per study. Findings: We included 54 direct evidence studies (68 articles/trials), encompassing 3268 cases and eight index tests. The direction of effect was positive for postmortem ultrasound and antenatal echography, although with varying levels of success. Conversely, the direction of effect was against virtual autopsy. For the remaining tests, the direction of effect was inconclusive. A further 134 indirect evidence studies (135 articles/trials) were included, encompassing 6242 perinatal cases. The addition of these results had minimal impact on the direct findings yet did reveal other techniques, which may be favourable alternatives to autopsy. Seven trial registrations were included but yielded no results. Conclusions: Current evidence is insufficient to make firm conclusions about the generalised use of non-invasive or minimally invasive autopsy techniques in relation to all perinatal population groups. PROSPERO registration number CRD42021223254.

Publication metadata

Author(s): O'Keefe H, Shenfine R, Brown M, Beyer F, Rankin J

Publication type: Article

Publication status: Published

Journal: BMJ Open

Year: 2023

Volume: 13

Issue: 1

Online publication date: 06/01/2023

Acceptance date: 02/12/2022

Date deposited: 18/10/2023

ISSN (print): 2044-6055

ISSN (electronic): 2044-6055

Publisher: BMJ Publishing Group


DOI: 10.1136/bmjopen-2022-064774


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Funder referenceFunder name
National Institute of Health Research Applied Research Collaboration North East and North Cumbria