دورية أكاديمية
A systematic review to assess the utility of genomic autopsy using exome or genome sequencing in cases of congenital anomalies and perinatal death.
| العنوان: | A systematic review to assess the utility of genomic autopsy using exome or genome sequencing in cases of congenital anomalies and perinatal death. |
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| المؤلفون: | Schubert C; Adelaide Health Technology Assessment (AHTA), School of Public Health, University of Adelaide, Adelaide, SA, Australia. Electronic address: camille.schubert@adelaide.edu.au., Milverton J; Adelaide Health Technology Assessment (AHTA), School of Public Health, University of Adelaide, Adelaide, SA, Australia., Goodall S; Centre for Health Economics Research and Evaluation, Faculty of Health, University of Technology Sydney, Sydney, NSW, Australia., Merlin T; Adelaide Health Technology Assessment (AHTA), School of Public Health, University of Adelaide, Adelaide, SA, Australia. |
| المصدر: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jul; Vol. 26 (7), pp. 101159. Date of Electronic Publication: 2024 May 03. |
| نوع المنشور: | Systematic Review; Journal Article; Meta-Analysis; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2022- : [New York] : Elsevier Original Publication: Baltimore, MD : Lippincott, Williams & Wilkins, c1998- |
| مواضيع طبية MeSH: | Congenital Abnormalities*/genetics , Congenital Abnormalities*/diagnosis , Congenital Abnormalities*/pathology , Autopsy* , Perinatal Death*, Humans ; Female ; Pregnancy ; Exome Sequencing/methods ; Exome/genetics ; Genomics/methods ; Whole Genome Sequencing ; Fetal Death ; Prenatal Diagnosis/methods |
| مستخلص: | Purpose: Exome or genome sequencing (ES or GS) can identify genetic causes of otherwise unexplained congenital anomaly and perinatal death (PND) but is not routine practice. The evidence base for "genomic autopsy" after termination of pregnancy for fetal anomaly (TOPFA) and PND has been synthesized to determine the value of this investigation. Methods: We conducted a systematic review and meta-analysis of studies meeting prespecified inclusion criteria and containing ≥10 cases of TOPFA or PND (with or without major congenital abnormality), in which ES or GS was conducted. We determined test performance, including diagnostic yield, accuracy, and reliability. We also reported outcomes associated with clinical utility and harms, where described. Results: From 2245 potentially eligible studies, 32 publications were eligible and had data extracted, representing 2120 cases that could be meta-analyzed. No diagnostic accuracy or comparative studies were identified, although some analysis of concordance between different ES/GS methodologies could be performed. Studies reporting parent-related outcomes or long-term follow-up did not do so in a systematic or quantifiable manner. Conclusion: Evidence suggests that approximately one-fourth to one-third of fetal losses associated with TOPFA or unexplained PND are associated with a genetic cause identifiable on ES or GS-albeit this estimate varies depending on phenotypic and background risk factors. Despite the large body of evidence on ES and GS, little research has attempted to validate the accuracy of testing, nor measure the clinical or societal outcomes in families that follow the diagnostic investigation in this context. Competing Interests: Conflict of Interest Camille Schubert’s salary was partially funded by the Genomic Autopsy Study (Australian government MRFF grant funded research). All other authors declare no conflicts of interest. (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.) |
| فهرسة مساهمة: | Keywords: Exome sequencing; Fetal anomaly; Fetal autopsy; Genomic autopsy; Perinatal death |
| تواريخ الأحداث: | Date Created: 20240505 Date Completed: 20240707 Latest Revision: 20240707 |
| رمز التحديث: | 20240707 |
| DOI: | 10.1016/j.gim.2024.101159 |
| PMID: | 38704678 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1530-0366 |
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| DOI: | 10.1016/j.gim.2024.101159 |