P126: Detection rate and family-centered procedure of postmortem genetic testing for sudden unexplained death in the young: Systematic review and meta-analysis*

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Authors: Kanako Koike Fukushima, Takahiro Itaya, Yuko Kamiakito, Seiko Ohno, Hirokazu Kotani, Shoji Tsuji
Cited by: 1

Abstract

Postmortem genetic testing (PMGT) is a key approach for identifying genetic causes of sudden unexpected death in the young (SUDY). However, variations in study design, inclusion criteria, sample selection methods, and genetic analysis strategies make comparison of findings and assessment of the detection rate of PMGT difficult. Also, the implementation of PMGT varies across studies and regions, including pre-test explanation or consent and post-test genetic counseling or cascade testing. We conducted a systematic review and meta-analysis to estimate the detection rate of pathogenic variants identified by PMGT in SUDY cases aged 1–50 years, and to characterize contemporary PMGT practice, focusing on reporting of family-centered procedure before and after testing.

Fields of Study & Subjects

BRCA gene mutations in cancer Genetic Neurodegenerative Diseases Cardiac electrophysiology and arrhythmias

Publication details

Journal / source
Genetics in Medicine Open
Publisher
Elsevier BV
Volume
4
Pages
103620–103620
Publication date
1 January 2026
Language
EN