医学
多学科方法
多学科团队
尸检
异常(物理)
重症监护医学
医学物理学
病理
护理部
社会科学
社会学
物理
凝聚态物理
作者
Elizabeth Wall,Emily Petley,Fionnuala Mone,Samantha Doyle,Lorraine Hartles-Spencer,Stephanie Allen,Jennifer D. Castleman,Tamás Marton,Denise Williams
摘要
In the West Midlands regional genetics service, cases of perinatal death with a possible genetic diagnosis are evaluated by the perinatal pathology genetic multidisciplinary team (MDT). The MDT assesses autopsy findings and suggests appropriate genomic assessment. The objective of this retrospective service evaluation was to determine the clinical utility of the MDT in assessing perinatal deaths associated with structural anomaly. This is the first evaluation since the introduction of whole-genome and whole-exome sequencing in routine clinical care.
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