Pathologic Diagnosis of Achondrogenesis Type 2 in a Fragmented Fetus: Case Report and Evidence-Based Differential Diagnostic Approach in the Early Midtrimester

Author:

Weisman Paul S.1,Kashireddy Papreddy V.1,Ernst Linda M.1

Affiliation:

1. Department of Pathology, Northwestern Memorial Hospital, Northwestern University Feinberg School of Medicine, Chicago, IL, USA

Abstract

As a group, lethal genetic skeletal disorders (GSDs) usually result in death within the perinatal period. Because lethal GSDs are often ultrasonographically detectible by early midtrimester, dilation and evacuation (D&E) is the method of choice for elective termination of pregnancy in many institutions. However, because the diagnosis of the lethal GSDs relies heavily upon radiologic examination of fetal remains, reaching an accurate diagnosis in this setting can be challenging. We report an autopsy case of a fetus delivered by D&E at 15 4/7 weeks gestation with radiologic, histologic, and genetic findings compatible with achondrogenesis type 2 and discuss an evidence-based differential diagnostic approach to lethal GSDs terminated by early midtrimester D&E.

Publisher

SAGE Publications

Subject

General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology, and Child Health

Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. The Skeletal System;Keeling's Fetal and Neonatal Pathology;2022

2. Achondrogenesis, Hypochondrogenesis;Diagnostic Imaging: Obstetrics;2016

3. The Skeletal System;Keeling’s Fetal and Neonatal Pathology;2015

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