Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: case report and evidence-based differential diagnostic approach in the early midtrimester.

[achondroplasia]

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 .

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achondroplasia

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