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

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)10-20
Number of pages11
JournalPediatric and Developmental Pathology
Volume17
Issue number1
DOIs
StatePublished - Jan 1 2014

Keywords

  • Autopsy
  • Dilation and evacuation
  • Genetic testing
  • Lethal skeletal dysplasia
  • Short long bones

ASJC Scopus subject areas

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

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