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Diagnostic utility of microsatellite genotyping for molar pregnancy testing.
MedLine Citation:
PMID:  23276175     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Context.-Molecular genotyping by analysis of DNA microsatellites, also known as short tandem repeats (STRs), is an established method for diagnosing and classifying hydatidiform mole. Distinction of both complete hydatidiform mole and partial hydatidiform mole from nonmolar specimens is relevant for clinical management owing to differences in risk for persistent gestational trophoblastic disease. Objective.-To determine the technical performance of microsatellite genotyping by using a commercially available multiplex assay, and to describe the application of additional methods to confirm other genetic abnormalities detected by the genotyping assay. Design.-Microsatellite genotyping data on 102 cases referred for molar pregnancy testing are presented. A separate panel of mini STR markers, flow cytometry, fluorescence in situ hybridization, and p57 immunohistochemistry were used to characterize cases with other incidental genetic abnormalities. Results.-Forty-eight cases were classified as hydatidiform mole (31, complete hydatidiform mole; 17, partial hydatidiform mole). Genotyping also revealed 11 cases of suspected trisomy and 1 case of androgenetic/biparental mosaicism. Trisomy for selected chromosomes (13, 16, 18, and 21) was confirmed in all cases by using a panel of mini STR markers. Conclusions.-This series illustrates the utility of microsatellite genotyping as a stand-alone method for accurate classification of hydatidiform mole. Other genetic abnormalities may be detected by genotyping; confirmation of the suspected abnormality requires additional testing.
Authors:
Larissa V Furtado; Christian N Paxton; Mohamed A Jama; Sheryl R Tripp; Andrew R Wilson; Elaine Lyon; Elke A Jarboe; Harshwardhan M Thaker; Katherine B Geiersbach
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Archives of pathology & laboratory medicine     Volume:  137     ISSN:  1543-2165     ISO Abbreviation:  Arch. Pathol. Lab. Med.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-01-01     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7607091     Medline TA:  Arch Pathol Lab Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  55-63     Citation Subset:  AIM; IM    
Affiliation:
From the Department of Pathology, University of Utah School of Medicine, Salt Lake City (Drs Geiersbach, Furtado, Lyon, and Jarboe); ARUP Laboratories, Salt Lake City, Utah (Drs Geiersbach and Lyon); the Department of Pathology, ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah (Dr Paxton, Messrs Jama and Wilson, and Ms Tripp); and the Department of Pathology, Mount Sinai School of Medicine, New York, New York (Dr Thaker).
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