title: Diagnostic utility of microsatellite genotyping for molar pregnancy testing.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.affiliation: Department of Pathology, University of Utah School of Medicine, Salt Lake City 84108, USA.
authors.forename: Larissa V
authors.initials: LV
authors.lastname: Furtado
authors.forename: Christian N
authors.initials: CN
authors.lastname: Paxton
authors.forename: Mohamed A
authors.initials: MA
authors.lastname: Jama
authors.forename: Sheryl R
authors.initials: SR
authors.lastname: Tripp
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Wilson
authors.forename: Elaine
authors.initials: E
authors.lastname: Lyon
authors.forename: Elke A
authors.initials: EA
authors.lastname: Jarboe
authors.forename: Harshwardhan M
authors.initials: HM
authors.lastname: Thaker
authors.forename: Katherine B
authors.initials: KB
authors.lastname: Geiersbach
mesh_terms: D001419:Bacteria; D005260:Female; D005434:Flow Cytometry; D060005:Genotyping Techniques / Q000379:methods*; D006801:Humans; D006828:Hydatidiform Mole / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D018895:Microsatellite Repeats; D009030:Mosaicism; D011247:Pregnancy; D013194:Staining and Labeling; D014314:Trisomy; D014594:Uterine Neoplasms / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*