{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T06:45:02Z","timestamp":1782456302021,"version":"3.54.5"},"reference-count":72,"publisher":"Archives of Pathology and Laboratory Medicine","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,1]]},"abstract":"\n Context<\/jats:italic>\n .\u2014Molecular 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.\n <\/jats:p>\n \n Objective<\/jats:italic>\n .\u2014To 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.\n <\/jats:p>\n \n Design<\/jats:italic>\n .\u2014Microsatellite 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.\n <\/jats:p>\n \n Results<\/jats:italic>\n .\u2014Forty-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.\n <\/jats:p>\n \n Conclusions<\/jats:italic>\n .\u2014This 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.\n <\/jats:p>","DOI":"10.5858\/arpa.2012-0047-oa","type":"journal-article","created":{"date-parts":[[2012,12,31]],"date-time":"2012-12-31T14:51:17Z","timestamp":1356965477000},"page":"55-63","source":"Crossref","is-referenced-by-count":38,"title":["Diagnostic Utility of Microsatellite Genotyping for Molar Pregnancy Testing"],"prefix":"10.5858","volume":"137","author":[{"given":"Larissa V.","family":"Furtado","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian N.","family":"Paxton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed A.","family":"Jama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheryl R.","family":"Tripp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew R.","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Lyon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elke A.","family":"Jarboe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harshwardhan M.","family":"Thaker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine B.","family":"Geiersbach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3906","reference":[{"key":"i1543-2165-137-1-55-b01","series-title":"Gestational Trophoblastic Disease: Diagnostic and Molecular Genetic Pathology","author":"Hui\n P .","year":"2012","unstructured":"Hui\n P . \n \n Gestational Trophoblastic Disease: Diagnostic and Molecular Genetic Pathology . New York, NY : Humana Press;2012 ."},{"issue":"1","key":"i1543-2165-137-1-55-b02","series-title":"Fetal Pediatr Pathol","first-page":"1","article-title":"Histopathological diagnosis of hydatidiform mole: contemporary features and clinical implications","volume":"29","author":"Sebire\n NJ .","year":"2010","unstructured":"Sebire\n NJ . \n \n Histopathological diagnosis of hydatidiform mole: contemporary features and clinical implications . Fetal Pediatr Pathol . 2010 ;29(1) :1 \u201316 ."},{"issue":"6","key":"i1543-2165-137-1-55-b03","series-title":"Obstet Gynecol","first-page":"1365","article-title":"ACOG Practice Bulletin #53: diagnosis and treatment of gestational trophoblastic disease","volume":"103","year":"2004;","unstructured":"Committee on Practice Bulletins-Gynecology, American College of Obstetricians and Gynecologists . ACOG Practice Bulletin #53: diagnosis and treatment of gestational trophoblastic disease . Obstet Gynecol . 2004;103(6) :1365 \u20131377 ."},{"issue":"6","key":"i1543-2165-137-1-55-b04","series-title":"Am J Obstet Gynecol","first-page":"531","article-title":"Gestational trophoblastic disease I: epidemiology, pathology, clinical presentation and diagnosis of gestational trophoblastic disease, and management of hydatidiform mole","volume":"203","author":"Lurain\n JR .","year":"2010","unstructured":"Lurain\n JR . \n \n Gestational trophoblastic disease I: epidemiology, pathology, clinical presentation and diagnosis of gestational trophoblastic disease, and management of hydatidiform mole . Am J Obstet Gynecol . 2010 ;203(6) :531 \u2013539 ."},{"issue":"3","key":"i1543-2165-137-1-55-b05","series-title":"Nat Genet","first-page":"300","article-title":"Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans","volume":"38","author":"Murdoch\n S ,","year":"2006;","unstructured":"Murdoch\n S , \n \n Djuric\n U , \n \n Mazhar\n B , \n et al\n . Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans . Nat Genet . 2006;38(3) :300 \u2013302 ."},{"issue":"3","key":"i1543-2165-137-1-55-b06","series-title":"Am J Hum Genet","first-page":"451","article-title":"Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte","volume":"89","author":"Parry\n DA ,","year":"2011;","unstructured":"Parry\n DA , \n \n Logan\n CV , \n \n Hayward\n BE , \n et al\n . Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte . 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Int J Gynecol Pathol . 1993;12(4) :315 \u2013323 ."},{"issue":"7","key":"i1543-2165-137-1-55-b13","series-title":"Am J Surg Pathol","first-page":"942","article-title":"Interobserver and intraobserver variability in the diagnosis of hydatidiform mole","volume":"29","author":"Fukunaga\n M ,","year":"2005","unstructured":"Fukunaga\n M , \n \n Katabuchi\n H , \n \n Nagasaka\n T , \n \n Mikami\n Y , \n \n Minamiguchi\n S , \n \n Lage\n JM . \n \n Interobserver and intraobserver variability in the diagnosis of hydatidiform mole . Am J Surg Pathol . 2005 ;29(7) :942 \u2013947 ."},{"issue":"26","key":"i1543-2165-137-1-55-b14","series-title":"Hum Mol Genet","first-page":"3267","article-title":"The maternally transcribed gene p57(KIP2) (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles","volume":"11","author":"Fisher\n RA ,","year":"2002;","unstructured":"Fisher\n RA , \n \n Hodges\n MD , \n \n Rees\n HC , \n et al\n . The maternally transcribed gene p57(KIP2) (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles . Hum Mol Genet . 2002;11(26) :3267 \u20133272 ."},{"issue":"6","key":"i1543-2165-137-1-55-b15","series-title":"Am J Surg Pathol","first-page":"805","article-title":"Diagnosis and subclassification of hydatidiform moles using p57 immunohistochemistry and molecular genotyping: validation and prospective analysis in routine and consultation practice settings with development of an algorithmic approach","volume":"33","author":"McConnell\n TG ,","year":"2009","unstructured":"McConnell\n TG , \n \n Murphy\n KM , \n \n Hafez\n M , \n \n Vang\n R , \n \n Ronnett\n BM . \n \n Diagnosis and subclassification of hydatidiform moles using p57 immunohistochemistry and molecular genotyping: validation and prospective analysis in routine and consultation practice settings with development of an algorithmic approach . Am J Surg Pathol . 2009 ;33(6) :805 \u2013817 ."},{"issue":"2","key":"i1543-2165-137-1-55-b16","series-title":"Am J Clin Pathol","first-page":"196","article-title":"Comparison of fluorescence in situ hybridization, p57 immunostaining, flow cytometry, and digital image analysis for diagnosing molar and nonmolar products of conception","volume":"133","author":"Kipp\n BR ,","year":"2010;","unstructured":"Kipp\n BR , \n \n Ketterling\n RP , \n \n Oberg\n TN , \n et al\n . Comparison of fluorescence in situ hybridization, p57 immunostaining, flow cytometry, and digital image analysis for diagnosing molar and nonmolar products of conception . Am J Clin Pathol . 2010;133(2) :196 \u2013204 ."},{"issue":"1","key":"i1543-2165-137-1-55-b17","series-title":"Mol Diagn","first-page":"11","article-title":"Molecular genetic testing from paraffin-embedded tissue distinguishes nonmolar hydropic abortion from hydatidiform mole","volume":"4","author":"Bell\n KA ,","year":"1999","unstructured":"Bell\n KA , \n \n Van Deerlin\n V , \n \n Addya\n K , \n \n Clevenger\n CV , \n \n Van Deerlin\n PG , \n \n Leonard\n DG . \n \n Molecular genetic testing from paraffin-embedded tissue distinguishes nonmolar hydropic abortion from hydatidiform mole . Mol Diagn . 1999 ;4(1) :11 \u201319 ."},{"issue":"6","key":"i1543-2165-137-1-55-b18","series-title":"J Mol Diagn","first-page":"598","article-title":"Molecular genotyping of hydatidiform moles: analytic validation of a multiplex short tandem repeat assay","volume":"11","author":"Murphy\n KM ,","year":"2009","unstructured":"Murphy\n KM , \n \n McConnell\n TG , \n \n Hafez\n MJ , \n \n Vang\n R , \n \n Ronnett\n BM . \n \n Molecular genotyping of hydatidiform moles: analytic validation of a multiplex short tandem repeat assay . J Mol Diagn . 2009 ;11(6) :598 \u2013605 ."},{"issue":"4","key":"i1543-2165-137-1-55-b19","series-title":"Obstet Gynecol","first-page":"784","article-title":"Precise DNA genotyping diagnosis of hydatidiform mole","volume":"115","author":"Lipata\n F ,","year":"2010;","unstructured":"Lipata\n F , \n \n Parkash\n V , \n \n Talmor\n M , \n et al\n . Precise DNA genotyping diagnosis of hydatidiform mole . Obstet Gynecol . 2010;115(4) :784 \u2013794 ."},{"issue":"5, pt 1","key":"i1543-2165-137-1-55-b20","series-title":"Am J Obstet Gynecol","first-page":"1270","article-title":"A prospective genetic study of complete and partial hydatidiform moles","volume":"164","author":"Lawler\n SD ,","year":"1991;","unstructured":"Lawler\n SD , \n \n Fisher\n RA , \n \n Dent\n J . \n \n A prospective genetic study of complete and partial hydatidiform moles . Am J Obstet Gynecol . 1991;164(5, pt 1) :1270 \u20131277 ."},{"issue":"2","key":"i1543-2165-137-1-55-b21","series-title":"Hum Reprod","first-page":"243","article-title":"Is genetic analysis useful in the routine management of hydatidiform mole?","volume":"18","author":"Petignat\n P ,","year":"2003","unstructured":"Petignat\n P , \n \n Billieux\n MH , \n \n Blouin\n JL , \n \n Dahoun\n S , \n \n Vassilakos\n P . \n \n Is genetic analysis useful in the routine management of hydatidiform mole?\n Hum Reprod . 2003 ;18(2) :243 \u2013249 ."},{"issue":"3","key":"i1543-2165-137-1-55-b22","series-title":"Am J Surg Pathol","first-page":"445","article-title":"Genotypic analysis of hydatidiform mole: an accurate and practical method of diagnosis","volume":"32","author":"Bifulco\n C ,","year":"2008","unstructured":"Bifulco\n C , \n \n Johnson\n C , \n \n Hao\n L , \n \n Kermalli\n H , \n \n Bell\n S , \n \n Hui\n P . \n \n Genotypic analysis of hydatidiform mole: an accurate and practical method of diagnosis . 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Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis . Lancet . 2001;358(9287) :1057 \u20131061 ."},{"issue":"13","key":"i1543-2165-137-1-55-b27","series-title":"Prenat Diagn","first-page":"1214","article-title":"OmniPlex\u2014a new QF-PCR assay for prenatal diagnosis of common aneuploidies based on evaluation of the heterozygosity of short tandem repeat loci in the Czech population","volume":"28","author":"Putzova\n M ,","year":"2008;","unstructured":"Putzova\n M , \n \n Pecnova\n L , \n \n Dvorakova\n L , \n \n Soldatova\n I , \n \n Goetz\n P , \n \n Stejskal\n D . \n \n OmniPlex\u2014a new QF-PCR assay for prenatal diagnosis of common aneuploidies based on evaluation of the heterozygosity of short tandem repeat loci in the Czech population . 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Prenat Diagn . 2007 ;27(13) :1238 \u20131244 ."},{"issue":"4","key":"i1543-2165-137-1-55-b32","series-title":"Hum Reprod","first-page":"1114","article-title":"Origin and outcome of pregnancies affected by androgenetic\/biparental chimerism","volume":"22","author":"Robinson\n WP ,","year":"2007","unstructured":"Robinson\n WP , \n \n Lauzon\n JL , \n \n Innes\n AM , \n \n Lim\n K , \n \n Arsovska\n S , \n \n McFadden\n DE . \n \n Origin and outcome of pregnancies affected by androgenetic\/biparental chimerism . Hum Reprod . 2007 ;22(4) :1114 \u20131122 ."},{"issue":"2","key":"i1543-2165-137-1-55-b33","series-title":"Genet Med","first-page":"140","article-title":"Prospective validation of quantitative fluorescent polymerase chain reaction for rapid detection of common aneuploidies","volume":"13","author":"Allingham-Hawkins\n DJ ,","year":"2011;","unstructured":"Allingham-Hawkins\n DJ , \n \n Chitayat\n D , \n \n Cirigliano\n V , \n et al\n . Prospective validation of quantitative fluorescent polymerase chain reaction for rapid detection of common aneuploidies . Genet Med . 2011;13(2) :140 \u2013147 ."},{"issue":"2","key":"i1543-2165-137-1-55-b34","series-title":"Int J Gynecol Pathol","first-page":"101","article-title":"Hydatidiform moles: ancillary techniques to refine diagnosis","volume":"30","author":"Ronnett\n BM ,","year":"2011","unstructured":"Ronnett\n BM , \n \n DeScipio\n C , \n \n Murphy\n KM . \n \n Hydatidiform moles: ancillary techniques to refine diagnosis . Int J Gynecol Pathol . 2011 ;30(2) :101 \u2013116 ."},{"issue":"11","key":"i1543-2165-137-1-55-b35","series-title":"Pathol Int","first-page":"810","article-title":"Placental mesenchymal dysplasia initially diagnosed as partial mole","volume":"53","author":"Matsui\n H ,","year":"2003;","unstructured":"Matsui\n H , \n \n Iitsuka\n Y , \n \n Yamazawa\n K , \n et al\n . Placental mesenchymal dysplasia initially diagnosed as partial mole . Pathol Int . 2003;53(11) :810 \u2013813 ."},{"issue":"1","key":"i1543-2165-137-1-55-b36","series-title":"Hum Pathol","first-page":"63","article-title":"P57KIP2 immunostaining and molecular cytogenetics: combined approach aids in diagnosis of morphologically challenging cases with molar phenotype and in detecting androgenetic cell lines in mosaic\/chimeric conceptions","volume":"39","author":"Hoffner\n L ,","year":"2008","unstructured":"Hoffner\n L , \n \n Dunn\n J , \n \n Esposito\n N , \n \n Macpherson\n T , \n \n Surti\n U . \n \n P57KIP2 immunostaining and molecular cytogenetics: combined approach aids in diagnosis of morphologically challenging cases with molar phenotype and in detecting androgenetic cell lines in mosaic\/chimeric conceptions . Hum Pathol . 2008 ;39(1) :63 \u201372 ."},{"key":"i1543-2165-137-1-55-b01","series-title":"Gestational Trophoblastic Disease: Diagnostic and Molecular Genetic Pathology","author":"Hui\n P .","year":"2012","unstructured":"Hui\n P . \n \n Gestational Trophoblastic Disease: Diagnostic and Molecular Genetic Pathology . New York, NY : Humana Press;2012 ."},{"issue":"1","key":"i1543-2165-137-1-55-b02","series-title":"Fetal Pediatr Pathol","first-page":"1","article-title":"Histopathological diagnosis of hydatidiform mole: contemporary features and clinical implications","volume":"29","author":"Sebire\n NJ .","year":"2010","unstructured":"Sebire\n NJ . \n \n Histopathological diagnosis of hydatidiform mole: contemporary features and clinical implications . Fetal Pediatr Pathol . 2010 ;29(1) :1 \u201316 ."},{"issue":"6","key":"i1543-2165-137-1-55-b03","series-title":"Obstet Gynecol","first-page":"1365","article-title":"ACOG Practice Bulletin #53: diagnosis and treatment of gestational trophoblastic disease","volume":"103","year":"2004;","unstructured":"Committee on Practice Bulletins-Gynecology, American College of Obstetricians and Gynecologists . ACOG Practice Bulletin #53: diagnosis and treatment of gestational trophoblastic disease . Obstet Gynecol . 2004;103(6) :1365 \u20131377 ."},{"issue":"6","key":"i1543-2165-137-1-55-b04","series-title":"Am J Obstet Gynecol","first-page":"531","article-title":"Gestational trophoblastic disease I: epidemiology, pathology, clinical presentation and diagnosis of gestational trophoblastic disease, and management of hydatidiform mole","volume":"203","author":"Lurain\n JR .","year":"2010","unstructured":"Lurain\n JR . \n \n Gestational trophoblastic disease I: epidemiology, pathology, clinical presentation and diagnosis of gestational trophoblastic disease, and management of hydatidiform mole . Am J Obstet Gynecol . 2010 ;203(6) :531 \u2013539 ."},{"issue":"3","key":"i1543-2165-137-1-55-b05","series-title":"Nat Genet","first-page":"300","article-title":"Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans","volume":"38","author":"Murdoch\n S ,","year":"2006;","unstructured":"Murdoch\n S , \n \n Djuric\n U , \n \n Mazhar\n B , \n et al\n . Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans . Nat Genet . 2006;38(3) :300 \u2013302 ."},{"issue":"3","key":"i1543-2165-137-1-55-b06","series-title":"Am J Hum Genet","first-page":"451","article-title":"Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte","volume":"89","author":"Parry\n DA ,","year":"2011;","unstructured":"Parry\n DA , \n \n Logan\n CV , \n \n Hayward\n BE , \n et al\n . Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte . Am J Hum Genet . 2011;89(3) :451 \u2013458 ."},{"issue":"suppl A","key":"i1543-2165-137-1-55-b07","series-title":"Placenta","first-page":"S111","article-title":"Genomic imprinting in gestational trophoblastic disease\u2014a review","volume":"24","author":"Fisher\n RA ,","year":"2003;","unstructured":"Fisher\n RA , \n \n Hodges\n MD . \n \n Genomic imprinting in gestational trophoblastic disease\u2014a review . Placenta . 2003;24(suppl A) :S111 \u2013S118 ."},{"issue":"6","key":"i1543-2165-137-1-55-b08","series-title":"Am J Hum Genet","first-page":"1807","article-title":"Parental origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and association with the partial hydatidiform mole","volume":"66","author":"Zaragoza\n MV ,","year":"2000","unstructured":"Zaragoza\n MV , \n \n Surti\n U , \n \n Redline\n RW , \n \n Millie\n E , \n \n Chakravarti\n A , \n \n Hassold\n TJ . \n \n Parental origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and association with the partial hydatidiform mole . 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