title: Molecular genetic studies of complete hydatidiform moles.
abstract: Complete hydatidiform moles (CHM) are abnormal pregnancies with no fetal development resulting from having two paternal genomes with no maternal contribution. It is important to distinguish CHM from partial hydatidiform moles, and non-molar abortuses, due to the increased risk of gestational trophoblastic neoplasia. We evaluated a series of products of conception (POC) (n=643) investigated by genome-wide microarray comparative genomic hybridisation (CGH) with the aim of refining our strategy for the identification of complete moles. Among 32 suspected molar pregnancies investigated by STR genotyping to supplement microarray CGH testing, we found 31.3% (10/32) CHM; all identified among 3.6% (10/272) early first trimester POC. We suggest that when using microarray CGH that genotyping using targeted STR analysis should be performed for all POC referrals to aid in the identification of CHM.
authors.affiliation: Sydney Genome Diagnostics, The Children's Hospital at Westmead, Sydney, Australia.
authors.forename: Louise
authors.initials: L
authors.lastname: Carey
authors.affiliation: Sydney Genome Diagnostics, The Children's Hospital at Westmead, Sydney, Australia.
authors.forename: Benjamin M
authors.initials: BM
authors.lastname: Nash
authors.affiliation: Sydney Genome Diagnostics, The Children's Hospital at Westmead, Sydney, Australia.
authors.forename: Dale C
authors.initials: DC
authors.lastname: Wright
keywords: Complete hydatidiform mole (CHM); Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR); genotyping; molar pregnancy; products of conception (POC)
references.citation: J Reprod Med. 1994 Mar;39(3):155-62
references.pmid: 8035370
references.citation: BJOG. 2003 Jan;110(1):22-6
references.pmid: 12504931
references.citation: Am J Obstet Gynecol. 1991 May;164(5 Pt 1):1270-7
references.pmid: 1674641
references.citation: Am J Hum Genet. 2000 May;66(5):1516-21
references.pmid: 10741955
references.citation: Nat Genet. 2006 Mar;38(3):300-2
references.pmid: 16462743
references.citation: Hum Pathol. 2004 Jun;35(6):752-8
references.pmid: 15188143
references.citation: Semin Diagn Pathol. 1993 Aug;10(3):267-74
references.pmid: 8210776
references.citation: Nature. 1977 Aug 18;268(5621):633-4
references.pmid: 561314
references.citation: Hum Reprod. 2003 Feb;18(2):236-42
references.pmid: 12571155
references.citation: Expert Rev Mol Diagn. 2010 Nov;10(8):1023-34
references.pmid: 21080819
references.citation: Nucleic Acids Res. 1988 Feb 11;16(3):1215
references.pmid: 3344216
references.citation: Arch Pathol Lab Med. 2013 Jan;137(1):55-63
references.pmid: 23276175
references.citation: Am J Surg Pathol. 2001 Oct;25(10):1225-30
references.pmid: 11688455
references.citation: Prenat Diagn. 2005 Apr;25(4):314-7
references.pmid: 15849799
references.citation: BMJ. 2008 Aug 15;337:a1193
references.pmid: 18708429
references.citation: Eur J Hum Genet. 2013 Sep;21(9):957-64
references.pmid: 23232697
references.citation: Int J Gynecol Pathol. 1993 Oct;12(4):315-23
references.pmid: 8253548
references.citation: Br J Obstet Gynaecol. 1987 Dec;94(12):1123-35
references.pmid: 3322372
references.citation: Curr Obstet Gynecol Rep. 2014 Jan 21;3:55-64
references.pmid: 24533231
references.citation: Am J Hum Genet. 2004 Jun;74(6):1168-74
references.pmid: 15127362
references.citation: Cancer Genet. 2012 Mar;205(3):63-77
references.pmid: 22469506
references.citation: Aust N Z J Obstet Gynaecol. 2003 Aug;43(4):280-9
references.pmid: 14714712
references.citation: Am J Hum Genet. 2011 Sep 9;89(3):451-8
references.pmid: 21885028
references.citation: Br J Obstet Gynaecol. 1982 Apr;89(4):255-7
references.pmid: 6280746
references.citation: J Midwifery Womens Health. 2012 May-Jun;57(3):255-9
references.pmid: 22587615
references.citation: J Mol Diagn. 2009 Nov;11(6):598-605
references.pmid: 19815697
references.citation: J Reprod Med. 2007 May;52(5):397-401
references.pmid: 17583238
references.citation: Hum Mutat. 2009 May;30(5):E629-39
references.pmid: 19309689
references.citation: Nucleic Acids Res. 2009 Jul;37(13):4181-93
references.pmid: 19570852
references.citation: Prenat Diagn. 2013 Mar;33(3):205-8
references.pmid: 23354651
references.citation: Clin Genet. 2009 Sep;76(3):292-5
references.pmid: 19650864
references.citation: N Engl J Med. 2009 Apr 16;360(16):1639-45
references.pmid: 19369669
references.citation: Genet Med. 2011 Jan;13(1):46-51
references.pmid: 21102343
references.citation: Nat Genet. 2006 Mar;38(3):274-6
references.pmid: 16501554