title: Triploidy--Observations in 154 Diandric Cases.
abstract: Hydatidiform moles (HMs) are abnormal human pregnancies with vesicular chorionic villi, imposing two clinical challenges; miscarriage and a risk of gestational trophoblastic neoplasia (GTN). The parental type of most HMs are either diandric diploid (PP) or diandric triploid (PPM). We consecutively collected 154 triploid or near-triploid samples from conceptuses with vesicular chorionic villi. We used analysis of DNA markers and/or methylation sensitive-MLPA and collected data from registries and patients records. We performed whole genome SNP analysis of one case of twinning (PP+PM).In all 154 triploids or near-triploids we found two different paternal contributions to the genome (P1P2M). The ratios between the sex chromosomal constitutions XXX, XXY, and XYY were 5.7: 6.9: 1.0. No cases of GTN were observed. Our results corroborate that all triploid human conceptuses with vesicular chorionic villi have the parental type P1P2M. The sex chromosomal ratios suggest approximately equal frequencies of meiosis I and meiosis II errors with selection against the XYY conceptuses or a combination of dispermy, non-disjunction in meiosis I and meiosis II and selection against XYY conceptuses. Although single cases of GTN after a triploid HM have been reported, the results of this study combined with data from previous prospective studies estimate the risk of GTN after a triploid mole to 0% (95% CI: 0-1,4%).
authors.affiliation: Department of Biomedicine, Aarhus University, Aarhus, Denmark.
authors.forename: Nanna Brink
authors.initials: NB
authors.lastname: Scholz
authors.affiliation: Department of Biomedicine, Aarhus University, Aarhus, Denmark.|Beijing Genomics Institute/HuaDa-Shenzhen, Shenzhen, China.
authors.forename: Lars
authors.initials: L
authors.lastname: Bolund
authors.affiliation: Department of Biomedicine, Aarhus University, Aarhus, Denmark.
authors.forename: Mette
authors.initials: M
authors.lastname: Nyegaard
authors.affiliation: Department of Oncology, Aarhus University Hospital, Aarhus, Denmark.
authors.forename: Louise
authors.initials: L
authors.lastname: Faaborg
authors.affiliation: Institute of Pathology, Aarhus University Hospital, Aarhus, Denmark.
authors.forename: Mette Warming
authors.initials: MW
authors.lastname: Jørgensen
authors.affiliation: Institute of Pathology, Aalborg University Hospital, Aalborg, Denmark.
authors.forename: Helle
authors.initials: H
authors.lastname: Lund
authors.affiliation: Department of Gynecology and Obstetrics, Aarhus University Hospital, Aarhus, Denmark.
authors.forename: Isa
authors.initials: I
authors.lastname: Niemann
authors.affiliation: Department of Biomedicine, Aarhus University, Aarhus, Denmark.|Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
authors.forename: Lone
authors.initials: L
authors.lastname: Sunde
mesh_terms: D002824:Chorionic Villi / Q000378:metabolism*; D004171:Diploidy; D005260:Female; D015894:Genome, Human / Q000235:genetics; D005838:Genotype; D006801:Humans; D006828:Hydatidiform Mole / Q000235:genetics*; D059785:Karyotype; D007621:Karyotyping; D008297:Male; D008957:Models, Genetic; D011247:Pregnancy; D012729:Sex Chromosome Aberrations; D057885:Triploidy