title: Triploid pregnancies: genetic and clinical features of 158 cases.
abstract: OBJECTIVE
  The purpose of this study was to analyze the correlation between the genetic constitution and the phenotype in triploid pregnancies.
  
  
  METHODS
  One hundred fifty-eight triploid pregnancies were identified in hospitals in Western Denmark from April 1986 to April 2010. Clinical data and karyotypes were collected retrospectively, and archived samples were retrieved. The parental origin of the genome, either double paternal contribution (PPM) or double maternal contribution (MMP) was determined by an analysis of methylation levels at imprinted sites.
  
  
  RESULTS
  There were significantly more PPM than MMP cases (P < .01). In MMP cases, the possible karyotypes had similar frequencies, whereas, in PPM cases, 43% had the karyotype 69,XXX, 51% had the karyotype 69,XXY, and 6% had the karyotype 69,XYY. Molar phenotype was seen only in PPM cases. However, PPM cases with a nonmolar phenotype were also seen. For both parental genotypes, various fetal phenotypes were seen at autopsy. Levels of human chorionic gonadotropin in maternal serum were low in MMP cases and varying in PPM cases, some being as low as in the MMP cases.
  
  
  CONCLUSIONS
  In a triploid pregnancy, suspicion of hydatidiform mole at ultrasound scanning, by macroscopic inspection of the evacuated tissue, at histology, or because of a high human chorionic gonadotropin in maternal serum level each predict the parental type PPM with a very high specificity. In contrast, the sensitivity of these observations was <100%.
authors.affiliation: Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark; Institute of Regional Health Research, University of Southern Denmark, Odense, Denmark. Electronic address: mette.warming.joergensen@rsyd.dk.
authors.forename: Mette W
authors.initials: MW
authors.lastname: Joergensen
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 Clinical Genetics, Vejle Hospital, Vejle, Denmark.
authors.forename: Anders A
authors.initials: AA
authors.lastname: Rasmussen
authors.affiliation: Fertility Clinic and Center for Preimplantation Genetic Diagnosis, Aarhus University Hospital, Aarhus, Denmark.
authors.forename: Johnny
authors.initials: J
authors.lastname: Hindkjaer
authors.affiliation: Fertility Clinic, Horsens Hospital, Horsens, Denmark.
authors.forename: Inge
authors.initials: I
authors.lastname: Agerholm
authors.affiliation: Department of Biomedicine, Aarhus University, Aarhus, Denmark.
authors.forename: Lars
authors.initials: L
authors.lastname: Bolund
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: D059786:Abnormal Karyotype; D015415:Biomarkers / Q000097:blood; D006063:Chorionic Gonadotropin / Q000097:blood; D005260:Female; D005838:Genotype; D006801:Humans; D006828:Hydatidiform Mole / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D007621:Karyotyping; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012189:Retrospective Studies; D057885:Triploidy; D014594:Uterine Neoplasms / Q000097:blood / Q000175:diagnosis / Q000235:genetics
chemical_list: D015415:Biomarkers; D006063:Chorionic Gonadotropin
keywords: diagnosis; genomic; human chorionic gonadotropin; hydatidiform mole; triploidy