1 Department of Biomedicine - Forskning og uddannelse, Øst, Department of Biomedicine, Health, Aarhus University2 Department of Clinical Medicine - Department of Obstetrics and Gynaecology, Department of Clinical Medicine, Health, Aarhus University3 AU IT - AU IT Skyen, Roskilde, AU IT, Central Administration, Aarhus University4 Department of Human Genetics, Faculty of Health Sciences, Aarhus University, Aarhus University5 Department of Clinical Medicine - Department of Obstetrics and Gynaecology, Department of Clinical Medicine, Health, Aarhus University6 Department of Biomedicine - Forskning og uddannelse, Øst, Department of Biomedicine, Health, Aarhus University
OBJECTIVE: The purpose of this study was to analyze the correlation between the genetic constitution and the phenotype in triploid pregnancies. STUDY DESIGN: 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. CONCLUSION: 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%.
American Journal of Obstetrics and Gynecology, 2014, Vol 211, Issue 4
diagnosis genomic human chorionic gonadotropin hydatidiform mole triploidy PARTIAL HYDATIDIFORM MOLE PARENTAL ORIGIN PRENATAL-DIAGNOSIS HCG LEVELS FETUSES VARIABILITY ASSOCIATION PHENOTYPE SET