Mette W Joergensen1, Isa Niemann2, Anders A Rasmussen3, Johnny Hindkjaer4, Inge Agerholm5, Lars Bolund6, Lone Sunde7. 1. 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. 2. Department of Gynecology and Obstetrics, Aarhus University Hospital, Aarhus, Denmark. 3. Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark. 4. Fertility Clinic and Center for Preimplantation Genetic Diagnosis, Aarhus University Hospital, Aarhus, Denmark. 5. Fertility Clinic, Horsens Hospital, Horsens, Denmark. 6. Department of Biomedicine, Aarhus University, Aarhus, Denmark. 7. Department of Biomedicine, Aarhus University, Aarhus, Denmark; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Abstract
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%.
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%.
Authors: Malou A Lugthart; Judith Horenblas; Emily C Kleinrouweler; Melanie Engels; Alida C Knegt; Karin Huijsdens; Elisabeth van Leeuwen; Eva Pajkrt Journal: Prenat Diagn Date: 2020-03-03 Impact factor: 3.050
Authors: D Massalska; J Bijok; A Kucińska-Chahwan; J G Zimowski; K Ozdarska; A Raniszewska; G M Panek; T Roszkowski Journal: Arch Gynecol Obstet Date: 2020-03-26 Impact factor: 2.344
Authors: Diana Massalska; Katarzyna Ozdarska; Tomasz Roszkowski; Julia Bijok; Anna Kucińska-Chahwan; Grzegorz Mieczysław Panek; Janusz Grzegorz Zimowski Journal: J Assist Reprod Genet Date: 2021-05-13 Impact factor: 3.412