Phenotype of triploid embryos

The phenotypes of triploid fetuses and placentae are now well established and known to correlate with parental origin of the extra haploid set of chromosomes. In fetuses, it is not clear whether there is a direct parent of origin effect on the fetus itself or if the phenotypes are the result of growth differences influenced by abnormalities in growth and function of the placenta. Examining the phenotype of triploid embryos at an earlier stage in gestation, when the placenta effects may be less pronounced, could help clarify this question. A phenotype characteristic of triploidy in the embryonic period has been described; however, parental origin was not determined in these embryonic cases. In the present study, a population of triploid embryos is assessed to determine if there is a correlation between parental origin and phenotype. Parental origin was determined in 27 first trimester miscarriages. Digyny accounted for 19 cases and diandry for eight cases. Assessment of embryonic phenotype with parental origin showed no correlation between the phenotype of the embryo and parental origin of the extra haploid set. While there may be subtle effects of imprinting on embryonic development, they are not as obvious as they are in the mouse, consistent with the general trend of fewer imprinted genes in human beings compared with the mouse.

[1]  Wolf Reik,et al.  Co-evolution of X-chromosome inactivation and imprinting in mammals , 2005, Nature Reviews Genetics.

[2]  D. Kalousek,et al.  Effects of triploidy on early human development , 2004, Prenatal diagnosis.

[3]  S. Langlois,et al.  Parental origin of triploidy in human fetuses: evidence for genomic imprinting , 1993, Human Genetics.

[4]  G. Lockitch,et al.  Maternal serum screening in triploidy , 2002, Prenatal diagnosis.

[5]  C. Cooke‐Yarborough,et al.  Karyotype, phenotype and parental origin in 19 cases of triploidy , 2001, Prenatal diagnosis.

[6]  D. McFadden,et al.  Gonadal Pathology in Triploidy , 2000, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

[7]  S. Langlois,et al.  Parental and meiotic origin of triploidy in the embryonic and fetal periods , 2000, Clinical genetics.

[8]  U. Surti,et al.  Parental origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and association with the partial hydatidiform mole. , 2000, American journal of human genetics.

[9]  T. Hassold,et al.  Prevalence of the partial molar phenotype in triploidy of maternal and paternal origin. , 1998, Human pathology.

[10]  D. McFadden,et al.  Placental pathology of triploidy. , 1996, Human pathology.

[11]  B. Eiben,et al.  LETTER TO THE EDITOR. Triploidy, Imprinting and hCG–levels in Maternal Serum Screening , 1996, Prenatal diagnosis.

[12]  J. Carroll.  Maternal serum screening. , 1994, Canadian family physician Medecin de famille canadien.

[13]  D. Kalousek,et al.  Two different phenotypes of fetuses with chromosomal triploidy: correlation with parental origin of the extra haploid set. , 1991, American journal of medical genetics.

[14]  M. Kaufman,et al.  Influence of diandric and digynic triploid genotypes on early mouse embryogenesis. , 1989, Development.

[15]  M. Surani,et al.  Influence of parental chromosomes on spatial specificity in androgenetic ↔ parthenogenetic chimaeras in the mouse , 1987, Nature.

[16]  D. Warburton,et al.  Morphology of early fetal deaths and their chromosomal characteristics. , 1985, Teratology.

[17]  S. Lawler.  Genetic studies on hydatidiform moles. , 1984 .

[18]  P. Jacobs,et al.  Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole , 1982, Annals of human genetics.

[19]  S. Povey,et al.  Genetic studies on hydatidiform moles. I. The origin of partial moles. , 1982, Cancer genetics and cytogenetics.

[20]  A. Niemierko.  Postimplantation development of CB-induced triploid mouse embryos. , 1981, Journal of embryology and experimental morphology.

[21]  J. Boué,et al.  Human Triploidy: Association with Partial Hydatidiform Moles and Nonmolar Conceptuses , 1981, Human pathology.

[22]  B. J. Poland,et al.  Triploidy in 40 Human Spontaneous Abortuses: Assessment of Phenotype in Embryos , 1981, Obstetrics and gynecology.