title: Placental mosaicism and intrauterine survival of trisomies 13 and 18.
abstract: Cytogenetic analysis of 14 placentas from live newborn infants or from terminated pregnancies with trisomies 13 and 18 revealed that all were mosaic. The mosaicism was confined to the cytotrophoblast and not detected in villous stroma, chorionic plate, or amnion. The percentage of cells with a normal karyotype varied from 12% to 100%, the average being 70%. No such confined mosaicism could be detected in 12 placentas of trisomy 21 fetuses. These findings suggest that a postzygotic loss of a trisomic chromosome in a progenitor cell of trophectoderm facilitates the intrauterine survival of trisomy-13 and -18 conceptuses. They also imply that it is placental function which determines the intrauterine survival and that the mother plays no active role in rejection of trisomic conceptions. The combination of both a pre- and post-zygotic cell division defect in viable trisomy-13 and -18 conceptions points to the possibility of a genetic predisposition to such events. The detection of only a diploid cell line in the cytotrophoblast of some pregnancies with trisomies 13 and 18 also suggests that direct preparation is unreliable for prenatal diagnosis of these trisomies on chorionic villi sampling and that long-term villous culture should be used.
authors.affiliation: Department of Pathology and Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: D K
authors.initials: DK
authors.lastname: Kalousek
authors.forename: I J
authors.initials: IJ
authors.lastname: Barrett
authors.forename: B C
authors.initials: BC
authors.lastname: McGillivray
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D005260:Female; D005313:Fetal Death / Q000235:genetics; D005328:Fetal Viability; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009030:Mosaicism; D010920:Placenta / Q000648:ultrastructure*; D011247:Pregnancy; D014314:Trisomy