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Review Article J Med Genet: First Published As 10.1136/Jmg.33.7.529 on 1 July 1996 JMed Genet 1996;33:529-533 529 Review article J Med Genet: first published as 10.1136/jmg.33.7.529 on 1 July 1996. Downloaded from Confined placental mosaicism Dagmar K Kalousek, Michel Vekemans In most pregnancies the chromosomal com- Types of CPM plement detected in the fetus is also present in There are three types of CPM, categorised the placenta. The detection of an identical according to the placental cell lineage ex- chromosomal complement in both the fetus hibiting the abnormal cell line (fig 1, table 1). and its placenta has always been expected as Placental mosaicism can be confined to either both develop from the same zygote. However, cytotrophoblast (type I), chorionic stroma (type in approximately 2% of viable pregnancies II), or both cell lineages (type III). CPM is the studied by chorionic villus sampling (CVS) at result of viable postzygotic mitotic mutation(s) 9 to 11 weeks of gestation, the cytogenetic occurring in either the progenitor cells of spe- abnormality, most often trisomy, is confined to cific placental cell lineages or the true em- the placenta.l" This phenomenon is known as bryoblasts. It can arise in both a diploid confined placental mosaicism (CPM). It was conception (mitotic CPM) or in a viable di- first described by Kalousek and Dill5 in term viding chromosomally abnormal zygote (mei- Departments of placentas of infants born with unexplained in- otic CPM). A diploid non-mosaic fetus with Pathology and Medical trauterine growth restriction (IUGR). Contrary chromosomal trisomy confined to both cell Genetics, The University of British to generalised mosaicism, which is char- lineages ofthe placenta (type III CPM) implies Columbia, Vancouver, acterised by the presence oftwo or more karyo- that the conceptus was originally trisomic (mei- BC, Canada typically different cell lines within both the otic CPM). At present there is no nomenclature D K Kalousek fetus and its placenta, CPM represents tissue designated for various types of CPM and there- Service d'Histologie, specific chromosomal mosaicism affecting the fore we propose to label CPM1 6 as a confined Embryologie, placenta only. The diagnosis of CPM is most placental mosaicism involving chromosome 16 Cytogenetique, commonly made when, after the diagnosis of without specification of its type. H6pital Necker chromosomal mosaicism in a CVS sample, the Enfants Malades, http://jmg.bmj.com/ Paris, France second prenatal testing (amniotic fluid culture M Vekemans or fetal blood culture analysis) shows a normal Developmental aspects of CPM Correspondence to: diploid karyotype. The existence of a discrepancy between the Dr Kalousek, Cytogenetic Med Genet 1996;33:529-533) chromosomal constitution of chorionic tissue Laboratory, BC Children's (J7 Hospital, 4480 Oak Street, and embryonic/fetal tissues is the result ofcom- Vancouver, BC, Key words: confined placental mosaicism; uniparental plex developmental events during early em- Canada V6P 3H6. disomy; intrauterine growth restriction. bryogenesis. Both the cell lineage involvement and the timing of the occurrence of the second on September 28, 2021 by guest. Protected copyright. viable cell line are equally important in the final cell distribution. It has been shown in rodents that, between the eight cell stage and the blastocyst, the Type cells situated in the innermost layers contribute more frequently to the inner cell mass form- ation than do the peripheral cells.6 The elegant experiments with manufactured hexaparental mice performed by Markert and Petters7 have 7 shown that the wall of the blastocyst gives rise Type 11 exclusively to the chorion and that the complete embryo is derived from only three cells of the inner cell mass. The remaining cells of the inner cell mass contribute to the development Table 1 Frequencies of various types of CVS mosaicism and cell lineage involvement in CPM (1) Generalised mosaicism 5/2612 0-19% (2) Confined placental mosaicism 51/2612 1-9% Type I: cytotrophoblast 20 0-8% Figure 1 Three different types of confined placental mosaicism: I, trisomic Type II: extraembryonic cytotrophoblast and diploid chorionic stroma; II, diploid and mesenchyme 24 0.9% cytotrophoblast trisomic Type III: cytotrophoblast and chorionic stroma; III, trisomic cytotrophoblast and chorionic stroma. In all three types the mesenchyme 7 0-2% mosaicism is confined to the placenta and the fetus is either non-mosaic diploid (in most cases) or non-mosaic aneuploid (in which case the cytotrophoblast is diploid). Modified from Wang et al. Prenat Diagn 1993;13:179-91. 530 Kalousek, Vekemans of extraembryonic structures such as the yolk The effects of CPM on development may sac, allantois, and some parts of the amnion. vary with the timing of the chromosome in- The morphogenesis of human cleavage em- volved, the type of chromosome abnormality, bryos has not been studied experimentally in the proportions of the different chromosome J Med Genet: first published as 10.1136/jmg.33.7.529 on 1 July 1996. Downloaded from as much detail as that of mouse embryos.8 In complements present, and the tissues affected. both species, however, the histological ap- For example, CPM type I is frequent (table 1) pearance of the inner cell mass and the pattern and appears to be associated with spontaneous of formation of the embryo proper suggests abortion and IUGR." CPM type II is also great similarity in the early stages of em- frequent but its effect on fetal development bryogenesis.9 The knowledge that only a few remains unknown."6 embryonic progenitor cells are selected from The outcome appears to depend also on the the inner cell mass at the blastocyst stage pro- nature of the chromosome abnormality as well foundly changes our understanding of the de- as the number and the viability ofplacental cells velopment of human mosaic morulas.'0 with an abnormal chromosomal complement. The significance of the cell lineage involved Trisomy 16 is the most common aneuploidy in the chromosomal mutation and ofthe timing observed in CPM.'7 Other frequently reported at which the second viable cell line appears is aneuploidies include trisomies 2, 7, 9, 15, and obvious. These two factors determine whether 22. Interestingly enough, there is a good cor- the mosaic morula develops into a conceptus relation for some chromosomes involved in characterised by chromosomal mosaicism ex- chromosomally abnormal spontaneous abor- pressed in both the placenta and the fetus or tions and those involved in CPM. This suggests by chromosomal dichotomy between chorionic that for some chromosomes CPM is mostly the and embryonic/fetal tissues. When the second meiotic type whereas for other chromosomes it viable cell line arises at the first postzygotic is the mitotic type. CPM involving monosomy, division or shortly thereafter, the distribution except for sex chromosome monosomy, does ofthe cells ofboth genotypes in the morula will not occur as frequently, presumably because be more or less even if the cells are distributed chromosome loss is likely to result in a viable randomly. This will result in an increased pos- placental cell progeny but other factors might sibility of generalised chromosomal mosaicism be involved. expression in both the embryo and the placental In addition to the previous considerations, trophoblast and chorion. When, however, the the low predictive value of CPM is also ex- second viable cell line emerges after the third plained by data shown in table 3. Overall, CPM postzygotic division, the position of a mutant is confirmed at term in the majority oforiginally cell in the morula determines its impact on the diagnosed pregnancies in CVS. Among in- formation of the embryo proper. An unequal dividual chromosomes there is heterogeneity, distribution of both cell lines in the inner cell however, with chromosome 9 and 16 having mass increases the probability that only one the strongest tendency to persist to term in a cell line will be involved in the formation of form of trisomy/diploidy mosaic. Since not all http://jmg.bmj.com/ the embryo proper and a mosaicism confined prenatally diagnosed CPM persists to term, to the trophoblast or the chorion will result (fig correlation of pregnancy outcome with CVS 1). Significant confined placental mosaicism diagnosis is limited. An accurate interpretation can also originate after the morula stage as of the effect of CPM is only possible when the shown below. term placenta is analysed extensively and the pregnancy course and outcome is correlated with the extent of aneuploid involvement in on September 28, 2021 by guest. Protected copyright. Clinical consequences of CPM the term placenta.'8 It has been estimated that approximately 16 to 21% ofpregnancies with CPM show prenatal or perinatal complications." 12 In particular CPM Table 2 Prenatally diagnosed CPM for various chromosomes and incidence of IUGR at birth in 105 may be associated with a spectrum of fetal pregnancies manifestations ranging from normal pregnancy Chromosome No of cases IUGR outcome to intrauterine death of a chro- involved with CPM at birth mosomally normal fetus, IUGR, or even de- 3 15 1 livery of larger than normal size fetuses."' For 7 20 1 example, a recent review showed 73, mostly 8 10 1 13 19 2 individually reported pregnancies with CPM, 15 7 1 to have either IUGR or complications resulting 18 18 2 in intrauterine fetal death.'" 22 5 3 When placental mosaicism detected by first 2 = 12 81, df= 6, p = 005. Delozier-Blanchet, personal com- trimester CVS has been associated with poor munication. perinatal outcome, intrauterine growth re- and fetal it has been striction, loss, postulated Table 3 Correlation ofpersistence of confined placental that chromosome specific mosaicism could be mosaicism to term and IUGR in 80 pregnancies responsible for suboptimal placental function Prenatal diagnosis of CPM IUGR Nornal birth and associated pregnancy complications. For in 80 pregnancies weight example, variable outcome of 84 pregnancies CVS mosaicism only 0 20 with prenatally diagnosed CPM is shown in CVS and term table 2.
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