Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1989 Mar;44(3):338–343.

Placental mosaicism and intrauterine survival of trisomies 13 and 18.

D K Kalousek 1, I J Barrett 1, B C McGillivray 1
PMCID: PMC1715446  PMID: 2916579

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.

Full text

PDF
343

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Brandriff B., Gordon L., Ashworth L., Watchmaker G., Moore D., 2nd, Wyrobek A. J., Carrano A. V. Chromosomes of human sperm: variability among normal individuals. Hum Genet. 1985;70(1):18–24. doi: 10.1007/BF00389451. [DOI] [PubMed] [Google Scholar]
  2. Cox D. M., Niewczas-Late V., Riffell M. I., Hamerton J. L. Chromosomal mosaicism in diagnostic amniotic fluid cell cultures. Pediatr Res. 1974 Jun;8(6):679–683. doi: 10.1203/00006450-197406000-00009. [DOI] [PubMed] [Google Scholar]
  3. Edmonds D. K., Lindsay K. S., Miller J. F., Williamson E., Wood P. J. Early embryonic mortality in women. Fertil Steril. 1982 Oct;38(4):447–453. [PubMed] [Google Scholar]
  4. Eiben B., Borgmann S., Schübbe I., Hansmann I. A cytogenetic study directly from chorionic villi of 140 spontaneous abortions. Hum Genet. 1987 Oct;77(2):137–141. doi: 10.1007/BF00272380. [DOI] [PubMed] [Google Scholar]
  5. Gardner R. L. The relationship between cell lineage and differentiation in the early mouse embryo. Results Probl Cell Differ. 1978;9:205–241. doi: 10.1007/978-3-540-35803-9_8. [DOI] [PubMed] [Google Scholar]
  6. Kalousek D. K., Dill F. J. Chromosomal mosaicism confined to the placenta in human conceptions. Science. 1983 Aug 12;221(4611):665–667. doi: 10.1126/science.6867735. [DOI] [PubMed] [Google Scholar]
  7. Kalousek D. K., Dill F. J., Pantzar T., McGillivray B. C., Yong S. L., Wilson R. D. Confined chorionic mosaicism in prenatal diagnosis. Hum Genet. 1987 Oct;77(2):163–167. doi: 10.1007/BF00272385. [DOI] [PubMed] [Google Scholar]
  8. Linton G., Lilford R. J. False-negative finding on chorionic villus sampling. Lancet. 1986 Sep 13;2(8507):630–630. doi: 10.1016/s0140-6736(86)92453-0. [DOI] [PubMed] [Google Scholar]
  9. Macafee J., Fortune D. W., Brown J. B., Beischer N. A. Fetoplacental function in Down's syndrome (mongolism). Obstet Gynecol. 1970 Nov;36(5):735–740. [PubMed] [Google Scholar]
  10. Markert C. L., Petters R. M. Manufactured hexaparental mice show that adults are derived from three embyronic cells. Science. 1978 Oct 6;202(4363):56–58. doi: 10.1126/science.694518. [DOI] [PubMed] [Google Scholar]
  11. Martin R. H., Rademaker A. W., Hildebrand K., Long-Simpson L., Peterson D., Yamamoto J. Variation in the frequency and type of sperm chromosomal abnormalities among normal men. Hum Genet. 1987 Oct;77(2):108–114. doi: 10.1007/BF00272374. [DOI] [PubMed] [Google Scholar]
  12. Simoni G., Fraccaro M., Gimelli G., Maggi F., Dagna Bricarelli F. False-positive and false-negative findings on chorionic villus sampling. Prenat Diagn. 1987 Nov;7(9):671–672. doi: 10.1002/pd.1970070911. [DOI] [PubMed] [Google Scholar]
  13. Stein Z. Early fetal loss. Birth Defects Orig Artic Ser. 1981;17(1):95–111. [PubMed] [Google Scholar]
  14. Stene J., Warburton D. Evidence for smaller probabilities for trisomic mosaicism for acrocentric than for nonacrocentric chromosomes. Am J Hum Genet. 1981 May;33(3):484–485. [PMC free article] [PubMed] [Google Scholar]
  15. Vekemans M. J., Perry T. B. Cytogenetic analysis of chorionic villi: a technical assessment. Hum Genet. 1986 Apr;72(4):307–310. doi: 10.1007/BF00290954. [DOI] [PubMed] [Google Scholar]
  16. Vekemans M., Trasler T. Animal model: genetic control of the survival of trisomic fetuses in mice: a preliminary report. Am J Med Genet. 1987 Apr;26(4):763–770. doi: 10.1002/ajmg.1320260402. [DOI] [PubMed] [Google Scholar]
  17. Warburton D., Stein Z., Kline J. In utero selection against fetuses with trisomy. Am J Hum Genet. 1983 Sep;35(5):1059–1064. [PMC free article] [PubMed] [Google Scholar]
  18. Wirtz A., Seidel H., Brusis E., Murken J. Another false-negative finding on placental sampling. Prenat Diagn. 1988 May;8(4):321–321. doi: 10.1002/pd.1970080414. [DOI] [PubMed] [Google Scholar]
  19. Wramsby H., Fredga K., Liedholm P. Chromosome analysis of human oocytes recovered from preovulatory follicles in stimulated cycles. N Engl J Med. 1987 Jan 15;316(3):121–124. doi: 10.1056/NEJM198701153160301. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES