Advertisement

Chromosomal Disorders in Pregnancy

  • Marion S. Verp

Abstract

Approximately 1:160 liveborns has an abnormality in chromosome number or structure. Some chromosome abnormalities (e.g., trisomy 13 or 18) are so deleterious that they preclude reproduction by an affected individual. Other chromosomal anomalies (e.g., Down’s syndrome or 47,XXX) are less severe, and pregnancy is not unexpected. Individuals with the latter anomalies usually do not have consistent physiological or structural abnormalities that impinge on pregnancy; the primary problem with such pregnancies is the increased frequency of chromosomally abnormal offspring. This increased risk is the subject of this chapter.

Keywords

Down Syndrome Turner Syndrome Premature Ovarian Failure Gonadal Dysgenesis Abnormal Cell Line 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Bovicelli, L, Orsini, LF, Rizzo, N, et al: Reproduction in Down syndrome. Obstet Gynecol 59: 13S–17S, 1982PubMedGoogle Scholar
  2. 2.
    Jagiello, G: Reproduction in Down syndrome, in de la Cruz FF, Gerald PS (eds): Trisomy 21 (Down Syndrome). Baltimore, University Park Press, 1981, pp 151–162Google Scholar
  3. 3.
    Werner,W, Herrmann FH, John B: Cytogenetic studies of a family with trisomy 21 mosaicism in two successive generations as the cause of Down’s syndrome. Hum Genet 60: 202–204, 1982CrossRefGoogle Scholar
  4. 4.
    Chen, ATL, Chan Y-K, Falek A: The effects of chromosome abnormalities on birth weight in man. I. Sex chromosome disorders. Hum Hered 21: 543–556, 1971PubMedCrossRefGoogle Scholar
  5. 5.
    Bahner, F, Schwarz G, Harnden DG, et al: A fertile female with XO sex chromoxome constitution. Lancet 2: 100–101, 1960CrossRefGoogle Scholar
  6. 6.
    Nakashima, 1, Robinson A: Fertility in a 45,X female. Pediatrics 47: 770–772, 1971Google Scholar
  7. 7.
    Grace, HJ, Quinlan DK, Edge WEB: 45, X lymphocyte karyotype in a fertile woman. Am J Obstet Gynecol 115: 279–282, 1973PubMedGoogle Scholar
  8. 8.
    Groll, M, Cooper M: Menstrual function in Turner’s syndrome. Obstet Gynecol 47: 225–226, 1976PubMedGoogle Scholar
  9. 9.
    Philip, J, Sele V: 45, XO Turner’s syndrome without evidence of mosaicism in a patient with two pregnancies. Acta Obstet Gynaecol Scand 55: 283–286, 1976CrossRefGoogle Scholar
  10. 10.
    Lajborek-Czyz I: A 45,X woman with a 47, XYG+ son. Clin Genet 9: 113–116, 1976PubMedCrossRefGoogle Scholar
  11. 11.
    Shokeir, MHK: Pregnancy in five women with 45, X/46,XX and 45,X/47,XXX gonadal dysgenesis. Birth Defects 14 (6C): 171–184, 1978PubMedGoogle Scholar
  12. 12.
    King, CR, Magenis E, Bennet S: Pregnancy and the Turner syndrome. Obstet Gynecol 52: 617–624, 1978PubMedGoogle Scholar
  13. 13.
    Neidengard, L: Turner’s syndrome and pregnancy. Obstet Gyneco 154: 532, 1979Google Scholar
  14. 14.
    Kohn, G, Yarkoni S, Cohen MM: Two conceptions in a 45, X woman. Am J Med Genet 5: 339–343, 1980PubMedCrossRefGoogle Scholar
  15. 15.
    Wray, HL, Freeman MVR, Ming P-ML: Pregnancy in the Turner syndrome with only 45, X chromosomal constitution. Fertil Steril 35: 509–514, 1981PubMedGoogle Scholar
  16. 16.
    Dewhurst, J: Fertility in 47,XXX and 45, X patients. J Med Genet 15: 132–135, 1978PubMedCrossRefGoogle Scholar
  17. 17.
    Nielsen,J, Sillesen I, Hansen KB: Fertility in women with Turner’s syndrome. Case report and review of literature. Br J Obstet Gynaecol 86: 833–835, 1979CrossRefGoogle Scholar
  18. 18.
    Sulewski, JM, Dang, TP, Ferguson KA, et al: Chromosome abnormalities associated with infertility. Obstet Gynecol 55: 469–475, 1980PubMedGoogle Scholar
  19. 19.
    Badawy, SA, Sunderji SG, Lanman, JT: Pregnancy outcome in 45,X146,XX mosaicism. Fertil Steril 35: 88–90, 1981PubMedGoogle Scholar
  20. 20.
    Kable, WT, Yussman MA: Pregnancy in mosaic Turner patients: Case report and a guide to reproductive counseling. Fertil Steril 35: 477–478, 1981PubMedGoogle Scholar
  21. 21.
    Dumon, JE, Leroy JG: 45,XO-fetus in pregnancy of 45,X0146,XX-woman. Clin Genet 23: 210, 1983Google Scholar
  22. 22.
    Simpson, JL: Pregnancies in women with chromosomal abnormalities, in Schulman JD, Simpson JL (eds): Genetic Diseases in Pregnancy. New York, Academic Press, 1981, pp 440–471Google Scholar
  23. 23.
    de Toni, E, Massimo L, Vianello MJ, et al: La casistica di un anno di attivita del Centro di Studi cromosomici delta clinica Pediatorica di Genova net campo delle malformazioni sessuali. Minerva Pediatr 17: 578–583, 1965Google Scholar
  24. 24.
    Siegelman, M: XOIXX and XOIXY mosaicism: A study of a family. Obstet Gynecol 39: 511–514, 1972Google Scholar
  25. 25.
    Giraud, F: La fertile des femmes: 45,X146,XX et 45,X146,XX147,XXX. Ann Genet 15: 256–258, 1973Google Scholar
  26. 26.
    Stewart, DA (ed): Children with sex chromosome aneuploidy: Follow–up studies. Birth Defects 18(4):xiii–251, 1982Google Scholar
  27. 27.
    Barr, ML, Sergovich FR, Carr DM, et al: The triple–X female: An appraisal based on a study of 12 cases and a review of the literature. Can Med Assoc J 101: 247–258, 1969PubMedGoogle Scholar
  28. 28.
    Kadatoni, T, Ohama K, Makino S: A case of 21–trisomic Down’s syndrome from the triple–X mother. Proc Jpn Acad 46: 709–712, 1970Google Scholar
  29. 29.
    Zizka, J, Balicek P, Nielsen J: XXYY son of a triple–X mother. Humangenetik 26: 159–160, 1975PubMedCrossRefGoogle Scholar
  30. 30.
    Guzman-Toledano, R, Ayala A, Zarate A, et al: Triple X female and Turner’s syndrome offspring. J Med Genet 13: 516–517, 1976PubMedCrossRefGoogle Scholar
  31. 31.
    Editorial: What becomes of the XYY male? Lancet 2: 1297, 1974Google Scholar
  32. 32.
    Stoll, C, Flori E, Clavert A, et al: Abnormal children of a 47,XYY father. J Med Genet 16: 66–68, 1979PubMedCrossRefGoogle Scholar
  33. 33.
    Verp, MS, Simpson JL, Martin A0: Hypostatic ulcers in 47,XXY Klinefelter’s syndrome. J Med Genet 20: 100–101, 1983PubMedCrossRefGoogle Scholar
  34. 34.
    Verp, MS, Rzeszotarski M, Martin A0, et al: Relationship between Y chromosome length and first-trimester spontaneous abortions. Am J Obstet Gynecol 145: 433–438, 1983PubMedGoogle Scholar
  35. 35.
    Simpson JL: Abnormal sexual differentiation in humans. Annu Rev Genet 16: 193–224, 1982PubMedCrossRefGoogle Scholar
  36. 36.
    Starkman, MN, Jaffe RB: Chromosome aberrations in XOIXY mosaic individuals and their fathers. Am J Obstet Gynecol 99: 1056–1066, 1967PubMedGoogle Scholar
  37. 37.
    Jacobs, PA, Frackiewicz A, Law P, et al: The effect of structural aberrations of the chromosome on reproductive fitness in man II. Results. Clin Genet 8: 169–178, 1975CrossRefGoogle Scholar
  38. 38.
    Jacobs, PA, Aitken J, Frackiewicz Z, et al: The inheritance of translocations in man: Data from families ascertained through a balanced heterozygote. Ann Hum Genet 34:119¬131, 1970Google Scholar
  39. 39.
    Hamerton, J, Boue A, Ferguson-Smith M, et al: Workshop on collaborative studies in prenatal diagnosis of chromosome disease, in Bonne-Tamin B, Cohen T, Goodman RM (eds): Human Genetics, Part B: Medical Aspects. New York, Alan R Liss, 1982, pp 369–373Google Scholar
  40. 40.
    Mikkelsen, M: Down’s syndrome: Current stage of cytogenetic research. Humangenetik 12: 1–28, 1971PubMedCrossRefGoogle Scholar
  41. 41.
    Boue, A: Studies on segregation of structural anomalies: Data from Europe. Presentation at the Sixth International Congress of Human Genetics, Jerusalem, Sept 1981Google Scholar
  42. 42.
    Fraccaro, M, Lindsten J, Ford CE, et al: The 11q;22q translocation: A European collaborative analysis of 43 cases. Hum Genet 56: 21–51, 1980PubMedGoogle Scholar
  43. 43.
    Warburton, D: Outcome of cases of de novo structural rearrangements diagnosed at amniocentesis. Prenat Diagn, 4: 69–80, 1984PubMedCrossRefGoogle Scholar
  44. 44.
    Simpson, JL: Disorders of Sexual Differentiation. Etiology and Clinical Delineation. New York, Academic Press, 1976 45.PubMedGoogle Scholar
  45. 45.
    Gerbie AB, Simpson JL: Antenatal detection of genetic disorders. Postgrad Med 59 (6): 129–136, 1976PubMedGoogle Scholar

Copyright information

© Plenum Publishing Corporation 1985

Authors and Affiliations

  • Marion S. Verp

There are no affiliations available

Personalised recommendations