Chromosome Abnormalities and Phenotype in Previable Fetuses

  • Dagmar K. Kalousek
  • Naomi Fitch
  • Barbara A. Paradice


The incidence of chromosome errors in late spontaneous abortions is low (about 5%) compared to the losses during the embryonic period of development (Craver and Kalousek, 1987). Late spontaneous abortions related to chromosomal trisomies generally involve younger fetuses (9 to 14 weeks of development), whereas X chromosome monosomy and triploidies abort any time between 9 and 18 weeks. Since fetuses may be retained in utero after intrauterine death for several days to weeks, they are usually macerated and distorted by the time spontaneous abortion occurs. It is therefore good policy to initiate chromosomal studies of all retained macerated fetuses, regardless of the presence or absence of developmental defects.


Down Syndrome Chromosome Abnormality Ventricular Septal Defect Turner Syndrome Noonan Syndrome 
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  1. Austin G, Sparkes R: Abnormal cerebral cortical convolutions in an XYY fetus. Hum Genet 56: 173 - 175, 1980.PubMedCrossRefGoogle Scholar
  2. Autio-Harmainen H, Rapola J, Aula P: Fetal gonadal histology inXXXXY, XYY and XXX syndromes. Clin Gen 18:1-5, 1980. Brun A, Gustayson K: Cerebral malformations in the XYY syndrome.ffGoogle Scholar
  3. Acta Pathol Microbiol Scand(Section A) 80:627-633, 1972. Chitayat D, Kalousek D, Bamforth J: The lymphatic abnormalitiesin fetuses with posterior cervical cystic hygroma. Am J MedGenet 33:352-356, 1989.Google Scholar
  4. Clark E: Neck web and congenital heart defects: A pathogenic associa-tion in 45 X-O Turner's syndrome? Teratology 29: 355 - 361, 1984.PubMedCrossRefGoogle Scholar
  5. Craver RD, Kalousek DK: Cytogenetic abnormalities among spon-taneously aborted previable fetuses. Am J Med Genet (Suppl3):113-119, 1987.Google Scholar
  6. FitzSimmons J, Droste S, Shepard TH, Pascoe-Mason J, Chinn A, Mack LA: Long-bone growth in fetuses with Down syndrome. Am J Obstet Gynecol 161: 1174 - 1177.Google Scholar
  7. Fryns J, Kleczowska A, Kubien E, Van den Berghe H: Excess ofmental retardations and/or congenital malformation in recipro-cal translocations in man. Hum Genet 72: 1 - 8, 1986.PubMedCrossRefGoogle Scholar
  8. Fujinaga M, Shepard T, Fitzsimmons J: Trisomy 13 in the fetus. Ter-atology 39: 454, 1989.Google Scholar
  9. Gilbert EF, Arya S, Laxova R, Opitz J: Pathology of chromosome abnormalities in the fetus—pathologic markers. Birth Defects OAS 23: 293 - 306, 1987.Google Scholar
  10. Hashida Y, Jaffe R, Huni EJ: Pancreatic pathology in trisomy 13:Google Scholar
  11. Specificity of the morphologic lesion. Pediatr Pathol 1: 169178, 1983.Google Scholar
  12. Jacobs PA, Hassold TJ: Chromosome abnormalities: Origin and etiology in abortions and live births, in Vogel F, Sperling K (eds): Human Genetics. Berlin, Springer-Verlag, 1987, pp 233 - 244.CrossRefGoogle Scholar
  13. Jacobs P, Szulman A, Funkhouser J, Matsuura J, Wilson C: Human triploidy: Relationship between paternal origin of the additional haploid complement and development of partial hydatidiform mole. Ann Hum Genet 46: 223 - 231, 1982.PubMedCrossRefGoogle Scholar
  14. Jones K: Smith's Recognizable Patterns of Human Malformation, ed 4. Philadelphia, WB Saunders, 1988.Google Scholar
  15. Kalousek D, Seller M: Differential diagnosis of posterior cervical hygroma in previable fetuses. Am J Med Genet (suppl) 3: 83 - 92, 1987.Google Scholar
  16. Lacro R, Jones K, Benirschke K: Coarctation of the aorta in Turner syndrome. Pediatrics 81: 445 - 451, 1988.PubMedGoogle Scholar
  17. Lockwood C, Benacerraf B, Kinsky A, Blakemore K, Belanger K, Mahoney M, Hobbins J: A sonographic screening method for Down syndrome. Am J Obstet Gynol 157: 803 - 808, 1987.Google Scholar
  18. Lynch L, Berkowitz RL: First trimester growth delay in trisomy 18. Am J Perinatol 6: 237 - 239, 1989.PubMedCrossRefGoogle Scholar
  19. McFadden D, Kalousek D: Fetal triploid phenotypes: Correlation with parental origin of extra haploid set. Am J Med Genet in press.Google Scholar
  20. Matsuoka R, Matsuyama S, Yamamoto Y, Kuroki Y, Matsui I: Trisomy 18q. A case report and review of karyotype-phenotype correlations. Hum Genet 57: 78 - 82, 1981.PubMedCrossRefGoogle Scholar
  21. Moerman P, Fryns J-P, van der Steen K, Kleczkowska A, Lauweryns J: The pathology of trisomy 13 syndrome. A study of 12 cases. Hum Genet 80: 349 - 356, 1988.PubMedCrossRefGoogle Scholar
  22. Murken J, Stengel-Rutkowski S, Walthier J, Westenfelder S, Rem-berger K, Zimmer R: Klinefelter's syndrome in a fetus. Lancet i: 171, 1984.Google Scholar
  23. Niebuhr E: Triploidy in man. Humangenetik 21: 103 - 125, 1974.PubMedCrossRefGoogle Scholar
  24. Pettersen JC, Bersu ET: A comparison of the anatomical variations found in trisomes 13, 18 and 21, in Persaud E (ed): Genetic Disorders, Syndromology and Prenatal Diagnosis. Lancaster, MTP Press, 1982, pp 161 - 179.Google Scholar
  25. Rehder M: Embryopathology in prenatal diagnosis, in Murker JD (ed): Prenatal Diagnosis. Stuttgart, Ferdinand Enke, 1978, pp 336 - 341.Google Scholar
  26. Robinson A, Lubs H, Nielsen J, Sorensen K: Summary of clinical findings: Profiles of children with 47,XXY, 47,XXX and 47,XYY karyotypes. Birth Defects OAS XV 1: 261 - 266, 1979.Google Scholar
  27. Rock J, Rock W, Rary J: Testicular morphology in the 47,XXY fetus at 16 weeks gestation. Int J Gynaecol Obstetr 20: 261 - 263, 1982.CrossRefGoogle Scholar
  28. Schinzel A: Catalogue of Unbalanced Chromosome Aberrations in Man. Berlin, de Gruyter, 1984.Google Scholar
  29. Stephens T, Shepard T: The Down syndrome in the fetus. Teratology 22: 37 - 41, 1980.PubMedCrossRefGoogle Scholar
  30. Van der Putte S: Lymphatic malformation in human fetuses. A study of fetuses with Turner's syndrome or status Bonnevie-Ullrich. Virchows Arch (Pathol Anat) 376: 233 - 246, 1977.CrossRefGoogle Scholar
  31. Van Praagh S, Truman T, Firpo A, Bano-Rodrigo A, Fried R, McManus B, Engle MA, Van Praagh R: Cardiac malformations in trisomy-18: A study of 41 postmortem cases. J Am Coll Cardiol 13: 1586 - 1597, 1989.PubMedCrossRefGoogle Scholar
  32. Warburton D, Kline J, Stein Z, Hutzler M, Chin A, Hassold T: Does the karyotype of a spontaneous abortion predict the karyotype of a subsequent abortion? Am J Hum Genet 41: 465 - 487, 1987.PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1990

Authors and Affiliations

  • Dagmar K. Kalousek
    • 1
  • Naomi Fitch
    • 2
  • Barbara A. Paradice
    • 3
  1. 1.Department of PathologyThe University of British Columbia and BC Children’s HospitalVancouverCanada
  2. 2.Department of Pathology, Lady Davis Institute, Sir Mortimer B. Davis Jewish General HospitalThe University of British ColumbiaMontrealCanada
  3. 3.Embryopathology UnitBC Children’s HospitalVancouverCanada

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