Prenatal Diagnosis of Chromosome Abnormalities

  • Lillian Y. F. Hsu


The history of prenatal cytogenetic diagnosis dates back to 1955, when Serr et al. (1955) and Fuchs and Riis (1956) reported that antenatal sex determination can be made by examination of the X-chromatin body in human amniotic fluid cells. A decade later, Steele and Breg (1966) succeeded in culturing amniotic fluid cells and karyotyping fetal chromosomes. This discovery advanced the role of genetic counseling for parents at risk of having a chromosomally defective offspring. In 1977, Milunsky conducted a worldwide survey, collecting data from 32,443 genetic amniocenteses, of which 17,839 cases had been referred because of advanced maternal age. From 1978 to early 1985, there were many reports on the results of prenatal cytogenetic diagnosis published both by individual institutions and from collaborative studies. At least 18 publications have reported results from 1000 or more cases of prenatal cytogenetic diagnosis (Hsu et al., 1978; Boue et al., 1979; Golbus et al., 1979; Polani et al., 1979; Crandall et al., 1980; Stengel-Rutkowski, 1980; Webb et al., 1980; Verjaal et al., 1981; Daniel et al., 1982; Porreco et al., 1982; Simoni et al., 1982; Squire et al., 1982; Cruikshank et al., 1983; Philip et al., 1983; Young et al., 1983; Loft and Tabor, 1984; Benn et al., 1985; Dacus et al., 1985). These add up to approximately 50,000 cases, which represent only a small fraction of the amniocenteses that have been performed worldwide.


Down Syndrome Chromosome Abnormality Prenatal Diagnosis Robertsonian Translocation Amniotic Fluid Cell 
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.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Aberg, A., Mitelman, F., Cantz, M., et al., 1978, Cardiac puncture of fetuses with Hurler’s disease avoiding abortions of uneffected co-twin, Lancet 2:1007.Google Scholar
  2. Adams, M. M., Finley, S., Hansen, H., et al., 1981, Utilization of prenatal genetic diagnosis in women 35 years of age and older in the United States 1977 to 1978, Am. J. Obstet. Gynecol. 139:673.PubMedGoogle Scholar
  3. Alberman, E. D., and Creasy, M. R., 1977, Frequency of chromosomal abnormalities in miscarriages and perinatal deaths, J. Med. Genet. 14:313.PubMedCrossRefGoogle Scholar
  4. Alfi, O., Derencsenyi, A., and Donneil, G., 1977, Chromosome polymorphism and prenatal diagnosis, Lancet 1:1253.Google Scholar
  5. Andrews, T., Dunlop, W., and Roberts, D. F., 1984, Cytogenetic studies in spontaneous abortuses, Hum. Genet. 66:77.PubMedCrossRefGoogle Scholar
  6. Antonelli, A., DelMarco, A., Gabellini, P., et al., 1983, Translocation t(1;20)(q21;q13) in an azoospermic man, J. Med. Genet. 20:151.PubMedCrossRefGoogle Scholar
  7. Asilomar Workshop, 1976, Automation of Cytogenetics (M. L. Mendelsohn, ed.), Division of Biomedical and Environmental Research, ERDA, Pacific Grove, California.Google Scholar
  8. Auerbach, A. D., Warburton, D., Bloom, A. D., et al., 1979, Prenatal detection of the Fanconi anemia gene by cytogenetic method, Am. J. Hum. Genet. 31:77.PubMedGoogle Scholar
  9. Auerbach, A. D., Alder, B., and Chaganti, R. S. K., 1981, Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method, Pediatrics 67:128.PubMedGoogle Scholar
  10. Baird, P. A., Sadovnick, A. D., and McGillivray, B. C., 1985, Temporal changes in the utilization in amniocentesis for prenatal diagnosis by women of advanced maternal age, 1976 to 1983. Prenat. Diagn. 5:191.PubMedCrossRefGoogle Scholar
  11. Bardhan, S., Singh, D. N., and Davis, K., 1981, Polymorphism in chromosome 4, Clin. Genet. 20:44.PubMedCrossRefGoogle Scholar
  12. Barker, P. E., Mohandas, T., and Kaback, M., 1977, Chromosome polymorphisms in karyotypes from amniotic fluid cell cultures, Clin. Genet. 11:243.PubMedCrossRefGoogle Scholar
  13. Barr, M. L., Sergovich, F. R., Carr, D. H., et al., 1969, The triplo-X female: An appraisal based on a study of 12 cases and a review of the literature, Can. Med. Assoc. J. 101:247.PubMedGoogle Scholar
  14. Bauld, R., Sutherland, G. R., and Bain, A. D., 1974, Chromosome studies in investigations of stillbirths and neonatal deaths, Arch. Dis. Child. 49:782.PubMedCrossRefGoogle Scholar
  15. Beck, L., Terinde, R., and Dolff, M., 1980, Zwillings schwanferschaft mit freier Trisomie 21 eines kinded; sectio parva mit Entfernung des kranken und gesunden kindes, Geburtsch. Frauenheilkd. 40:397.CrossRefGoogle Scholar
  16. Belisle, S., Fenol, D. M., and Tulchinsky, D., 1977, Amniotic fluid testosterone and follicle stimulating hormone in determination of the fetal sex, Am. J. Obstet. Gynecol. 128:514.PubMedGoogle Scholar
  17. Bell, J. A., Peam, J., Cohen, G., et al., 1985, Utilization of prenatal cytogenetic diagnosis of women of advanced maternal age in Australia, 1979–1982. Prenat. Diagn. 5:53.PubMedCrossRefGoogle Scholar
  18. Bender, B. G., Puck, M. H., Salbenblatt, J. A., et al., 1984, The development of four unselected 47, XYY boys, Clin. Genet. 25:435.PubMedCrossRefGoogle Scholar
  19. Benn, P. A., and Hsu, L. Y. F., 1983, Matemal cell contamination of amniotic fluid cell cultures: Results of a U.S. nationwide survey, Am. J. Med. Genet. 15:297.PubMedCrossRefGoogle Scholar
  20. Benn, P. A., and Hsu, L. Y. F., 1984a, Reply to Bixenman et al., Am. J. Med. Genet. 17:851.CrossRefGoogle Scholar
  21. Benn, P. A., and Hsu, L. Y. F., 1984b, Incidence and significance of supernumerary marker chromosomes in prenatal diagnosis, Am. J. Hum. Genet. 36:1092.PubMedGoogle Scholar
  22. Benn, P. A., Schonhaut, A. G., and Hsu, L. Y. F., 1983a, A high incidence of maternal cell contamination of amniotic fluid cell cultures, Am. J. Med. Genet. 14:361.PubMedCrossRefGoogle Scholar
  23. Benn, P. A., Warburton, D., Byrne, et al., 1983b, A fetus with a chromosome 13 ring and placenta with a chromosome rod/ring mosaicism, Prenat. Diagn. 3:297.PubMedCrossRefGoogle Scholar
  24. Benn, P. A., Hsu, L. Y. F., Perus, T., et al., 1984a, Prenatal diagnosis of chromosome mosaicism, Prenat. Diagn. 4:1.PubMedCrossRefGoogle Scholar
  25. Benn, P. A., Gilbert, F., and Hsu, L. Y. F., 1984b, Matemal cell contamination of amniotic fluid cultures from two consecutive pregnancies complicated by fibroids, Prenat. Diagn. 4:151.PubMedCrossRefGoogle Scholar
  26. Benn, P. A., Hsu, L. Y. F., Carlson, A., et al., 1985, The centralized Prenatal Genetics Screening Program of New York City III: The first 7000 cases, Am. J. Med. Genet. 20:369.PubMedCrossRefGoogle Scholar
  27. Beratis, N. G., Kardon, N. B., Hsu, L. Y. F., et al., 1972, Parental mosaicism in trisomy 18, Pediatrics 50:908.PubMedGoogle Scholar
  28. Bernstein, R., Dawson, B., and Griffiths, J., 1981, Human inherited marker chromosome 22 short arm enlargements. Investigation of rDNA gene multiplicity, Ag-band size, and acrocentric association, Hum. Gene. 58:135.CrossRefGoogle Scholar
  29. Birnholz, J., 1983, Determination of fetal sex, N. Engl. J. Med. 309:942.PubMedCrossRefGoogle Scholar
  30. Bixenman, H. A., Manning, M. A., Decker, C. J., et al., 1984, Matemal cell contamination mooted by amniocyte clones, Am. J. Med. Genet. 17:849.PubMedCrossRefGoogle Scholar
  31. Bosze, P., Laszlo, J., and Toth, A., 1982, Trisomy 20 mosaicism in amniotic fluid cells, Prenat. Diagn. 2:225.PubMedCrossRefGoogle Scholar
  32. Boué, A., and Gallano, P., 1984, A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses, Prenat. Diagn. (Special Issue) 4:45.Google Scholar
  33. Boué, J., Boué, A., and Lazar, P., 1975, Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions, Teratology 12:11.PubMedCrossRefGoogle Scholar
  34. Boué, J., Morer, I., Laisney, V., et al., 1979, Diagnostic prenatal: Resultats de 1532 ponctions amniotiques et étude prospective de 1023 cas, Nouv. Presse Med. 8:2949.PubMedGoogle Scholar
  35. Buck, D. W., Kenneth, R. H., and McGarrity, G., 1982, Monoclonal antibodies specific for cell culture mycoplasmas, In Vitro 18:377.PubMedCrossRefGoogle Scholar
  36. Buckton, K. E., O’Riordan, M. L., Ratcliffe, S., et al., 1980, A G-band study of chromosomes in live born infants, Ann. Hum. Genet. 43:223.CrossRefGoogle Scholar
  37. Bufton, L., Magenis, E., and Lovrien, E. W., 1982, Alpha-1 antitrypsin protease inhibitor (Pi) phenotypes in Down syndrome patients and their parents, Clin. Genet. 21:14.PubMedCrossRefGoogle Scholar
  38. Bui, T. H., Iselius, L., and Lindsten, J., 1984, European collaborative study on prenatal diagnosis, pseudomosaicism and single abnormal cell in amniotic fluid cell cultures, Prenat. Diagn. (Special Issue) 4:145.Google Scholar
  39. Burk, R. D., Stamberg, J., Young, K. E., et al., 1983, Use of repetitive DNA for diagnosis of chromosomal rearrangements, Hum. Genet. 64:339.PubMedCrossRefGoogle Scholar
  40. Cantu, J. M., Diaz, M., Moller, M., et al., 1985, Azoospermia and duplication 3qter as distinct consequences of a familial T(X;3)(q26;q13.2), Am. J. Med. Genet. 20:677.PubMedCrossRefGoogle Scholar
  41. Carr, D. H., and Gedeon, M. M., 1978, Q-banding of chromosomes in human spontaneous abortions, Can. J. Genet. Cytol. 20:415.PubMedGoogle Scholar
  42. Chandley, A. C., 1979, The Chromosomal basis of human infertility, Br. Med. Bull. 35:181.PubMedGoogle Scholar
  43. Chang, H. C., Jones, O. W., and Masui, H., 1982, Human amniotic fluid cells grown in a hormone-supplemented medium: suitability for prenatal diagnosis, Proc. Natl. Acad. Sci. USA 79:4795.PubMedCrossRefGoogle Scholar
  44. Chen, T. R., 1977, In situ detection of mycoplasma contamination in cell cultures by fluorescent Hoechst 33258 stain, Exp. Cell Res. 104:255.PubMedCrossRefGoogle Scholar
  45. Chen, T. R., Kao, M. L., Marks, J., et al., 1981, Polymorphic variants in human chromosome 15, Am. J. Med. Genet. 9:61.PubMedCrossRefGoogle Scholar
  46. Crandall, B. F., Lebherz, T. B., Rubinstein, L., et al., 1980, Chromosome findings in 2500 second trimester amniocenteses, Am. J. Med. Genet. 5:345.PubMedCrossRefGoogle Scholar
  47. Creasy, M. R., Crolla, J. A., and Alberman, E. D., 1976, A cytogenetic study of human spontaneous abortions using banding techniques, Hum. Genet. 3:177.CrossRefGoogle Scholar
  48. Crossen, P. E., 1975, Variation in the centromeric banding of chromosome 19, Clin. Genet. 8:218.PubMedCrossRefGoogle Scholar
  49. Cruikshank, D. P., Varner, M. W., Cruikshank, J. E., et al., 1983, Midtrimester amniocentesis: An analysis of 923 cases with neonatal follow-up, Am. J. Obstet. Gynecol. 146:204.PubMedGoogle Scholar
  50. Dacus, J. V., Wilroy, R. S., Summitt, R. L., et al., 1985, Genetic amniocentesis: A twelve year experience, Am. J. Med. Genet. 20:443.PubMedCrossRefGoogle Scholar
  51. Daniel, A., Stewart, L., Saville, T., et al., 1982, Prenatal diagnosis in 3,000 women for chromosome, X-linked and metabolic disorders, Am. J. Med. Genet. 11:61.PubMedCrossRefGoogle Scholar
  52. Davison, E. V., Roberts, D. F., and Callow, M. H., 1981, Satellite association in Down syndrome, Hum. Genet. 56:309.PubMedCrossRefGoogle Scholar
  53. Devine, E. A., Nolin, S. L., Houck, Jr., G. E., et al., 1985, Chromosomal localization of several families of repetitive sequencies by in situ hybridization, Am. J. Med. Genet. 37:114.Google Scholar
  54. DFG, 1981, Prenatal Diagnosis of Genetic Defects, 15th Newsletter of the West German collaborative study within the DFG programs, Munich, West Germany.Google Scholar
  55. Disteche, C., Luthy, D., Haslam, D. B., et al., 1984, Prenatal identification of a deleted Y chromosome by cytogenetics and a Y-specific repetitive DNA probe, Hum. Genet. 67:222.PubMedCrossRefGoogle Scholar
  56. Djalali, M., Steinbach, P., Schwinger, E., et al., 1985, On the significance of true trisomy 20 mosaicism in amniotic fluid culture, Hum. Genet. 69:321.PubMedCrossRefGoogle Scholar
  57. Docherty, Z., and Bowser-Riley, S. M., 1984, A rare heterochromatic variant of chromosome 4, J. Med. Genet. 21:470.PubMedCrossRefGoogle Scholar
  58. Docherty, Z., and Hulten, M. A., 1985, Extra euchromatic band in the qh region of chromosome 9, J. Med. Genet. 22:156.PubMedCrossRefGoogle Scholar
  59. Donlon, T. A., and Magenis, R. E., 1983, Methylgreen is a substitute for distamycin A in the formation of distamycin A/DAPI C bands, Hum. Genet. 65:144.PubMedCrossRefGoogle Scholar
  60. Dryja, T. P., Rapaport, J. M., Weichselbaum, R., et al., 1984, Chromosome 13 restriction fragment length polymorphisms, Hum. Genet. 65:320.PubMedCrossRefGoogle Scholar
  61. Editorial Comment, 1984, Perinatal pathology, Lancet 1:431.Google Scholar
  62. Elias, S., Gerbie, A. B., Simpson, J. L., et al., 1980, Genetic amniocentesis in twin gestations, Am. J. Obstet. Gynecol. 136:169.Google Scholar
  63. Ellis, P. M., and Bain, A. G., 1984, Cytogenetics in the evaluation of perinatal death, Lancet 1:630.PubMedCrossRefGoogle Scholar
  64. Erickson, J. D., 1979, Paternal age and Down syndrome, Am. J. Hum. Genet. 31:489.PubMedGoogle Scholar
  65. Fennel, S. J., Heaton, D. E., Marsden, H. B., et al., 1982, Antenatal detection of a 45,X/46,XY,6q+ chimera, J. Med. Genet. 19:459 (abstract).Google Scholar
  66. Ferguson-Smith, M. A., and Yates, J. R. W., 1984, Maternal age specific rates for chromosome aberrations and factors influencing them: Report of a collaborative European study on 52,965 amniocenteses, Prenat. Diagn. (Special Issue) 4:5.Google Scholar
  67. Ferguson-Smith, M. A., Alexander, P., Bowen, R. M., et al., 1964, Clinical and cytogenetical studies in female gonadal dysgenesis and their bearing on the cause of Turner’s syndrome, Cytogenetics 3:355.CrossRefGoogle Scholar
  68. Fialkow, P. J., 1966, Autoimmunity and chromosomal aberrations, Am. J. Med. Genet. 18:93.Google Scholar
  69. Filkins, K., Kushnick, T., Diamond, N., et al., 1978, Prenatal diagnosis of Down syndrome in one of dizygotic twins, Am. J. Obstet. Gynecol. 131:584.PubMedGoogle Scholar
  70. Filkins, K., Russo, J., Brown, T., et al., 1984, Genetic amniocentesis in multiple gestations, Prenat. Diagn. 4:223.PubMedCrossRefGoogle Scholar
  71. Fitzgerald, P. H., Donald, R. A., and McCormick, P., 1984, Reduced fertility in women with X chromosome abnormality, Clin. Genet. 25:301.PubMedCrossRefGoogle Scholar
  72. Freeman, M. V. W., Williams, D. W., Schimke, R. N., et al., 1974, The Roberts syndrome, Clin. Genet. 10:1.Google Scholar
  73. Friedrich, U., and Nielsen, J., 1973, Chromosome studies in 5,049 consecutive newborn children, Clin. Genet. 4:333.PubMedCrossRefGoogle Scholar
  74. Friesen, H., and Nishioka, Y., 1984, A molecular method for detecting the presence of the human Y chromosome, Am. J. Med. Genet. 18:289.PubMedCrossRefGoogle Scholar
  75. Frydman, M., Greensberg, D. A., Mohandas, T. K., et al., 1982, Comparison of fetal and maternal chromosome polymorphisms: Applications in prenatal diagnosis, Prenat. Diagn. 2:25.CrossRefGoogle Scholar
  76. Fryns, J. P., Kleczkowska, A., Kubien, E., et al., 1984, Cytogenetic survey in couples with recurrent fetal wastage, Hum. Genet. 65:336.PubMedCrossRefGoogle Scholar
  77. Fuchs, F., and Riis, R., 1956, Antenatal sex determination, Nature 177:330.PubMedCrossRefGoogle Scholar
  78. Funderburk, S. J., Spence, M. A., and Sparkes, R. S., 1977, Mental retardation associated with “balanced” chromosome rearrangements, Am. J. Hum. Genet. 29:136.PubMedGoogle Scholar
  79. Gardner, H. A., and Wood, E. M., 1979, Variation in chromosome 19, J. Med. Genet. 16:79.PubMedCrossRefGoogle Scholar
  80. Garret, C., Blunt, S., Daker, G., et al., 1983, Fetoscopy and fetal blood sampling in the management of twin pregnancy with 45,X/46,XX amniotic fluid cell mosaicism and a suspected fluid sampling error, Prenat. Diagn. 3:165.CrossRefGoogle Scholar
  81. Garver, K. L., Marchese, S. L., and Boas, E. G., 1976, Amniotic fluid culture failure: Possible role of syringe, N. Engl. J. Med. 295:286.PubMedGoogle Scholar
  82. Geisler, M., and Kleinebrecht, J., 1978, Cytogenetic and histologic analyses of spontaneous abortions, Hum. Genet. 45:239.PubMedCrossRefGoogle Scholar
  83. Gerald, P. S., and Walzer, S., 1970, Chromosome studies of normal newborn infants, in: Human Population Cytogenetics (P. A. Jacobs, W. H. Price, and P. Law, eds.), p. 143, Edinburgh University Press, Edinburgh.Google Scholar
  84. German, J., 1979, Robert’s syndrome I. Cytological evidence for a disturbance in chromatid pairing, Clin. Genet. 16:441.PubMedCrossRefGoogle Scholar
  85. Gimelli, G., Cuoco, C., Porro, E., et al., 1983, Prenatal diagnosis, fetal pathology and cytogenetic analysis of 46,XX/47,XX,+ 15 mosaic, Prenat. Diagn. 3:75.PubMedCrossRefGoogle Scholar
  86. Golbus, M. S., Bachman, R., Wiltse, S., et al., 1976, Tetraploidy in a liveborn infant, J. Med. Genet. 13:329.PubMedCrossRefGoogle Scholar
  87. Golbus, M. S., Loughman, W. D., Epstein, C. J., et al., 1979, Prenatal genetic diagnosis in 3000 amniocenteses, N. Engl. J. Med. 300:157.PubMedCrossRefGoogle Scholar
  88. Goldstein, A. I., and Stills, S. M., 1983, Midtrimester amniocentesis in twin pregnancies, Obstet. Gynecol. 62:659.PubMedGoogle Scholar
  89. Gosden, C.M., and Brock, D. J. H., 1977, Morphology of rapidly adhering amniotic fluid cells as an aid to the diagnosis of neural tube defects, Lancet 1:919.PubMedCrossRefGoogle Scholar
  90. Grass, F., McCombs, J., Scott, C. I., et al., 1984, Reproduction in XYY males. Two new cases and implications for genetic counseling, Am. J. Med. Genet. 19:553.PubMedCrossRefGoogle Scholar
  91. Greenberg, F., Elsas, N. T., Reidy, J. A., et al., 1982, Autosomal mosaicism in amniotic fluid cells from a twin pregnancy, Am. J. Med. Genet. 11:109.PubMedCrossRefGoogle Scholar
  92. Greenberg, F., Elsas, N. T., Reidy, J. A., et al., 1983, Dye use in twin gestation, Am. J. Med. Genet. 14:395.PubMedCrossRefGoogle Scholar
  93. Grewal, M. S., Ridler, M. A. C., and Barber, J., 1985, Further examples of trisomy 20 mosaicism in amniotic cell cultures, Prenat. Diagn. 5:159.PubMedCrossRefGoogle Scholar
  94. Hamerton, J. L-, 1971, Chromosome mutation II:IV reciprocal translocation in man, in: Human Cytogenetics, Vol. I, p. 254, Academic Press, New York.Google Scholar
  95. Hamerton, J. L., 1984, Introduction. Collaborative studies in perinatal diagnosis of chromosome aberration, Prenat. Diagn. (Special Issue) 4:3.Google Scholar
  96. Hamerton, J. L., Canning, N., Ray, M., et al., 1975, A cytogenetic survey of 14,069 newborn infants, Clin. Genet. 8:223.PubMedCrossRefGoogle Scholar
  97. Hamerton, J. L., Boué, A., Cohen, M. M., et al., 1980, Chromosome disease, in: Prenatal Diagnosis Past, Present and Future (Report of an International Workshop) (J. L. Hamerton and N. E. Simpson, eds.), Prenat. Diagn. (Special Issue) 1980:11.Google Scholar
  98. Hansen, A., and Mikkelsen, M., 1974, An increased tendency to satellite association of human chromosome 21: A factor in the etiology of Down syndrome, IRCS Anat. Pediatr. Psychiatry 2:1617.Google Scholar
  99. Hassold, T., Chen, N., Funkhouser, J., et al., 1980, A cytogenetic study of 1000 spontaneous abortions, Ann. Hum. Genet. 44:151.PubMedCrossRefGoogle Scholar
  100. Hauge, M., Poulsen, H., Halberg, A., et al., 1975, The value of fluorescence markers in the distinction between maternal and fetal chromosomes, Hum. Genet. 26:187.Google Scholar
  101. Hecht, B. K., Berger, C. S., Hecht, F., et al., 1982, Lymphocyte culture failure due to toxic tubes, Am. J. Hum. Genet. 34:826.PubMedGoogle Scholar
  102. Hecht, F., and Kaiser-Hecht, B., 1982, 45,X/46,XY chromosome mosaicism detected by mid-trimester amniocentesis in amniocyte clones, Prenat. Diagn. 2:233.PubMedCrossRefGoogle Scholar
  103. Hecht, F., Peakman, D. C., Kaiser-McCaw, B., et al., 1981, Amniocyte clones for prenatal cytogenetics, Am. J. Med. Genet. 10:51.PubMedCrossRefGoogle Scholar
  104. Heller, R. H., and Palmer, L. S., 1978, Trisomy 21 in one of twin fetuses, Pediatrics 62:52.PubMedGoogle Scholar
  105. Hellkuhl, B., and Grzeschik, K. H., 1983, Elimination of mycoplasma contamination from mammalian cell cultures by the bibenzimidazole derivation Hoechst 33258, Cytogenet. Cell Genet. 36:584.PubMedCrossRefGoogle Scholar
  106. Hobbins, J., 1983, Determination of fetal sex in early pregnancy, N. Engl. J. Med. 309:979.PubMedCrossRefGoogle Scholar
  107. Hook, E. B., 1977, Exclusion of chromosome mosaicism: Tables of 90%, 95% and 99% confidence limits and comments on use, Am. J. Hum. Genet. 29:94.PubMedGoogle Scholar
  108. Hook, E. B., 1978a, Rates of Down’s syndrome in livebirths and at mid-trimester amniocentesis, Lancet 1:1053.PubMedCrossRefGoogle Scholar
  109. Hook, E. B., 1978b, Spontaneous deaths of fetuses with chromosomal abnormalities diagnosed prenatally, N. Engl. J. Med. 299:1036.PubMedCrossRefGoogle Scholar
  110. Hook, E. B., 1983, Chromosome abnormalities and spontaneous fetal death following amniocentesis: Further data and associations with maternal age, Am. J. Hum. Genet. 35:110.PubMedGoogle Scholar
  111. Hook, E. B., and Cross, P. K., 1982, Paternal age and Down’s syndrome genotypes diagnosed prenatally: No association in New York State data, Hum. Genet. 62:167.PubMedCrossRefGoogle Scholar
  112. Hook, E. B., and Regal, R. R., 1984, A search for a paternal age effect upon cases of 47,+ 21 in which the extra chromosome is of paternal origin, Am. J. Hum. Genet. 36:413.PubMedGoogle Scholar
  113. Hook, E. B., Cross, P. K., and Schreinemachers, D., 1981a, The evolution of the New York State Chromosome Registry, in: Population and Biological Aspects of Human Mutation (E. B. Hook and I. H. Porter, eds.), p. 389, Academic Press, New York.Google Scholar
  114. Hook, E. B., Cross, P. K., Lamson, S. H., et al., 1981b, Paternal age and Down syndrome in British Columbia, Am. J. Hum. Genet. 33:123.PubMedGoogle Scholar
  115. Hook, E. B., Schreinmachers, D. M., Willey, A. M., et al., 1983, Rates of mutant structural chromosome rearrangements in human fetuses, data from prenatal cytogenetic studies and associations with maternal age and mutagen exposures, Am. J. Hum. Genet. 35:96.PubMedGoogle Scholar
  116. Hook, E. B., Schreinemachers, D. M., Willey, A. M., et al., 1984, Inherited structural cytogenetic abnormalities detected incidentally in fetuses diagnosed prenatally. Frequency, parental-age associations, sex-ratio trends and comparisons with rates of mutants, Am. J. Hum. Genet. 36:422.PubMedGoogle Scholar
  117. Howell, R. T., McDermott, A., and Gregson, N. M., 1983, Syringe toxicity in amniotic fluid cultures, Lancet 1:1099.PubMedCrossRefGoogle Scholar
  118. Hsu, L. Y. F., 1980, Prenatal cytogenetic diagnosis: A minireview, in: Perinatal Medicine Today (B. Young, ed.), p. 3, Liss, New York.Google Scholar
  119. Hsu, L. Y. F., and Benn, P. A., 1981, The centralized prenatal genetics screening program of New York City II. Establishment of prenatal diagnosis laboratory, Am. J. Med. Genet. 8:331.PubMedCrossRefGoogle Scholar
  120. Hsu, L. Y. F., and Hirschhorn, K., 1977, Numerical and structural chromosome abnormalities, in: Handbook of Teratology, vol. 2. (J. G. Wilson and F. Clark-Fraser, eds.), p. 41, Plenum Press, New York.Google Scholar
  121. Hsu, L. Y. F., and Pedis, T., 1984, United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis, Prenat. Diagn. (Special Issue) 4:97.Google Scholar
  122. Hsu, L. Y. F., Gertner, M., Leiter, E., et al., 1971, Paternal trisomy 21 mosaicsm and Down syndrome, Am. J. Hum. Genet. 23:592.PubMedGoogle Scholar
  123. Hsu, L. Y. F., Garcia, F. P., Grossman, D., et al., 1972, Fetal wastage and maternal mosaicism, Obstet. Gynecol. 40:98.PubMedGoogle Scholar
  124. Hsu, L. Y. F., Kim, H. J., Paciuc, S., et al., 1974, Nonfluorescent and non-heterochromatic Y chromosomes in 45,X/46,XY mosaicism, Ann. Genet. (Paris) 17:5.Google Scholar
  125. Hsu, L. Y. F., Serotin, A., and Hirschhorn, K., 1976, Identification of macrophages in amniotic fluid cell cultures, Lancet 1:799.PubMedCrossRefGoogle Scholar
  126. Hsu, L. Y. F., Kaffe, S., Yahr, F., et al., 1978, Prenatal cytogenetic diagnosis: First 1000 successful cases, Am. J. Med. Genet. 2:365.PubMedCrossRefGoogle Scholar
  127. Hsu, L. Y. F., Benn, P. A., Tannenbaum, H. L., et al., 1986, Chromosome polymorphisms of 1, 9, 16 and Y in four major ethnic groups—A large prenatal study, Am. J. Med. Genet, (in press).Google Scholar
  128. Hunter, A., Brierly, K., and Tomkins, D., 1982, 46,XX/46,XY chromosome complement in amniotic fluid cell culture followed by the birth of a normal female child, Prenat. Diagn. 2:127.PubMedCrossRefGoogle Scholar
  129. Husslein, P., Huber, J., Wagenbichler, P., et al., 1982, Chromosome abnormalities in 150 couples with multiple spontaneous abortions, Fertil. Steril. 37:379.PubMedGoogle Scholar
  130. Hutz, M. H., Michelson, A. M., Antonarakis, S. E., et al., 1984, Restriction site polymorphism in the phosphoglycerate kinase gene on the S chromosome, Hum. Genet. 66:217.PubMedCrossRefGoogle Scholar
  131. Iinuma, K., Wertelecki, W., and Dev, V. G., 1984, Yqs in an American family of Scottish descent, Hum. Genet. 68:350.PubMedCrossRefGoogle Scholar
  132. Jackson-Cook, C. K., Flannery, D. B., Corey, L. A., et al., 1984, The double NOR variant: A risk factor in trisomy 21, Am. J. Hum. Genet. 36:97S (abstract 285).Google Scholar
  133. Jacobs, P. A., 1974, Correlation between euploid structural chromosome rearrangements and mental subnor-mality in humans, Nature 249:164.PubMedCrossRefGoogle Scholar
  134. Jacobs, P. A., 1981, Mutation rates of structural chromosome rearrangements in man, Am. J. Hum. Genet. 33:44.PubMedGoogle Scholar
  135. Jacobs, P. A., and Mayer, M., 1981, The origin of human trisomy: A study of heteromorphisms and satellite associations, Ann. Hum. Genet. 45:357.PubMedCrossRefGoogle Scholar
  136. Jacobs, P. A., Melville, M., Ratcliff, S., et al., 1974, A cytogenetic survey of 11,680 newborn infants, Ann. Hum. Genet. 37:359.PubMedCrossRefGoogle Scholar
  137. Jalbert, P., and Sele, B., 1979, Factors predisposing to adjacent 2 and 3:1 disjunctions: Study of 161 human reciprocal translocations, J. Med. Genet. 16:467.PubMedCrossRefGoogle Scholar
  138. Jongbloet, P. H., Frants, R. R., and Hamers, A. J., 1981, Parental alpha1 antitrypsin (PI) types and meiotic nondisjunction in the etiology of Down syndrome, Clin. Genet. 20:304.PubMedCrossRefGoogle Scholar
  139. Jordan, D. K., Taysi, K., and Blackwell, N. L., 1980, Familial pericentric inversion of 19, J. Med. Genet. 17:222.PubMedCrossRefGoogle Scholar
  140. Kaffe, S., Hsu, L. Y. F., and Hirschhorn, K., 1974, Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down syndrome, J. Med. Genet. 11:378.PubMedCrossRefGoogle Scholar
  141. Kajii, T., Ohama, K., and Mikamo, K., 1978, Anatomic and chromosomal anomalies in 944 induced abortuses, Hum. Genet. 43:247.PubMedCrossRefGoogle Scholar
  142. Kajii, T., Ferrier, A., Niikawa, N., et al., 1980, Anatomic and chromosomal anomalies in 639 spontaneous abortuses, Hum. Genet. 55:87.PubMedCrossRefGoogle Scholar
  143. Kalousek, D. K., and Dill, F. J., 1983, Chromosomal mosaicism confined to the placenta in human conceptions, Science 221:665.PubMedCrossRefGoogle Scholar
  144. Kazi, Z., Rozovsky, I. S., and Bakharev, V. A., 1982, Chorion biopsy in early pregnancy: A method for early prenatal diagnosis for inherited disorders, Prenat. Diagn. 2:39.CrossRefGoogle Scholar
  145. Kerenyi, T. D., and Chitkara, U., 1981, Selective birth in twin pregnancy with discordancy for Down syndrome, N. Engl. J. Med. 304:1525.PubMedCrossRefGoogle Scholar
  146. Kim, H. J., Hsu, L. Y. F., Paciuc, S., et al., 1975, Cytogenetics of fetal wastage, N. Engl. J. Med. 293:844.PubMedCrossRefGoogle Scholar
  147. Knight, L. A., and Mann, J., 1983, Maternal contamination in prenatal diagnosis, Prenat. Diagn. 3:155.PubMedCrossRefGoogle Scholar
  148. Knight, L. A., Lawce, H., Wcislo, K. L. et al., 1984, Prenatal diagnosis of 45,X/46,XX mosaicism: True mosaicism in only one of four primary cultures, Prenat. Diagn. 4:143.PubMedCrossRefGoogle Scholar
  149. Kohn, G., 1981, Failure of amniotic fluid cell cultures due to syringe toxicity, Prenat. Diagn. 1:233.PubMedCrossRefGoogle Scholar
  150. Kohn, G., and Robinson, A., 1970, Tetraploidy in cells cultured from amniotic fluid, Lancet 2:778.PubMedCrossRefGoogle Scholar
  151. Kuleshov, N. P., 1976, Chromosome anomalies of infants dying during the perinatal period and premature newborn, Hum. Genet. 31:151.PubMedCrossRefGoogle Scholar
  152. Kutupanya, A., and Wiest, W. G., 1978, Amniotic fluid testosterone concentration as an index of fetal sex, Pediatr. Res. 12:708.CrossRefGoogle Scholar
  153. Lau, Y. F., Wertelecki, W., Pfeiffer, R. A., et al., 1979, Cytological analyses of a 14p-t- variant by means of N banding and combinations of silver staining and chromosome bandings, Hum. Genet. 46:75.PubMedCrossRefGoogle Scholar
  154. Ledbetter, D. H., Dumars, K. W., Carpenter, R. J., et al., 1982, Amniotic fluid cell culture failure and syringe toxicity revisited, Am. J. Hum. Genet. 34:823.PubMedGoogle Scholar
  155. Leonard, P., Rendle-Short, J., and Skardoon, L., 1982, Roberts-SC phocomelia syndrome with cytogenetic findings, Hum. Genet. 60:379.PubMedCrossRefGoogle Scholar
  156. Leschot, N. J., Verjaal, M., Gravenhorst, J. B., et al., 1977, An unusual case of prenatal diagnosis in twin pregnancy, Clin. Genet. 11:441.PubMedGoogle Scholar
  157. Lin, C. C., Gedeon, M. M., Griffith, P., et al., 1976, Chromosome analysis in 930 consecutive newborn children using quinacrine fluorescent banding technique, Hum. Genet. 31:313.CrossRefGoogle Scholar
  158. Loft, A., and Tabor, A., 1984, Discordance between prenatal cytogenetic diagnosis and outcome of pregnancy, Prenat. Diagn. 4:51.PubMedCrossRefGoogle Scholar
  159. Long, W. S., Mennuti, M. I., Emanuel, B. S., et al., 1984, Prenatal diagnosis of mosaicism 46,XX/46,XX,-21,+t(21q21q), Prenat. Diagn. 4:73.PubMedCrossRefGoogle Scholar
  160. Louie, E., and German, J., 1981, Robert’s syndrome II. Aberrant Y chromosome behavior, Clin. Genet. 19:71.PubMedCrossRefGoogle Scholar
  161. Lubs, H. A., and Ruddle, F. H., 1970, Chromosomal abnormalities in the human population: Estimation of rates based on New Haven newborn study, Science 169:495.PubMedCrossRefGoogle Scholar
  162. Lubs, H. A., Patil, S.A., Kimberling, W. J., et al., 1977, Q & C banding polymorphisms in 7 & 8 year old children: Racial differences and clinical significances, in: Population Cytogenetics and Studies in Humans (E. B. Hook, and I. H. Porter, eds.), p. 133, Academic Press, New York.Google Scholar
  163. Lyberatou-Maraitou, E., Grigori-Kostaraki, P., Retzepopoulou, Z., et al., 1983a, Cytogenetics of recurrent abortions, Clin. Genet. 23:294.CrossRefGoogle Scholar
  164. Lyberatou-Maraitou, E., Grigori-Kostaraki, P., Goulandris, N., et al., 1983b, An azoospermic male with presumably balanced reciprocal translocation, Clin. Genet. 23:391.CrossRefGoogle Scholar
  165. MacGillivray, I., Nylander, P. O. S., Corney, G., et al., 1975, Human Multiple Reproduction, Saunders, London.Google Scholar
  166. Machin, G. A., and Crolla, J. A., 1974, Chromosome constitution of 500 infants dying during the perinatal period, Humangenetik 23:183.PubMedGoogle Scholar
  167. Macintyre, M. N., 1971, Chromosomal problems of intrauterine diagnosis, Birth Defects Orig. Artie. Ser. VH(5):10.Google Scholar
  168. Madan, K., 1978, An extra band in human 9qh+ chromosomes, Hum. Genet. 43:259.PubMedCrossRefGoogle Scholar
  169. Maeda, T., Ohno, M., Takeda, M., et al., 1978, A cytogenetic survey of consecutive liveborn infants— Incidence and type of chromosome abnormalities, Jpn. J. Hum. Genet. 23:217.CrossRefGoogle Scholar
  170. Mann, N. P., Fitzsimmons, J., Fitzsimmons, E., et al., 1982, Robert’s syndrome: Clinical and cytogenetic aspects, J. Med. Genet. 19:116.PubMedCrossRefGoogle Scholar
  171. Mardh, P. A., 1975, Elimination of mycoplasmas from cell cultures with sodium polyanethol sulphonate, Nature 254:515.PubMedCrossRefGoogle Scholar
  172. Martens, P., Wilroy, S., Tharapel, A., et al., 1984, Cytogenetic findings in 255 couples referred for multiple fetal loss, Am. J. Hum. Genet. 36:103s (abstract 303).Google Scholar
  173. Martin, A. O., Trakas, N., and Albrecht-Buehler, G., 1983, Cell locomotion: A potential pitfall of the in situ method of detecting mosaicism, Am. J. Hum. Genet. 35:142A (abstract 424).Google Scholar
  174. Mascarello, J. T., Chadwick, D. L., and Moyers, T. G., 1980, Trisomy 20 mosaicism in amniotic fluid cells, Lancet 2:1089.CrossRefGoogle Scholar
  175. Matsungaga, E., Tonomura, A., Oishi, H., et al., 1978, Re-examination of paternal age effect in Down syndrome, Hum. Genet. 40:259.CrossRefGoogle Scholar
  176. Mattei, J. F., Mattei, M. G., Ayme, S., et al., 1974, Etude chromosomique chez les parents d’enfants trisomiques 21: Associations entre chromosomes acrocentriques, Humangenetik 25:29.PubMedGoogle Scholar
  177. McGarrity, G. J., Vananman, V., and Sarama, J., 1984, Cytogenetic effects of mycoplasmal infection of cell cultures: A review, In Vitro 20:1.PubMedCrossRefGoogle Scholar
  178. McKenzie, W. H., and Lubs, H. A., 1975, Human Q & C chromosomal variations: Distribution and incidence, Cytogenet. Cell Genet. 14:97.PubMedCrossRefGoogle Scholar
  179. Mehes, K., 1973, Paternal trisomy 21 mosaicism and Down’s anomaly, Humangenetik 17:297.PubMedGoogle Scholar
  180. Mennuti, M. T., Wu, C. H., Mellman, W. J., et al., 1977, Amniotic fluid testosterone and follicle stimulating hormone levels as indicators of fetal sex during mid-pregnancy, AM. J. Med. Genet. 1:211.PubMedCrossRefGoogle Scholar
  181. Michels, V. V., Medrano, C., Venne, V. L., et al., 1982, Chromosome translocations in couples with multiple spontaneous abortions, Am. J. Hum. Genet. 34:507.PubMedGoogle Scholar
  182. Mikkelsen, M., and Stene, J., 1979, Previous child with Down syndrome and other chromosome aberration-Group report, in: Prenatal Diagnosis: Proceedings of the 3rd European Conference on Prenatal Diagnosis of Genetic Disorders (J. D. Murken, S. Stengel-Rutkowski, and E. Schwinger, eds.), p. 22, Enke, Stuttgart.Google Scholar
  183. Miller, D. A., Breg, W. R., Warburton, D., et al., 1978, Regulation of rRNA gene expression in a human familial 14p+ marker chromosome, Hum. Genet. 43:289–297.PubMedCrossRefGoogle Scholar
  184. Milunsky, A., 1979, The prenatal diagnosis of chromosomal disorders, in: Genetic Disorders and the Fetus (A. Milunsky, ed.), p. 93, Plenum Press, New York.CrossRefGoogle Scholar
  185. Milunsky, A., and Bender, C. S., 1979, Failure of amniotic fluid cell growth with toxic tubes, N. Engl. J. Med. 301:47.PubMedGoogle Scholar
  186. Miny, P., and Pawlowitzki, I. H., 1984, Trisomy 20 mosaicism, Prenat. Diagn. 4:411.PubMedCrossRefGoogle Scholar
  187. Mohandas, T., Canning, N., Chu, W., et al., 1985, Marker chromosomes: Cytogenetic characterization and implication for prenatal diagnosis, AM. J. Med. Genet. 20:361.PubMedCrossRefGoogle Scholar
  188. Mollekaer, A. M., Jensen, P. K. A., Friederich, U., et al., 1984, Four cases of prenatal diagnosis of trisomy 20 mosaicism with a follow-up investigation, Clin. Genet. 26:265.CrossRefGoogle Scholar
  189. Moreau, N., and Teyssier, M., 1984, Whole arm translocation t(l;13) in an infertile man, J. Med. Genet. 21:234.PubMedCrossRefGoogle Scholar
  190. Mueller, R. F., Sybert, V. P., Johnson, J., et al., 1983, Evaluation of a protocol for post-mortem examinations of stillbirths, N. Engl. J. Med. 309:586.PubMedCrossRefGoogle Scholar
  191. Muneer, R. S., Himes, J. R., Payne-Howell, R. M., et al., 1984, A supernumerary microchromosome in amniotic fluid cell cultures and talipse equinovarus in a liveborn female, Clin. Genet. 26:477.PubMedCrossRefGoogle Scholar
  192. Najafzadeh, T. M., Cahill, T. C., and Dumars, K. W., 1982, Prenatal detection of chromosomal mosaicism, Prenat. Diagn. 2:7.CrossRefGoogle Scholar
  193. Naylor, S. L., Sakaguchi, A. Y., Barker, D., et al., 1984, DNA polymorphic loci mapped to human chromosomes 3, 5, 9, 11, 17, 18, and 22, Proc. Natl. Acad. Sci. USA 81:2447.PubMedCrossRefGoogle Scholar
  194. Neri, G., 1984, A possible explanation for the low incidence of gonosomal aneuploidy among the offspring of triplo-X individuals, Am. J. Med. Genet. 18:357.PubMedCrossRefGoogle Scholar
  195. Niazi, M., Coleman, D. V., Mowbray, J. F., et al., 1979, Tissue typing amniotic fluid cells: Potential use for detection of contaminating maternal cells, J. Med. Genet. 16:21.PubMedCrossRefGoogle Scholar
  196. Niazi, M., Coleman, D. V., and Loeffler, F. E., 1981, Trophoblast sampling in early pregnancy. Cultures of rapidly dividing cells from immature placental villi, Br. J. Obstet. Gynaecol. 88:1081.PubMedCrossRefGoogle Scholar
  197. NICHD National Registry for Amniocentesis Study Group, 1976, Midtrimester amniocentesis for prenatal diagnosis. Safety and accuracy, J. Am. Med. Assoc. 236:1471.CrossRefGoogle Scholar
  198. Nielsen, J., and Silesen, I., 1975, Incidence of chromosome aberrations among 11,148 newborn children, Humangenetik 30:1.PubMedCrossRefGoogle Scholar
  199. Nielsen, J., and Krag-Olsen, B., 1981, Follow-up of 32 children with autosomal translocations found among 11,148 consecutively newborn children from 1969–1974, Clin. Genet. 20:48.PubMedCrossRefGoogle Scholar
  200. Nielsen, J., Friedrich, U., and Hreidarsson, A. B., 1974, Frequency of deletion of short arm satellites in acrocentric chromosomes, J. Med. Genet. 11:177.PubMedCrossRefGoogle Scholar
  201. Nielsen, J., Wohlert, M., Faaborg-Andersen, J., et al., 1982, Incidence of chromosome abnormalities in newborn children. Comparison between incidence in 1969–1974 and 1980–1982 in the same area, Hum. Genet. 61:98.PubMedCrossRefGoogle Scholar
  202. Nocera, G., Dalpra, L., Tibiletti, M. G., et al., 1985, Five cases of prenatally diagnosed sex chromosome mosaicism, Prenat. Diagn. 5:169.PubMedCrossRefGoogle Scholar
  203. Okamoto, E. D., Miller, D. A., Erlanger, B. F., et al., 1981, Polymorphism of 5-methyl-cytosine-rich DNA in human acrocentric chromosomes, Hum. Genet. 58:255.PubMedCrossRefGoogle Scholar
  204. Osztovics, M. K., Toth, S. P., and Wessely, J. A., 1982, Cytogenetic investigations in 418 couples with recurrent fetal wastage, Ann. Genet. 25:232.PubMedGoogle Scholar
  205. Padre-Mendozosa, T., Kleiner, M., and Hann, E., 1979, Trisomy 6 mosaicism in amniotic fluid cells, Am. J. Hum. Genet. 31:106A (abstract 359).Google Scholar
  206. Pantzar, J. T., Allanson, J. E., Kalousek, D. K. et al., 1984, Cytogenetic findings in 318 couples with repeated spontaneous abortion: A review of experience in British Columbia, Am. J. Med. Genet. 17:615.PubMedCrossRefGoogle Scholar
  207. Papp, Z., Csecsei, K., Skapinyecz, J., et al., 1974a, Paternal normal/trisomy 21 mosaicism as an indication for amniocentesis, Clin. Genet. 6:192.PubMedCrossRefGoogle Scholar
  208. Papp, Z., Gardo, S., and Dolhay, B., 1974b, Chromosome study of couples with repeated spontaneous abortions, Fertil. Steril. 25:713.PubMedGoogle Scholar
  209. Peakman, D. C., Moreton, M. F., and Robinson, A., 1977, Prenatal diagnosis: Technique used to help in ruling out maternal cell contamination, J. Med. Genet. 14:37.PubMedCrossRefGoogle Scholar
  210. Petres, R. E., and Redwine, F. O., 1981, Selective birth in twin pregnancy, N. Engl. J. Med. 305:1218.CrossRefGoogle Scholar
  211. Petrosky, D. L., and Borgaonkar, D. S., 1984, Segregation analysis in reciprocal translocation carriers, Am. J. Med. Genet. 19:137.PubMedCrossRefGoogle Scholar
  212. Pfeiffer, R. A., Ulmer, R., Kniewald, A., et al., 1984, Prenatal diagnosis of trisomy 9 mosaicism possibly limited to fetal membranes, Prenat. Diagn. 4:387.PubMedCrossRefGoogle Scholar
  213. Philip, J., and Lundsteen, C., 1985, Semiautomated chromosome analysis, Clin. Genet. 27:140.PubMedCrossRefGoogle Scholar
  214. Philip, J., Tabor, A., Bang, J., et al., 1983, Fetal chromosome analysis screening for chromosome disease, Prenat. Diagn. 3:209.PubMedCrossRefGoogle Scholar
  215. Pitt, D., Leversha, M., Sinfield, C., et al., 1981, Tetraploidy in a liveborn with spina bifida and other anomalies, J. Med. Genet. 18:309–311.PubMedCrossRefGoogle Scholar
  216. Polani, P. E., 1971, Prenatal cytological recognition of sex-linked and chromosomal abnormalities, J. Obstet. Gynecol. Br. Communw. 78:1024.CrossRefGoogle Scholar
  217. Polani, P. E., Alberman, E., Alexander, B. J., et al., 1979, Sixteen years experience of counseling, diagnosis and prenatal detection in one genetic center: Progress, results and problems, J. Med. Genet. 16:166.PubMedCrossRefGoogle Scholar
  218. Porreco, R. P., Young, P. E., Resnik, R., et al., 1982, Reproductive outcome following amniocentesis for genetic indications, Am. J. Obstet. Gynecol. 143:653.PubMedGoogle Scholar
  219. President’s Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Science, 1983, Screening and Counseling for Genetic Conditions. U.S. Government Printing Office, Washington, D.C.Google Scholar
  220. Purvis-Smith, S. G., Jones, M. A., and Wertelecki, W., 1978, Amniotic fluid cell culture failure and syringe toxicity, Lancet 1:993.PubMedCrossRefGoogle Scholar
  221. Qazi, Q. H., Kassner, E. G., Masakawa, A., et al., 1979, The SC phocomelia syndrome: Report of two cases with cytogenetic abnormality, Am. J. Med. Genet. 4:231.PubMedCrossRefGoogle Scholar
  222. Quiroz, E., Orozco, A., and Salamanca, F., 1985, Diploid-tetraploid mosaicism in a malformed boy, Clin. Genet. 27:183.PubMedCrossRefGoogle Scholar
  223. Redwine, F. O., and Petres, R. E., 1983, Selective birth in a twin pregnancy: Case report and review, in: Antenatal Treatment of Fetal Disease, p. 152, Medical College of Virginia, Richmond, Virginia.Google Scholar
  224. Retief, A. E., Van Zyl, J. A., Menkveld, R., et al., 1984, Chromosome studies in 496 infertile males with a sperm count below 10 million/ml, Hum. Genet. 66:162.PubMedCrossRefGoogle Scholar
  225. Reyes, P. G., Hsu, L. Y. F., Strauss, L., et al., 1978, Trisomy 8 mosaicism syndrome. Report of monozygotic twins, Clin. Genet. 14:90.PubMedCrossRefGoogle Scholar
  226. Richards, B. W., 1974, Investigation of 142 mosaic mongols and mosaic parents of mongols: Cytogenetic analysis and maternal age at birth, J. Ment. Defic. Res. 18:199.PubMedGoogle Scholar
  227. Robinson, A., Bender, B., Borelli, J., et al., 1982, Sex chromosomal abnormalities (SCA): A prospective and longitudinal study of newborns identified in an unbiased manner, Birth Defects Orig. Artic. Ser. XVIII:7Google Scholar
  228. Robinson, A., Bender, B., Borelli, J., et al., 1983, Sex chromosome anomalies: Propsective studies in children, Behav. Genet. 13:321.PubMedCrossRefGoogle Scholar
  229. Robinson, J. A., and Newton, M., 1977, A fluorescence polymorphism associated with Down syndrome, J. Med. Genet. 14:40.PubMedCrossRefGoogle Scholar
  230. Rodeck, C. H., Mibashan, R. S., Abramowicz, J., et al., 1982, Selective feticide of the affected twin by fetoscopic air embolism, Prenat. Diagn. 2:189.PubMedCrossRefGoogle Scholar
  231. Roecker, G. O., and Huether, C. A., 1983, An analysis for paternal age effect in Ohio’s Down syndrome births 1970–1980, Am. J. Hum. Genet. 35:1297.PubMedGoogle Scholar
  232. Rook, A., Hsu, L. Y., Gertner, M., et al., 1971, Identification of Y and X chromosomes in amniotic fluid cells, Nature 230:53.PubMedCrossRefGoogle Scholar
  233. Roth, M. P., Stoll, C., Taillemite, J. L., et al., 1983, Paternal age and Down syndrome diagnosed prenatally: No association in French data, Prenat. Diagn. 3:327.PubMedCrossRefGoogle Scholar
  234. Russell, W. C., Newman, C., and Williamson, D. H., 1975, A simple cytochemical technique for demonstration of DNA in cells infected with mycoplasmas and viruses, Nature 253:461.PubMedCrossRefGoogle Scholar
  235. Salk, D., 1982, Werner’s syndrome: A review of recent research with an analysis of connective tissue metabolisms, growth control of cultured cells and chromosomal aberrations, Hum. Genet. 62:1.PubMedCrossRefGoogle Scholar
  236. Sandberg, A. A., 1980, Chromosome breakage syndromes, in: The Chromosomes in Human Cancer and Leukemia (A. A. Sandberg, ed.), p. 152, Elsevier, New York.Google Scholar
  237. Scarbrough, P. R., Hersh, J., Kukolich, M. K., et al., 1984, Tetraploidy: A report of three liveborn infants, Am. J. Med. Genet. 19:29.PubMedCrossRefGoogle Scholar
  238. Schmid, M., Haaf, T., Solleder, E., et al., 1984, Satellited Y chromosomes: Structure, origin, and clinical significance, Hum. Genet. 67:72.PubMedCrossRefGoogle Scholar
  239. Schmidt, J., and Erfle, V., 1984, Elimination of mycoplasmas from cell cultures and establishment of mycoplasma free cell lines Exp. Cell Res. 152:565.PubMedCrossRefGoogle Scholar
  240. Schneider, E. L., and Stanbridge, E. J., 1975, Mycoplasma contamination of cultured amniotic fluid cells: Potential hazard to prenatal chromosome diagnosis, Science 184:477.CrossRefGoogle Scholar
  241. Schreinemachers, D. M., and Hook, E. B., 1984, Prenatal Cytogenetic Utilization in New York State 1979–1982, by County and HS A Region, Report from the New York State Chromosome Registry.Google Scholar
  242. Schreinemachers, D. M., Cross, P. K., and Hook, E. B., 1982, Rates of trisomies 21, 18, 13 and other chromosome abnormalities in about 20,000 prenatal studies compared with estimated rates in livebirths, Hum. Genet. 61:318.PubMedCrossRefGoogle Scholar
  243. Schroeder, T. M., 1982, Genetically determined chromosome instability syndromes, Cytogenet. Cell Genet. 33:119.PubMedCrossRefGoogle Scholar
  244. Schwartz, S., and Palmer, C., 1983, Chromosomal findings in 164 couples with repeated spontaneous abortions: With special consideration to prior reproductive history, Hum. Genet. 62:28.CrossRefGoogle Scholar
  245. Schwartz, S., Flannery, D. B., and Cohen, M. M., 1985, Tests appropriate for the prenatal diagnosis of ataxia telangiectasia, Prenat. Diagn. 5:9.PubMedCrossRefGoogle Scholar
  246. Schweizer, D., Ambros, P., and Andrle, M., 1978, Modification of DAPI banding on human chromosomes by pre-staining with a DNA binding oligopeptide antibiotic, distamycin A, Exp. Cell Res. 111:327.PubMedCrossRefGoogle Scholar
  247. Schwinger, E., and Rehder, H., 1981, Prenatal trisomy 20 mosaicism: Origin in fetal kidney cells?, Lancet 2:1111.PubMedCrossRefGoogle Scholar
  248. Seabright, M., Gregson, N. M., and Johnson, M., 1980, A familial polymorphic variant of chromosome 5, J. Med. Genet. 17:444.PubMedCrossRefGoogle Scholar
  249. Sergovich, F., Valentine, G. H., Chen, A. L., et al., 1969, Chromosome aberrations in 2159 consecutive newborn babies, N. Engl. J. Med. 280:851.PubMedCrossRefGoogle Scholar
  250. Serr, D. M., Sachs, L., and Danon, M., 1955, Diagnosis of sex before birth using cells from the amniotic fluid, Bull. Res. Council Isr. 58:137.Google Scholar
  251. Shaham, M., Voss, R., Becker, Y., et al., 1982, Prenatal diagnosis of ataxia telangiectasia, J. Pediatr. 100:134.PubMedCrossRefGoogle Scholar
  252. Shapiro, L. R., Petterson, R. O., Wilmot, P. L., et al., 1984, Pericentric inversion of the Y chromosome and prenatal diagnosis, Prenat. Diagn. 4:463.PubMedCrossRefGoogle Scholar
  253. Shipley, J., Rodeck, C. H., Garrett, C., et al., 1984, Mitomycin C induced chromosome damage in fetal blood cultures and prenatal diagnosis of Fanconi’s anemia, Prenat. Diagn. 4:217.PubMedCrossRefGoogle Scholar
  254. Simoni, G., Fraccaro, M., Arslanian, A., et al., 1982, Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study, Hum. Genet. 60:63.PubMedCrossRefGoogle Scholar
  255. Simoni, G., Brambati, B., Danesino, C., et al., 1983, Efficient direct chromosome analyses and enzyme determination from chorionic villi samples in the first trimester of prengancy, Hum. Genet. 63:349.PubMedCrossRefGoogle Scholar
  256. Simpson, N. E., Dallaire, L., Miller, J. R., et al., 1976, Prenatal Diagnosis of genetic disease in Canada: Report of a collaborative study, Can. Med. Assoc. J. 115:739.PubMedGoogle Scholar
  257. Singh, D. N., Hara, S., Foster, H. W., et al., 1980, Reproductive performance in women with sex chromosome mosaicism, Obstet. Gynecol. 55:608.PubMedGoogle Scholar
  258. Soudek, D., 1979, Prenatal diagnosis of a 13p+ karyotype, Hum. Genet. 51:339.PubMedCrossRefGoogle Scholar
  259. Speit, G., and Vogel, W., 1981, Demonstration of sister chromatid differentiation in human amniotic fluid cells after partial synchronization with BrdU or dT surplus, Hum. Genet. 58:298.PubMedCrossRefGoogle Scholar
  260. Sperling, K., and Saling, E., 1971, Pranatale Chromosomenanalyse mit Mosaikbefund 46,XX/92,XXXX, Humangenetik 11:139.PubMedCrossRefGoogle Scholar
  261. Spowart, G., 1979, Reassessment of presumed Y/22 and Y/15 translocations in man using a new technique, Cytogenet. Cell Genet. 23:90.PubMedCrossRefGoogle Scholar
  262. Squire, J. A., Nauth, L., Ridler, M. A. C., et al., 1982, Prenatal diagnosis and outcome of pregnancy in 2036 women investigated by amniocentesis, Hum. Genet. 61:215.PubMedCrossRefGoogle Scholar
  263. Steele, M. W., and Breg, W. R., 1966, Chromosome analysis of human amniotic fluid cells, Lancet 1:383.PubMedCrossRefGoogle Scholar
  264. Steinbach, P., Djalali, M., Hansmann, L, et al., 1983, The genetic significance of acessory bisatellited marker chromosomes, Hum. Genet. 65:155.PubMedCrossRefGoogle Scholar
  265. Steinbach, P., Djalali, M., and Marie-Odile, R., 1985, Prenatal diagnosis of a true mosaic trisomy 20 substantiated by demonstration of a gene dosage effect for adenosine deaminase (ADA), Prenat. Diagn. 5:163.PubMedCrossRefGoogle Scholar
  266. Stene, J., 1970, Detection of higher recurrence risk for age-dependent chromosome abnormalities with an application to trisomy 21 Down syndrome, Hum. Hered. 20:112.PubMedCrossRefGoogle Scholar
  267. Stene, J., Fischer, G., Stene, E., et al., 1977, Paternal age effect in Down syndrome, Ann. Hum. Genet. 40:299.PubMedCrossRefGoogle Scholar
  268. Stene, J., Stene, E., Stengel-Rutkowski, S., et al., 1981, Paternal age and Down syndrome. Data from prenatal diagnosis (DFG), Hum. Genet. 59:119.PubMedCrossRefGoogle Scholar
  269. Stene, J., Stene, E., and Mikkelsen, M., 1984, Risk for chromosome abnormality at amniocentesis following a child with a non-inherited chromosome aberration, Prenat. Diagn. (Special Issue) 4:81.Google Scholar
  270. Stengel-Rutkowski, S., 1980, Le diagnostic antenatal: Resultats et risques experience de l’allemagne de l’ouest, J. Genet. Hum. 28:73.PubMedGoogle Scholar
  271. Stoll, C., Rohmer, A., Korn, R., et al., 1976, Familial 13p+ chromosome with mental retardation and dysmorphic features in two children, Hum. Genet. 34:81.PubMedGoogle Scholar
  272. Sutherland, G. R., Brock, D. J. H., and Scrimgeour, J. B., 1975, Amniotic fluid macrophages and the antenatal diagnosis of anencephaly and spina bifida, J. Med. Genet. 12:135.PubMedCrossRefGoogle Scholar
  273. Swisshelm, K., Rodriquez, M. L., Luthy, D., et al., 1981, Antenatal diagnosis of mosaic trisomy 8 confirmed in fetal tissues, Clin. Genet. 20:276.PubMedCrossRefGoogle Scholar
  274. Takahara, H., Ohama, K., and Fujiwara, A., 1977, Cytogenetic study in early spontaneous abortions, Hiroshima J. Med. Sci. 26:291.PubMedGoogle Scholar
  275. Tharapel, A. V., Summit, R. L., Wilroy, R. S., et al., 1977, Apparently balanced de novo translocations in patients with abnormal phenotypes, report of 6 cases, Clin. Genet. 11:255.PubMedCrossRefGoogle Scholar
  276. Tierney, I., Axworthy, D., Smith, L., et al., 1984, Balanced rearrangements of the autosomes: Results of a longitudinal study of a newborn survey population, J. Med. Genet. 21:45.PubMedCrossRefGoogle Scholar
  277. Timson, J., Harris, R., Gadd, R. J., et al., 1971, Down syndrome due to maternal mosaicism and the value of antenatal diagnosis, Lancet 1:549.PubMedCrossRefGoogle Scholar
  278. Tomkins, D., Hunter, A., and Roberts, M., 1979, Cytogenetic findings in Robert’s-SC phocomelia syndrome(s), Am. J. Med. Genet. 4:17.PubMedCrossRefGoogle Scholar
  279. Tsuji, K., and Nakano, R., 1978, Chromosome studies of embryos from induced abortions in pregnant women age 35 and over, Obstet. Gynecol. 52:542.PubMedGoogle Scholar
  280. Uchida, I. A., 1979, Radiation induced nondisjunction, Environ. Health Perspect. 31:13.PubMedCrossRefGoogle Scholar
  281. Van Dyke, D. L., Weiss, L., Roberson, J. R., et al., 1983, The frequency and mutation rate of balanced autosomal rearrangements in man estimated from prenatal genetic studies for advanced maternal age, Am. J. Hum. Genet. 35:301.PubMedGoogle Scholar
  282. Veenema, H., Tasseron, E. W. K., and Geraedts, J. P. M., 1982, Mosaic tetraploidy in a male neonate, Clin. Genet. 22:295.PubMedCrossRefGoogle Scholar
  283. Vejerslev, L. O., and Friedrich, U., 1984, Experiences with unexpected structural chromosome aberrations in prenatal diagnosis in a Danish series, Prenat. Diagn. 4:181.PubMedCrossRefGoogle Scholar
  284. Vejerslev, L. O., Borlum, K. G., Jensen, N. K., et al., 1985, Prenatal diagnosis of trisomy 20 mosaicism indicating esophageal and rectal origin, Clin. Genet. 27:263.PubMedCrossRefGoogle Scholar
  285. Vekemans, M., Perry, T. B., and Hamilton, E., 1981, Chromosomal mosaicism in amniocentesis: An indication for fetoscopy?, N. Engl. J. Med. 304:52.PubMedGoogle Scholar
  286. Verjaal, M., Leschot, N. J., and Treffers, P. E., 1981, Risk of amniocentesis and laboratory findings in a series of 1500 prenatal diagnoses, Prenat. Diagn. 1:173.PubMedCrossRefGoogle Scholar
  287. Viguie, F., Romani, F., and Dadoune, J. P., 1982, Male infertility in a case of (Y;6) balanced reciprocal translocation; mitotic and meiotic study, Hum. Genet. 62:225.PubMedCrossRefGoogle Scholar
  288. Voss, R., Kohn, G., Shaham, M., et al., 1981, Prenatal diagnosis of Fanconi anemia, Clin. Genet. 20:185.PubMedCrossRefGoogle Scholar
  289. Wachtier, F., and Musil, R., 1980, On the structure and polymorphism of the human chromosome no, 15, Hum. Genet. 56:115.Google Scholar
  290. Walker, F. A., and Ising, R., 1969, Mosaic Down syndrome in a father and daughter, Lancet 1:374.PubMedCrossRefGoogle Scholar
  291. Walker, S., Lee, C. Y., and Gregson, N. W., 1970, Polyploidy in cells cultured from amniotic fluid, Lancet 2:1137.PubMedCrossRefGoogle Scholar
  292. Warburton, D., 1982, De novo structural rearrangements: Implications for prenatal diagnosis, in: Clinical Genetics: Problems in Diagnosis and Counseling (A. M. Willey, T. P. Carter, S. Kelly, I. E. Porter, eds.), p. 63, Academic Press, New York.Google Scholar
  293. Warburton, D., 1983, De novo structural rearrangements in amniotic fluid cultures—Prognosis for outcome, in: Proceedings of 16th Annual Birth Defects Conference (Seattle, Washington, June 19–22, 1983), Abstract 109.Google Scholar
  294. Warburton, D., 1984, Outcome of cases of de novo structural rearrangements diagnosed at amniocentesis, Prenat. Diagn. (Special Issue) 4:69.Google Scholar
  295. Warburton, D., and Kline, J., 1986, Loss during Recognized Pregnancy, in: Perinatal Genetics—Diagnosis and Management (I. H. Porter and A. Willey, eds.), Academic Press, New York (in press).Google Scholar
  296. Warburton, D., Kline, J., and Stein, Z., 1980, Monosomy X: A chromosomal anomaly associated with young maternal age, Lancet 1:167.PubMedCrossRefGoogle Scholar
  297. Watson, M. S., Breg, W. R., Hobbins, J. C., et al., 1984, Cytogenetic diagnosis using midtrimester fetal blood samples: Application to suspected mosaicism and other diagnostic problems, Am. J. Med. Genet. 19:805.PubMedCrossRefGoogle Scholar
  298. Watt, J. L., Couzin, D. A., Johnston, A. W., et al., 1981, Prenatal detection of Turner’s syndrome in conjunction with trisomy 20 mosaicism (45,X/46,X, + 20), J. Med. Genet. 18:225.PubMedCrossRefGoogle Scholar
  299. Webb, T., Edwards, J. H., Cameron, A. H., et al., 1980, Amniocentesis in the West Midlands: Report on 1000 births, J. Med. Genet. 17:81.PubMedCrossRefGoogle Scholar
  300. Weise, W., and Quent, P., 1980, Bedeutung des trisomie-20 mosaizismus in der pränatalen diagnositik, Zentralbl. Gynekol. 102:770.Google Scholar
  301. Werner, W., and Hermann, F. H., 1984, Analysis of a familial 15p+ polymorphism: Exclusion of Y/15 translocation, Clin. Genet. 26:204.PubMedCrossRefGoogle Scholar
  302. Witkin, H. A., Mednick, S. A., Schulsinger, F., et al., 1976, Criminality in XYY and XXY men, Science 193:547.PubMedCrossRefGoogle Scholar
  303. Wolfe, J., Erickson, R. P., Rigby, P. W., et al., 1984, Regional localization of 3 Y-derived sequences on the human X and Y chromosome, Ann. Hum. Genet. 48:253.PubMedCrossRefGoogle Scholar
  304. Worton, R. G., and Stern, R., 1984, A Canadian collaborative study of mosaicism in amniotic fluid cell cultures, Prenat. Diagn. (Special Issue) 4:131.Google Scholar
  305. Young, S. R., Wade, R. V., Watt, G. W., et al., 1983, The results of one thousand consecutive prenatal diagnoses, Am. J. Obstet. Gynecol. 147:181.PubMedGoogle Scholar
  306. Zenthen, E., and Nielsen, J., 1973, Pericentric Y inversion in the general population, Humangenetik 19:265.CrossRefGoogle Scholar

Copyright information

© Aubrey Milunsky 1986

Authors and Affiliations

  • Lillian Y. F. Hsu
    • 1
    • 2
  1. 1.Prenatal Diagnosis Laboratory of New York CityMedical and Health Research Association of New York City, Inc.New YorkUSA
  2. 2.Department of PediatricsNew York University School of MedicineNew YorkUSA

Personalised recommendations