Prenatal Detection of Genetic Disorders

  • Henry L. Nadler
Part of the Advances in Human Genetics book series (AHUG, volume 3)


The prenatal detection of genetic disorders has become an area of increasing importance during the past few years. Medical and public awareness of the concept of familial disorders and genetic counseling has been the major stimulus for interest in this field. The acceptance of transabdominal amniocentesis as a safe technique, advances in tissue culture technique markedly reducing the complexity of growing cells, micromethods for biochemical assays, and simplified methods for chromosomal analysis have all contributed to the rapid advances in this field.


Amniotic Fluid Antenatal Diagnosis Amniotic Fluid Cell Translocation Carrier Methylmalonic Aciduria 
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. 1.
    Bonsnes, R. W., Composition of amniotic fluid, Clin. Obstet. Gynec. 9: 440 (1966).PubMedGoogle Scholar
  2. 2.
    Ostergard, D. R., The physiology and clinical importance of amniotic fluid, A review, Obstet. Gynec. Survey 25: 297 (1970).PubMedGoogle Scholar
  3. 3.
    Tankard, A. R., D. J. T. Bagnall, and F. Morris, The composition of amniotic fluid, Analyst 59: 806 (1934).Google Scholar
  4. 4.
    Barnes, A. C. (ed.), “Intrauterine Development,” Lee and Febiger, Philadelphia, (1968).Google Scholar
  5. 5.
    Behrman, R. E., J. T. Parer, and C. W. de Lannoy, Jr., Placental growth and the formation of amniotic fluid, Nature 214: 678 (1967).PubMedGoogle Scholar
  6. 6.
    Abbas, T. M. and J. E. Tovey, Proteins of the liquor amnii, Brit. Med. J. 1: 476 (1960).PubMedGoogle Scholar
  7. 7.
    Shrewsbury, J. F. D., Observations of the chemistry of liquor amnii, Lancet 1: 415 (1933).Google Scholar
  8. 8.
    Orlandi, C., R. V. Torsello, and F. Bottiglioni, Analisi qualitativa e dosaggio semi-quantitativo degli aminoacidi contenuti nel liquido amniotico, Attuai. Ostet. Ginec. 4: 871 (1958).Google Scholar
  9. 9.
    Wirtschafter, Z. T., Free amino acids in human amniotic fluid, fetal and maternal serum, Amer. J. Obstet. Gynec. 76: 1219 (1958).PubMedGoogle Scholar
  10. 10.
    Sassi, D., Sulla presenza degli aminoacidi nel liquido amniotico, Monitore Ostet.Ginec. Endocrin. Metab. 33: 683 (1962).Google Scholar
  11. 11.
    Spackman, D. H., Technicon Monograph No. 3, Geneva, p. 40, 1968.Google Scholar
  12. 12.
    Levy, H. L. and P. P. Montag, Free amino acids in human amniotic fluid, A quantitative study by ion-exchange chromatography, Pediat. Res. 3: 113 (1969).PubMedGoogle Scholar
  13. 13.
    Emery, A. E. H., D. Burt, J. B. Scrimgeour, and M. M. Nelson, Antenatal diagnosis and amino acid composition of amniotic fluid, Lancet 1: 1307 (1970).Google Scholar
  14. 14.
    Morrow, G., III, R. H. Schwarz, J. A. Hallock, and L. A. Barness, Prenatal detection of methylmalonic acidemia, J. Ped. 77: 120 (1970).Google Scholar
  15. 15.
    Seppälä, M., E. Ruoslahti, and T. H. Tallberg, Genetical evidence for maternal origin of amniotic fluid proteins, Ann. Med. Exper. Biol. Fenniae 44: 6 (1966).Google Scholar
  16. 16.
    Dancis, J., J. Lind, and P. Vara, in The Placental and Foetal Membranes (C. A. Villee, ed.), The Williams & Wilkins Co., Baltimore (1960).Google Scholar
  17. 17.
    Brzezinski, A., E. Sadovsky, and E. Shafrir, Electrophoretic distribution of proteins in amniotic fluid and in maternal and fetal serum, Am. J. Obst. Gynec. 82: 800 (1961).Google Scholar
  18. 18.
    Brzezinski, A., E. Sadovsky, and E. Shafrir, Protein composition of early amniotic fluid and fetal serum with a case of bis-albuminemia, Amer. J. Obst. Gynec. 89: 488 (1964).Google Scholar
  19. 19.
    Marks, J. F., J. Baum, J. L. Kay, W. Taylor, and L. Curry, Amniotic fluid concentrations of uric acid, Ped. 42: 359 (1968).Google Scholar
  20. 20.
    Baird, C. W., and I. E. Bush, Cortisone and cortisol contents of amniotic fluid from diabetic and non-diabetic women, Acta Endocrin. 34: 97 (1960).Google Scholar
  21. 21.
    Jeffcoate, T. N. A., J. R. H. Fliegner, S. H. Russell, J. C. Davis, and A. P. Wade, Diagnosis of the adrenogenital syndrome before birth, Lancet 2: 553 (1965).PubMedGoogle Scholar
  22. 22.
    Merkatz, I. R., M. I. New, R. E. Peterson, and M. P. Seaman, Prenatal diagnosis of adrenogenital syndrome by amniocentesis, J. Ped. 75: 977 (1969).Google Scholar
  23. 23.
    Klopper, A. J., and M. C. MacNaughton, The identification of pregnanediol in liquor amnii, bile, and faeces, J. Endocrin. 18: 319 (1959).Google Scholar
  24. 24.
    Cope, C. L., B. Hurlock, and C. Sewell, The distribution of adrenal cortical hormone in some body fluids, Clin. Sci. 14: 25 (1955).PubMedGoogle Scholar
  25. 25.
    Lambert, M., and G. W. Pennington, The estimation of polar steroids in liquor amnii, J. Endocrin. 32: 287 (1965).Google Scholar
  26. 26.
    Abt, K. R., and M. Keller, 17 Keto-steroids and phenolic steroids in amniotic fluid, Geburts u. Frauenheilk 14: 126 (1954).Google Scholar
  27. 27.
    Aleem, F. A., J. H. M. Pinkerton, and D. W. Neill, Clinical significance of the amniotic fluid oestriol level, J. Obstet. Gynaec. Brit. Cwlth. 76: 200 (1969).Google Scholar
  28. 28.
    Diczfalusy, E., and A. M. Magnusson, Tissue concentration of oestrone, oestradiol, and oestriol in the human fetus, Acta Endo. 28: 169 (1958).Google Scholar
  29. 29.
    Schindler, A. E., and W. L. Hermann, Estriol in pregnancy urine and amniotic fluid, Am. J. Obstet. Gynec. 95: 301 (1966).PubMedGoogle Scholar
  30. 30.
    Schindler, A. E., V. Ratanasopa, T. Y. Lee, and W. L. Herrmann, Estriol and Rh isoimmunization: A new approach to the management of severely affected pregnancies, Obstet. Gynec. 29: 625 (1967).PubMedGoogle Scholar
  31. 31.
    Troen, P. B. Nilsson, N. Wiqvist, and E. Diczfalusy, The pattern of estriol conjugates in normal human cord blood, amniotic fluid, and urine of newborns, Acta Endo. 38: 361 (1961).Google Scholar
  32. 32.
    Bruner, J. A., Distribution of chorionic gonadotropin in mother and fetus at various stages of pregnancy, J. Clin. Endo. 11: 360 (1951).Google Scholar
  33. 33.
    Tallberg, T., E. Rouslahti, and C. Ehnholm, Immunological studies in human placental proteins and the purification of the human placental lactogen, Ann. Med. Explt. Biol. Fenn. 43: 67 (1965).Google Scholar
  34. 34.
    Fuchs, F., Discussion of Paper by Jacobson and Barter, Amer. J. Obst. Gynec. 99: 806 (1967).Google Scholar
  35. 35.
    Nichols, J., Antenatal diagnosis and treatment of the adrenogenital syndrome, Lancet 1: 83 (1970).PubMedGoogle Scholar
  36. 36.
    Nadler, H. L., and A. M. Messina, In-utero detection of Type-II glycogenosis (Pompe’s disease), Lancet 11: 1277 (1969).Google Scholar
  37. 37.
    Jung, G., and R. Diem, Studies on the enzyme content of amniotic fluid, Arch. Gynaek. 192: 155 (1959).Google Scholar
  38. 38.
    McKay, D. G., M. V. Richardson, and A. T. Hertig, Studies of the function of early human trophoblast. III. A study of the protein structure of mole fluid, Chorionic and amniotic fluids by paper electrophoresis, Am. J. Obstet. Gynec. 75: 699 (1958).PubMedGoogle Scholar
  39. 39.
    Swelich, F., and H. Ehrlich-Gomolka, Über die Säure und Alkalisch Phosphate im Placenta und Fruchtwasser, Enzymologica 15: 96 (1951).Google Scholar
  40. 40.
    Zelnicek, E. and J. Povarek, Alpha-ketogluteric and pyruvic acids and enzymes in effusions in man, Clin. Chim. Acta 6: 464 (1961).PubMedGoogle Scholar
  41. 41.
    Antonini, E., P. Fioretti, and C. DeMarco, Glycolytic enzymes in human amniotic fluid, Experientia 13: 357 (1957).PubMedGoogle Scholar
  42. 42.
    Geyer, V. H., Die Herkunft der Fruchtwasser-Enzyme, Z. klin. Chem. u. klin. Biochem. 8: 145 (1970).Google Scholar
  43. 43.
    Geyer, V. H., and I. Schneider, Enzyme im Fruchtwasser, Z. klin. Chem. u. klin. Biochem. 8: 141 (1970).Google Scholar
  44. 44.
    Toschi, P., ß-Glucuronidase activity of serum, amniotic fluid, and cerebrospinal fluid in pre-eclampsia and eclampsia, Attualità Ostet. Ginecol. 10: 22 (1964).Google Scholar
  45. 45.
    Bromboszcz, A., and M. Stepniewski, Amniotic fluid and blood serum cholinesterase during labor, Przeglad. Lerkar. 21: 255 (1965).Google Scholar
  46. 46.
    Southren, H. L., Y. Kobayashi, T. Brenner, and A. B. Weingold, Diamine oxidase activity in human maternal and fetal plasma and tissues at parturition, J. Appl. Physiol. 20: 1038 (1965).Google Scholar
  47. 47.
    Weingold, A. B., and H. L. Southren, Diamine oxidase as an index of the feto-placental unit, Obstet. Gynec. 32: 593 (1968).PubMedGoogle Scholar
  48. 48.
    Maeda, K., Enzymes of the amniotic fluid, Biochem. Z. 144: 1 (1924).Google Scholar
  49. 49.
    Kubli, F., Enzymatic research on the amniotic fluid. Lactic dehydrogenase and glutamic-oxalacetic transaminase, Zbl. Gynaek. 83: 1151 (1961).PubMedGoogle Scholar
  50. 50.
    Lin, Y. S., The components (proteins, phosphatase and transaminase) of human amniotic fluid, Korean Central J. Med. 61: 17 (1964).Google Scholar
  51. 51.
    Uuspaa, V. J., High histaminase activity of human blood in pregnancy and the so-called placental haemochorialis, Ann. Med. Exptl. Biol. Fenn. 29: 81 (1951).Google Scholar
  52. 52.
    Wiegershausen, B., I. Paegelow, E. Neumayer, and H. Walter, The kininogen content in plasma and amniotic fluid, Acta Biol. Med. Ger. 19: 61 (1967).Google Scholar
  53. 53.
    Ckresser, M., and H. J. Worashk, Determination of leucine aminopeptidase in extracts from the placenta and the placental membranes as well as the amniotic fluid during the early months of pregnancy, Z. Geburtsh. Gynaekol. 164: 76 (1965).Google Scholar
  54. 54.
    Zsolnai, B. J. Somogyi, Z. Szarvas, and E. Puskas, The role of proteolytic enzymes in pregnancy, I. The behavior of leucine aminopeptidase in the serum and placenta, Acta Chir. Acad. Sci. Hung. 5: 207 (1964).Google Scholar
  55. 55.
    Zecchietti, G., Demonstration of lysozyme in the amniotic fluid, with reference to the bacteriocidal power of amniotic fluid, Quaderni Clin. Ostet. e Ginecol. 3: 233 (1948).Google Scholar
  56. 56.
    Koren, Z., The significance of mono-amine oxidase in amniotic fluid in human foetal development, J. Obstet. Gynec. Brit. Cwlth. 74: 775 (1967).Google Scholar
  57. 57.
    Brzezinski, A., Z. Koren, Y. Pfeifer, and F. G. Sulman, The metabolism of serotonin in amniotic fluid, J. Obstet. Gynecol. Brit. Cwlth. 69: 661 (1962).Google Scholar
  58. 58.
    Santoni, G., p-Phenylenediamine oxidase activity in maternal blood in labor, in umbilical cord blood, and in amniotic fluid. Relation to ceruloplasmin level, Ann. Ostet. e Ginecol. 80: 70 (1958).Google Scholar
  59. 59.
    Nadler, H. L., R. H. Bigley, and G. Hug, Prenatal detection of Pompe’s disease, Lancet 11: 369 (1970).Google Scholar
  60. 60.
    Matalon, R., A. Dorfman, H. L. Nadler, and C. B. Jacobson, A chemical method for the prenatal diagnosis of mucopolysaccharides, Lancet 1: 83 (1970).PubMedGoogle Scholar
  61. 61.
    Van Leeuwen, L., H. Jacoby, and D. Charles, Exfoliative cytology of amniotic fluid, Acta Cytol. 9: 442 (1965).PubMedGoogle Scholar
  62. 62.
    Huisjes, H. J., Origin of the cells in the liquor amnii, Am. J. Obstet. Gynec. 106: 1222 (1970).PubMedGoogle Scholar
  63. 63.
    Fuchs, F., and P. Riffs, Antenatal sex determination, Nature 177: 330 (1956).PubMedGoogle Scholar
  64. 64.
    Shettles, L. B. Nuclear morphology of cells in human amniotic fluid in relation to sex of infant, Am. J. Obstet. Gynec. 71: 834 (1956).Google Scholar
  65. 65.
    Makowski, E. L., K. A. Prem, and I. H. Kaiser, Detection of sex of fetuses by the incidence of sex chromatin body in nuclei of cells in amniotic fluid, Science 123: 542 (1956).PubMedGoogle Scholar
  66. 66.
    Serr, D. M. L. Sachs, and M. Danon, Diagnosis of sex before birth using cells from amniotic fluid, Bull. Res. Council Israel 5B137 (1955).Google Scholar
  67. 67.
    Dewhurst, C. J., Diagnosis of sex before birth, Lancet I: 471 (1956).Google Scholar
  68. 68.
    James, F., Sexing foetuses by examination of the amniotic fluid, Lancet 1: 202 (1956).Google Scholar
  69. 69.
    Keymer, E., E. Silva-Inzunza, and W. E. Coutts, Contribution to the antenatal determination of sex, Am. J. Obstet. Gynecol. 74: 1098 (1957).PubMedGoogle Scholar
  70. 70.
    Pasquinucci, C., Studio della “Chromatina sessuale” nelle cellule del liquido amniotico per la diagnosi prenatale di sesso, Ann. Obst. Gynec. 79: 152 (1957).Google Scholar
  71. 71.
    Amarose, A. P., A. J. Wallingford, and E. J. Plots, Prediction of fetal sex from cytologic examination of amniotic fluid, New Eng. J. Med. 275: 715 (1966).PubMedGoogle Scholar
  72. 72.
    Riffs, P., and F. Fuchs, Sex chromatin in cells of amniotic fluid and antenatal sex diagnosis, in The Sex Chromatin (K. G. Moore, ed.), W. B. Saunders Co., Philadelphia (1966).Google Scholar
  73. 73.
    Sen, D. M., and E. Margolis, Diagnosis of fetal sex in a sex-linked hereditary disorder, Am. J. Obstet. Gynec. 88: 230 (1964).Google Scholar
  74. 74.
    Nadler, H. L., and A. B. Gerbie, Role of amniocentesis in the intrauterine detection of genetic disorders, New Eng. J. Med. 282: 596 (1970).PubMedGoogle Scholar
  75. 75.
    Fuchs, F., E. Freiesleben, E. E. Knudsen, and P. Riffs, Determination of foetal blood-group, Lancet I: 996 (1956).Google Scholar
  76. 76.
    Sachs, L., M. Feldman, and M. Danon, Prenatal identification of blood group antigens, Lancet II: 356 (1956).Google Scholar
  77. 77.
    Broussy, J., J. Ducos, and R. Baux, Mise en evidence des antigens A et B dans le liquide amniotique humain et en du systeme rhesus dans des cellules de desquamation, Compt. Rend. Soc. Biol. 152: 172 (1958).Google Scholar
  78. 78.
    Frimpter, G. W., A. J. Greenberg, M. Hilgartner, and F. Fuchs, Cystathioninuria: management, Am. J. Dis. Child. 113: 115 (1967).PubMedGoogle Scholar
  79. 79.
    Hug, G., W. K. Schubert, and S. Soukup, Prenatal diagnosis of type II glycogenosis, Lancet I: 1002 (1970).Google Scholar
  80. 80.
    Cox, R. P., G. Douglas, J. Hutzler, J. Lynfield, and J. Dancis, In utero detection of Pompe’s disease, Lancet I: 893 (1970).Google Scholar
  81. 81.
    Kaback, M. M., Personal communication.Google Scholar
  82. 82.
    Berman, P. H., M. E. Balis, and J. Dancis, A method for the prenatal diagnosis of congenital hyperuricemia, J. Ped. 75: 488 (1969).Google Scholar
  83. 83.
    Nadler, H. L., and A. B. Gerbie, Enzymes in noncultured amniotic fluid cells, Am. J. Obstet. Gynec. 103: 710 (1969).PubMedGoogle Scholar
  84. 84.
    Sutcliffe, R. G., and D. J. H. Brock, Enzymes in uncultured amniotic fluid cells. Clin. Chim. Acta 31: 363, 1971.PubMedGoogle Scholar
  85. 85.
    O’Brien, J. S., Lipid storage disease, Conference on Antenatal Detection of Genetic Disorders, Chicago, Ill., June 1970.Google Scholar
  86. 86.
    Rattazzi, M. C., and R. G. Davidson, Prenatal detection of Tay-Sachs disease, Presented at the Meeting on Antenatal Diagnosis, Chicago, Ill., June 11–12, 1970.Google Scholar
  87. 87.
    Dancis, J., The antepartum diagnosis of genetic diseases, J. Pediat. 72: 301 (1968).PubMedGoogle Scholar
  88. 88.
    Schneck, L., C. Valenti, D. Amsterdam, J. Friedland, M. Adachi, and B. W. Volk, Prenatal diagnosis of Tay-Sachs disease, Lancet 1: 582 (1970).PubMedGoogle Scholar
  89. 89.
    Jacobson, C. B., and R. H. Barter, Intra-uterine diagnosis and management of genetic defects, Am. J. Obst. Gynec. 99: 796 (1967).Google Scholar
  90. 90.
    Steele, M. W., and W. R. Breg, Chromosome analysis of human amniotic fluid cells, Lancet 1: 383 (1966).PubMedGoogle Scholar
  91. 91.
    Thiede, H. A., W. T. Creasman, and S. Metcalfe, Antenatal analysis of the human chromosomes, Am. J. Obst. Gynec. 94: 589 (1966).Google Scholar
  92. 92.
    Emery, A. E., ed., Modern Trends in Human Genetics, Butterworths, London (1970), p. 267.Google Scholar
  93. 93.
    Uhlendorf, B. W., C. B. Jacobson, H. R. Sloan, S. H. Mudd, J. H. Herndon, R. O. Brady, J. E. Seegmiller, and W. Fujimoto, Cell cultures derived from human amniotic fluid: Their possible application in the intra-uterine diagnosis of heritable metabolic disease, Nineteeth Annual Meeting of the Tissue Culture Association, Schedule and Abstracts, San Juan, Puerto Rico, 1968, In Vitro,p. 158.Google Scholar
  94. 94.
    Lisgar, F., M. Gertner, S. Cherry, L. Y. Hsu, and K. Hirschhorn, Prenatal chromosome analysis, Nature 225: 280 (1970).PubMedGoogle Scholar
  95. 95.
    Abbo, G., and H. Zellweger, Prenatal determination of fetal sex and chromosomal complement, Lancet 1: 216 (1970).PubMedGoogle Scholar
  96. 96.
    Gregson, N. M., A technique for culturing cells from amniotic fluid, Lancet 1: 84 (1970).PubMedGoogle Scholar
  97. 97.
    Santesson, B., H.-O. Akesson, J. A. Böök, and A. Brosset, Karyotyping human amniotic fluid cells, Lancet II: 1067 (1969).PubMedGoogle Scholar
  98. 98.
    Valenti, C., and T. Kehaty, Culture of cells obtained by amniocentesis, J. Lab. Clin. Med. 73: 355 (1969).PubMedGoogle Scholar
  99. 99.
    Nelson, M. M., and A. E. H. Emery, Amniotic fluid cells; Prenatal sex prediction and culture, Brit. Med. J. 1: 523 (1970).PubMedGoogle Scholar
  100. 100.
    Nadler, H. L., A. Gerbie, C. B. Jacobson, C. Valenti, and M. N. Macintyre, (In preparation).Google Scholar
  101. 101.
    Gerbie, A. B., and H. L. Nadler, Amniocentesis in genetic counseling, Amer. J. Obst. Gynec. 109: 765, 1971.Google Scholar
  102. 102.
    Valenti, C., E. J. Schutta, and T. Kehaty, Prenatal diagnosis of Down’s syndrome, Lancet H: 220 (1968).Google Scholar
  103. 103.
    Gertner, M., L. Y. Hsu, and K. Hirschhorn, The use of amniocentesis in genetic counseling, Proc. Soc. Pediat. Res., Atlantic City, May 2, 1970, p. 125.Google Scholar
  104. 104.
    Uhlendorf, B. W., Personal communication.Google Scholar
  105. 105.
    Nadler, H. L., Patterns of enzyme development using cultivated human fetal cells from amniotic fluid, Biochem. Genet. 2: 119 (1968).PubMedGoogle Scholar
  106. 106.
    Nadler, H. L., Unpublished data.Google Scholar
  107. 107.
    Shih, V. E., J. W. Littlefield, and H. W. Moser, Personal communication.Google Scholar
  108. 108.
    Sloan, H. R., B. W. Uhlendorf, C. B. Jacobson, and D. S. Fredrickson, ß-Galactosidase in tissue culture derived from human skin and bone marrow: Enzyme defect in Gm gangliosidosis, Pediat. Res. 3: 532 (1969).PubMedGoogle Scholar
  109. 109.
    Beutler, E., W. Kuhl, F. Trinidad, R. Teplitz, and H. Nadler, Detection of Gaucher’s disease and its carrier state from fibroblast cultures, Lancet II: 369 (1970).PubMedGoogle Scholar
  110. 110. Uhlendorf, B. W., and S. H. Mudd, Cystathionine synthase in tissue culture derived from human skin: Enzyme defect in homocystinuria Science 160: 1007 (1968).Google Scholar
  111. 111.
    Okada, S., and J. S. O’Brien, Tay-Sachs disease: Generalized absence of a betaD-N-acetylhexosaminidase component, Science 165: 698 (1969).PubMedGoogle Scholar
  112. 112.
    Fujimoto, W. Y., J. E. Seegmiller, B. W. Uhlendorf, and C. B. Jacobson, Biochemical diagnosis of an X-linked disease in utero, Lancet II: 511 (1968).PubMedGoogle Scholar
  113. 113.
    DeMars, R., G. Sarto, J. S. Felix, and P. Benke, Lesch-Nyhan mutation: Prenatal detection with amniotic fluid cells, Science 164: 1303 (1969).PubMedGoogle Scholar
  114. 114.
    Kaback, M. M., C. O. Leonard, and T. H. Parmley, Intra-uterine diagnosis: Comparative enzymology of fibroblasts cultivated from maternal skin, fetal skin, and amniotic fluid cells, Proc. Soc. Pediat. Res. Atlantic City, May 2, 1970, p. 27.Google Scholar
  115. 115.
    Nadler, H. L., Antenatal detection of hereditary disorders, Pediat. 42: 912 (1968).Google Scholar
  116. 116.
    Fratantoni, J. C., E. F. Neufeld, B. W. Uhlendorf, and C. B. Jacobson, Intrauterine diagnosis of the Hurler and Hunter syndromes, New Eng. J. Med. 280: 686 (1969).PubMedGoogle Scholar
  117. 117.
    Nadler, H. L., J. M. Wodnicki, M. A. Swae, and M. E. O’Flynn, Cultivated amniotic fluid cells and fibroblasts derived from families with cystic fibrosis, Lancet II: 84 (1969).PubMedGoogle Scholar
  118. 118.
    Nadler, H. L., and T. J. Egan, Lysosomal acid phosphatase deficiency: A new familial metabolic disorder, New Eng. J. Med. 282: 302 (1970).PubMedGoogle Scholar
  119. 119.
    Schneider, E. L., W. G. Ellis, R. O. Brady, J. R. McCulloch, and C. J. Epstein, Prenatal Gaucher’s disease: In utero diagnosis and fetal pathology. Submitted for publication.Google Scholar
  120. 120.
    Justice, P. C. Ryan, and D. Y. Y. Hsia, Amylo-l,6-glucosidase in human fibroblasts: Studies in type III glycogen storage disease, Biochem. Biophys. Res. Comm. 39: 301 (1970).Google Scholar
  121. 121.
    Schulman, J. D., W. Y. Fujimoto, M. A. Bradley, and J. E. Seegmiller, Identification of the heterozygous genotype for cystinosis in utero, J. Ped. 77: 468 (1970).Google Scholar
  122. 122.
    Salafsky, I. and H. L. Nadler, a-1,4-Glucosidase activity in Pompe’s disease, J. Ped. 79: 794, 1971.Google Scholar
  123. 123.
    Danes, B. S., J. T. Queenan, E. C. Gadow, and L. L. Cederquist, Antenatal diagnosis of mucopolysaccharidoses Lancet I: 946 (1970).Google Scholar
  124. 124.
    124. Votta, R. A., C. B. de Gagneten, O. Parada, and M. Giulietti, Cytologic study of amniotic fluid in pregnancy Am. J. Obstet. Gynec. 102: 571 (1968).Google Scholar
  125. 125.
    Hoyes, A. D., Ultrastructure of the cells of the amniotic flúid J. Obstet. Gynaec. Brit. Cwlth. 75: 164 (1968).Google Scholar
  126. 126.
    Wachtel, E., H. Gordon, and E. Olsen, Cytology of amniotic fluid J. Obstet. Gynaec. Brit. Cwlth. 76: 596 (1969).Google Scholar
  127. 127.
    Pearson, P. L., M. Borrow, and C. G. Vosa, Technique for identifying Y chromosomes in human interphase nuclei, Nature 226: 78 (1970).PubMedGoogle Scholar
  128. 128.
    Caspersson, T., L. Zech, and C. Johansson, Differential binding of alkylating fluoro-chromes in human chromosomes, Exp. Cell Res. 60: 315 (1970).PubMedGoogle Scholar
  129. 129.
    Lee, C. L. Y., N. M. Gregson, and S. Walker, Eliminating red blood cell from amniotic fluid samples, Lancet, II: 316 (1970).PubMedGoogle Scholar
  130. 130.
    Gray, C., R. G. Davidson, and M. M. Cohen, Personal communication (manuscript in preparation).Google Scholar
  131. 131.
    Nadler, H. L., Prenatal detection of genetic defects J. Ped. 74: 132 (1969).Google Scholar
  132. 132.
    Nadler, H. L., A. B. Gerbie, C. B. Jacobson, M. N. Macintyre, and C. Valenti, (manuscript in preparation).Google Scholar
  133. 133.
    Macintyre, M. N., Personal communication.Google Scholar
  134. 134.
    Nadler, H. L., R. M. Dowben, and D. Y. Y. Hsia, Ultracentrifugal separation of fractions obtained from cells ruptured by nitrogen cavitation. The Society for Pediatric Research, Program and Abstracts, Atlantic City, N.J., 1968, p. 101.Google Scholar
  135. 135.
    Steele, M. W., Absence of dosage compensation for glucose-6-phosphate dehydrogenase (G6PD) in human embryonic and newborn fibroblast cultures, The Society for Pediatric Research, Program and Abstracts, Atlantic City, N.J., 1970, p. 121.Google Scholar
  136. 136.
    Van Bogaert, E. C., E. De Peretti, and C. A. Villee, Electrophoretic studies of human placental dehydrogenases Am. J. Obstet. Gynec. 98: 919 (1967).Google Scholar
  137. 137.
    Siniscalco, M., H. P. Klinger, H. Eagle, H. Koprowski, W. Y. Fujimoto, and J. E. Seegmiller, Evidence for intergenic complementation in hybrid cells derived from two human diploid strains each carrying an X-linked mutation, Proc. Nat. Acad. Sci. 62: 793 (1969).PubMedGoogle Scholar
  138. 138.
    Chacko, C. M., and H. L. Nadler, Galactose metabolism in cultivated human fibroblasts, (manuscript in press).Google Scholar
  139. 139.
    Taysi, K., M. L. Kistenmacher, H. H. Punnett, and W. J. Mellman, Limitations of metachromasia as a diagnostic aid in paediatrics, New Eng. J. Med. 281: 1108 (1969).PubMedGoogle Scholar
  140. 140.
    Matalon, R., and A. Dorfman, Acid mucopolysaccharides in cultured human fibroblasts Lancet II: 838 (1969).Google Scholar
  141. 141.
    Menees, T. O., J. D. Miller, and L. E. Holley, Amniography preliminary report, Am. J. Roentgen. 24: 363 (1930).Google Scholar
  142. 142.
    Schneider, E. L., W. G. Ellis, R. O. Brady, J. R. McCulloch, and C. J. Epstein, Prenatal Niemann-Pick disease: Biochemical and histological examination of a 19-gestational week fetus. Submitted for publication.Google Scholar
  143. 143.
    Freda, V. J., Recent obstetrical advances in the Rh Problem: Antepartum management, amniocentesis, and experience with hysterotomy and surgery in utero, Bull. N.Y. Acad. Med. 42: 475 (1966).Google Scholar
  144. 144.
    Queenan, J. T., Amniocentesis and transamniotic fetal transfusion for Rh disease Clin. Obstet. Gynec. 9: 491 (1966).Google Scholar
  145. 145.
    Burnett, R. G., and W. R. Anderson, The hazards of amniocentesis J. Iowa Med. Soc. 58: 130 (1958).Google Scholar
  146. 146.
    Liley, A. W., The technique and complications of amniocentesis, New Zealand Med. J. 59: 581 (1960).PubMedGoogle Scholar
  147. 147.
    Creasman, W. T., R. A. Lawrence, and M. A. Thiede, Fetal complications of amniocentesis, J.A.M.A. 204: 949 (1968).PubMedGoogle Scholar
  148. 148.
    Liley, A. W., Personal communication.Google Scholar
  149. 149.
    Berner, H. W., Jr., Amniography, an accurate way to localize the placenta: A comparison with soft-tissue placentography, Obstet. Gynec. 29: 200 (1967).PubMedGoogle Scholar
  150. 150.
    Wiltchik, S. G., R. H. Schwartz, and J. P. Emich, Jr, Amniography for placental localization, Obstet. Gynec. 28: 641 (1966).PubMedGoogle Scholar
  151. 151.
    Fuchs, F., Genetic information from amniotic fluid constituents, Clin. Obstet. Gynec. 9: 565 (1966).PubMedGoogle Scholar
  152. 152.
    Wagner, G., and F. Fuchs, The volume of amniotic fluid in the first half of human pregnancy, J. Obstet. Gynec. Brit. Cwlth. 69: 131 (1962).Google Scholar
  153. 153.
    Plentl, A. A., Formation and circulation of amniotic fluid, Clin. Obstet. Gynec. 9: 427 (1966).PubMedGoogle Scholar
  154. 154.
    Jacoby, H. E., Amniotic fluid volumes, Develop. Med. Child. Neurol. 8: 587 (1966).PubMedGoogle Scholar
  155. 155.
    Queenan, J. T., and D. W. Adams, Amniocentesis: A possible immunizing hazard, Obstet. Gynec. 24: 530 (1964).PubMedGoogle Scholar
  156. 156.
    Walker, A. H. C., and R. F. Jennison, Antenatal prediction of hemolytic disease of newborn: Comparison of liquor amnii and serological studies, Brit. M. J. 2: 1152 (1962).PubMedGoogle Scholar
  157. 157.
    Fairweather, D. V. I., S. Murray, D. Parkin, and W. Walker, Possible immunological implications of amniocentesis, Lancet, II: 1190 (1963).Google Scholar
  158. 158.
    Cassady, G., J. Cailleteau, D. Lockard, and R. Milstead, The hazard of fetal-maternal transfusion after transabdominal amniocentesis, Am. J. Obstet. Gynec. 99: 284 (1967).PubMedGoogle Scholar
  159. 159.
    Jacobson, C. B. Personal communication.Google Scholar
  160. 160.
    Russell, J. G. B., Radiology in the diagnosis of fetal abnormalities, J. Obstet. Gynaec. Brit. Cwlth. 76: 345 (1969).Google Scholar
  161. 161.
    Queenan, J. T., and E. Gadow, Amniography for detection of congenital malformations, Obstet. Gynec. 35: 648 (1970).PubMedGoogle Scholar
  162. 162.
    Agüero, O., and I. Zighelboim, Fetography and molegraphy, Surgery Gynec. Obstet. 130: 649 (1970).Google Scholar
  163. 163.
    Erbslöh, J., Das Intra-uterine Fetogramm, Arch. f. Gynäk. 173: 160 (1942).Google Scholar
  164. 164.
    Mohr, J., Foetal genetic diagnosis: Development of techniques for early sampling of foetal cells, Acta Path. Microbiol. Scand. 73: 73 (1968).PubMedGoogle Scholar
  165. 165.
    Emery, A. E., Personal communication.Google Scholar
  166. 166.
    Garrett, W. J., G. Grunwald, and D. E. Robinson, Prenatal diagnosis of fetal polycystic kidney by ultrasound, Aust. N. Z. J. Obstet. Gynaec. 10: 7 (1970).Google Scholar
  167. 167.
    Teteris, N. J., J. W. Chisholm, and J. C. Ullery, Antenatal diagnosis of congenital heart block, Obstet. Gynec. 32: 851 (1968).PubMedGoogle Scholar
  168. 168.
    Levkoff, A. H., Perinatal outcome of paroxysmal tachycardia of the newborn with onset in utero, Am. J. Obstet. Gynec. 104: 73 (1969).PubMedGoogle Scholar
  169. 169.
    Walknowska, J., F. A. Conte, and M. M. Grumbach, Practical and theoretical implications of fetal-maternal lymphocyte transfer, Lancet I: 1119 (1969).PubMedGoogle Scholar
  170. 170.
    Towner, J. W., B. Weiss, A. J. Ebbin, F. Kaplan, and M. G. Wilson, Fetal diagnosis in a D/G translocation carrier, Clin. Res. 18: 208 (1970).Google Scholar
  171. 171.
    Cathro, D. M. J. Bertrand, and M. G. Coyle, Antenatal diagnosis of adrenocortical hyperplasia, Lancet I: 732 (1969).Google Scholar
  172. 172.
    Voflte, P. A., Jr., S. K. Wadman, and W. J. Van Putten, Congenital neuroblastoma: Symptoms in the mother during pregnancy, Clin. Ped. 9: 206 (1970).Google Scholar
  173. 173.
    Littlefield, J. W., Prenatal diagnosis and therapeutic abortion, New Eng. J. Med. 280: 722 (1969).PubMedGoogle Scholar
  174. 174.
    Fabia, J., Illegitimacy and Down’s syndrome, Nature 221: 1157 (1969).PubMedGoogle Scholar
  175. 175.
    Magenis, R. E., F. Hecht, S. Milham, Jr., Trisomy 13 (D,) syndrome: Studies on parental age, sex ratio and survival, J. Pediat. 73: 222 (1968).PubMedGoogle Scholar
  176. 176.
    Edwards, J. H., Uses of amniocentesis, Lancet I: 608 (1970).Google Scholar
  177. 177.
    Fraser, G. R., and A. G. Motulsky, Genetic effects of selective abortion for inherited disease, Amer. Society Human Genetics, Program and Abstracts, Austin, Texas, 1968.Google Scholar
  178. 178.
    Littlefield, J. W., Selection of hybrids from matings of fibroblasts in vitro and their presumed recombinants, Science 145: 709 (1964).PubMedGoogle Scholar
  179. 179.
    Albertini, R. J. and R. DeMars, Diploid azaguanine-resistant mutants of cultured human fibroblasts, Science 169: 482 (1970).Google Scholar
  180. 180.
    Nadler, H. L., C. M. Chacko, and M. Rachmeler, Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-l-phosphate uridyl transferase activity, Proc. Nat. Acad. Sci., 67: 976 (1970).PubMedGoogle Scholar
  181. 181.
    Littlefield, J. W., The use of drug-resistant markers to study the hybridization of mouse fibroblasts, Exp. Cell Res. 41: 190 (1966).PubMedGoogle Scholar
  182. 182.
    Siniscalco, M., B. Knowles, and C. Steplewski, Hybridization of human diploid strains carrying X-linked mutants and its potentials for studies of somatic cell genetics, in Heterospecific Genome Interaction (V. Defendi, ed.), The Wistar Institute Press (Symposium Monograph No. 9): 117, Philadelphia (1969).Google Scholar
  183. 183.
    Krooth, R. S., G. A. Darlington, and A. A. Velazquez, The genetics of cultured mammalian cells, Ann. Rev. Genetics 2: 141 (1968).Google Scholar
  184. 184.
    Puck, T. T. and F. Kao, Genetics of somatic mammalian cells. V. Treatment with 5-bromodeoxyuridine and visible light for isolation of nutritionally deficient mutants, Proc. Nat. Acad. Sci. 58: 1227 (1967).PubMedGoogle Scholar
  185. 185.
    Nichols, J., and G. G. Gibson, Antenatal diagnosis of the adrenogenital syndrome, Lancet II: 1068 (1967).Google Scholar
  186. 186.
    Kohn, G., and A. Robinson, Tetraploidy in cells cultured from amniotic fluid, Lancet II: 778 (1970).PubMedGoogle Scholar
  187. 187.
    Mahoney, M. J., Presented at the Meeting on Antenatal Diagnosis, Chicago, Illinois, June 11–12, 1970.Google Scholar
  188. 188.
    Walker, S., C. L. Y. Lee, and N. M. Gregson, Polyploidy in cells cultured from amniotic fluid, Lancet II: 1137 (1970).PubMedGoogle Scholar
  189. 189.
    Brady, R. O., B. W. Uhlendorf, and C. B. Jacobson, Personal communication.Google Scholar
  190. 190.
    Epstein, C. J., Personal communication.Google Scholar
  191. 191.
    O’Brien, J. S., Personal communication.Google Scholar
  192. 192.
    Mahoney, M. J., Personal communication.Google Scholar
  193. 193.
    Shih, V. E., and J. D. Schulman, Ornithine-ketoacid transaminase activity in human skin and amniotic fluid cell culture, Clin. Chim. Acta 27: 73 (1970).PubMedGoogle Scholar

Added References

  1. 194.
    O’Brien, J. S., Ganglioside storage diseases, N. Engl. J. Med. 284: 893 (1971).PubMedGoogle Scholar
  2. 195.
    Nadler, H. L., Unpublished data.Google Scholar
  3. 196.
    Schneider, E. L., W. G. Ellis, R. O. Brady, J. R. McCulloch, and C. J. Epstein, Prenatal Gaucher’s disease: In utero diagnosis and fetal pathology. Submitted for publication.Google Scholar
  4. 197.
    Dancis, J. “Proceedings of the Conference on Antenatal Diagnosis,” Chicago, Illinois, June 11–12, 1970.Google Scholar
  5. 198.
    Brady, R. O., B. W. Uhlendorf, and C. B. Jacobson, Fabry’s disease: Antenatal detection, Science 172: 174 (1971).PubMedGoogle Scholar
  6. 199.
    Epstein, C. J., Personal communication.Google Scholar
  7. 200.
    Mukherjee, A. B., P. Y. Blattner, and H. M. Nitowsky, Sex chromatin fluorescence in human amniotic fluid cells. Lancet 2: 709 (1971).PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1972

Authors and Affiliations

  • Henry L. Nadler
    • 1
    • 2
  1. 1.Department of PediatricsNorthwestern UniversityUSA
  2. 2.Children’s Memorial HospitalUSA

Personalised recommendations