Chorionic Villus Sampling

  • Karin J. Blakemore
  • Maurice J. Mahoney


Since the introduction of prenatal diagnosis by amniocentesis, the most unpleasant aspects of the process according to most women have been the long wait to have the test and the long wait for results. Physicians and couples alike have wished for a technique that could be used in the first weeks of pregnancy. An alternative prenatal diagnostic method that offers an earlier and for many couples a more rapid answer than amniocentesis is currently under intense clinical and laboratory investigation. In the past few years, chorionic villus sampling (CVS), also called chorionic villous biopsy, has evolved as a useful clinical procedure (Fraccaro et al., 1985), although much work remains to be done regarding its accuracy and safety. By learning of an affected fetus in the first trimester, couples are spared many weeks of anxious waiting and their privacy about the pregnancy is assured. The pregnant woman is offered the option of a first trimester termination, which is medically safer than late abortion and much less taxing physically for her. The emotional stresses are not eliminated, but in some respects they are lessened by this option. Looking ahead, the diagnosis of some disorders will surely lend themselves to in utero treatment that may need to begin before the second trimester. CVS would be an essential diagnostic tool for detecting an affected fetus in such cases.


Prenatal Diagnosis Glycogen Storage Disease Chorionic Villus Biopsy Forceps Chorionic Villus Sampling 
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  1. Auerbach, A. D., 1984, Prenatal diagnosis in twenty-seven pregnancies at risk for Fanconi anemia, Am. J.Hum. Genet. 36:184S (abstract).Google Scholar
  2. Bakker, E. E., Groor, N., Wrogemann, K., et al., 1985, Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs, Lancet 1:655.PubMedCrossRefGoogle Scholar
  3. Besancon, A. M., Belon, J. P., Castelnau, L., et al., 1984, Prenatal diagnosis of atypical Tay-Sachs disease by chorionic villus sampling, Prenat. Diagn. 4:43.CrossRefGoogle Scholar
  4. Beyer, E. M., and Winderschain, Y. A., 1984, Activity and multiple forms of α-L-fucosidase and hexosaminidase in chorion biopsy specimens and some fetal organs, Prenat. Diagn. 4:43PubMedCrossRefGoogle Scholar
  5. Blakemore, K. J., Watson, M. S., Lieber, W. A., et al., 1983, Prenatal diagnosis in the first trimester using chorionic villi, Am. J. Hum. Genet. 35:78A (abstract).Google Scholar
  6. Blakemore, K. J., Watson, M. S., Samuelson, J., et al., 1984, A method of processing first-trimester chorionic villous biopsies for cytogenetic analysis, Am. J. Hum. Genet. 36:1386.PubMedGoogle Scholar
  7. Blakemore, K. J., Samuelson, J., Breg, W. R., et al., 1985a, Maternal metaphases on direct processing of first trimester decidua, Hum. Genet. 69:380.PubMedCrossRefGoogle Scholar
  8. Blakemore, K. J., Mahoney, M. J., and Hobbins, J. C., 1985b, Infection and chorionic villus sampling, Lancet 2:339.Google Scholar
  9. Blakemore, K. J., Baumgarten, A., Shoenfeld, M., et al., Rise in maternal serum α-fetoprotein concentration following chorionic villus sampling and the possibility of isoimmunization, Am J. Obstet. Gynecol. (submitted).Google Scholar
  10. Boehm, C. D., and Kazazian, H. H., 1984, Error in prenatal diagnosis by DNA analysis, N. Engl. J. Med. 311:58.PubMedGoogle Scholar
  11. Boué, J., Oberle, I., Heilig, R., et al., 1985, First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe, Hum. Genet. 69:272.PubMedCrossRefGoogle Scholar
  12. Brambati, B., and Simoni, G., 1983, Fetal diagnosis of trisomy 21 in the first trimester of pregnancy, Lancet 1:586.PubMedGoogle Scholar
  13. Brambati, B., Oldrini, A., Simoni, G., et al., 1984, First trimester fetal karyotyping in twin pregnancy, J. Med. Genet. 21:58.PubMedCrossRefGoogle Scholar
  14. Bramabati, B., Simoni, G., Danesino, C., et al., 1985, First trimester fetal diagnosis of genetic disorders: Clinical evaluation of 250 cases, J. Med. Genet. 22:92.CrossRefGoogle Scholar
  15. Brown, B. I., 1984, Prenatal diagnosis of glycogen storage disease, Am. J. Hum. Genet. 36:186S (abstract).Google Scholar
  16. Cadkin, A. V., Ginsberg, N. A., Pergament, E., et al., 1984, Chorionic villi sampling: A new technique for detection of genetic abnormalities in the first trimester, Radiology 151:159.PubMedGoogle Scholar
  17. Chang, J. C., and Kan, Y. W., 1981, Antenatal diagnosis of sickle cell anaemia by direct analysis of the sickle mutation, Lancet 2:1127.PubMedCrossRefGoogle Scholar
  18. Christiaens, G. C. M. L., and Stoutenbeek, P., 1984, Spontaneous abortion in proven intact pregnancies, Lancet 2:571.PubMedCrossRefGoogle Scholar
  19. DeMartinville, B., Blakemore, K. J., Mahoney, M. J., et al., 1984, DNA analysis of first-trimester chorionic villous biopsies: Test for maternal contamination, Am. J. Hum. Genet. 36:1357.Google Scholar
  20. Department of Obstetrics and Gynecology, Tietung Hospital, Anshan, China, 1975, Fetal sex prediction by sex chromatin of chorionic villi cells during early pregnancy, Chin. Med. J. 1:117.Google Scholar
  21. Dumez, Y., Goosens, M., Poenaru, L., et al., 1984, La biopsie de villosités choriales a la pince sous controle ultrasonore: Technique et resultats, J. Genet. Hum. 32:335.PubMedGoogle Scholar
  22. Elles, R. G., Williamson, R., Niazi, M., et al., 1983, Absence of material contamination of chorionic villi used for fetal-gene analysis, N. Engl. J. Med. 308(24): 1433.PubMedCrossRefGoogle Scholar
  23. Evans, E. P., Burtenshaw, M. D., and Ford, C. E., 1972, Chromosomes of mouse embryos and newborn young: Preparations from membranes and tail tips, Stain Technol. 47(5):229.PubMedGoogle Scholar
  24. Evans, M. I., Kolodny, E., Schulman, J. D., et al., 1985, Lysosomal enzymes in chorionic villi, cultured amniocytes, and cultured skin fibroblasts, in: Society for Gynecologic Investigation, 32nd Annual Meeting, March 1985, Scientific Program and Abstracts, p. 39 (70P).Google Scholar
  25. Fensom, A. H., Jackson, M., Sanguinetti, N., et al., 1984, The use of the chorionic villi for early prenatal diagnosis of metabolic disorders, J. Med. Genet. 21:142 (abstract).Google Scholar
  26. Fleisher, L., Mitchell, D., Koppitch, F., et al., 1984, Chorionic villous samples (CVS) for the prenatal diagnosis of amino acidopathies, Am. J. Hum. Genet. 36:188S (abstract).Google Scholar
  27. Ford, J. H., and Jahnke, A. B., 1983, Handling chorionic villi for direct chromosome studies, Lancet 2:1491.Google Scholar
  28. Fox, J., Hack, A. M., Fenton, W. A., et al., Prenatal diagnosis of ornithine transcarbamylase deficiency using DNA polymorphisms, N. Engl. J. Med. (submitted).Google Scholar
  29. Fraccaro, M., Simoni, G., and Brambati, B. (eds.), 1985, First Trimester Fetal Diagnosis, Springer, Berlin.Google Scholar
  30. French, F. E., and Bierman, J. M., 1962, Probabilities of fetal mortality, Public Health Rep. 77:835.PubMedCrossRefGoogle Scholar
  31. Galjaard, H., 1985, Biochemical analysis of chorionic villi: a worldwide survey of inborn errors of metabolism, in: First Trimester Fetal Diagnosis (M. Fraccaro, G. Simoni, and B. Brambati, eds.), p. 209, Springer, Berlin.CrossRefGoogle Scholar
  32. Gibbs, D. A., Crawfurd, M. d’A., Headhouse-Benson, C. M., et al., 1984, First trimester diagnosis of Lesch-Nyhan syndrome, Lancet 2:1180.PubMedCrossRefGoogle Scholar
  33. Gilmore, D. H., and McNay, M. B., 1985, Spontaneous fetal loss rate in early pregnancy, Lancet 1: 107.PubMedCrossRefGoogle Scholar
  34. Goossens, M., Dumez, Y., Kaplan, L., et al., 1983, Prenatal diagnosis of sickle-cell’anemia in the first trimester of pregnancy, N. Engl. J. Med. 309:831.PubMedCrossRefGoogle Scholar
  35. Gosden, J. R., Mitchell, A. R., Gosden, C. M., et al., 1982, Direct vision chorion biopsy and chromosome-specific DNA probes for determination of fetal sex in first-trimester prenatal diagnosis, Lancet 2:1416.PubMedCrossRefGoogle Scholar
  36. Gosden, J. R., Gosden, C.M., Christie, S., et al., 1984, Rapid fetal sex determination in first trimester prenatal diagnosis by dot hybridization of DNA probes, Lancet 1:540.PubMedCrossRefGoogle Scholar
  37. Grabowski, G. A., Kruse, J. R., Goldberg, J. D., et al., 1984, First-trimester prenatal diagnosis of Tay-Sachs disease, Am. J. Hum. Genet. 36:1369.PubMedGoogle Scholar
  38. Grebner, E. E., Wapner, R. J., Barr, M. A., et al., 1983, Prenatal Tay-Sachs diagnosis by chorionic villi sampling, Lancet 2:286.Google Scholar
  39. Gregson, N. M., and Seabright, M., 1983, Handling chorionic villi for direct chromosome studies, Lancet 2:1491.CrossRefGoogle Scholar
  40. Gustavii, B., 1983, First-trimester chromosomal analysis of chorionic villi obtained by direct vision technique, Lancet 2:507.PubMedCrossRefGoogle Scholar
  41. Gustavii, B., 1984a, Chorionic villi sampling under direct vision, Clin. Genet. 26:297.PubMedCrossRefGoogle Scholar
  42. Gustavii, B., 1984b, Chorionic biopsy and miscarriage in first trimester, Lancet 1:562.PubMedCrossRefGoogle Scholar
  43. Gustavii, B., Chester, M. A., Edvall, H., et al., 1984, First-trimester diagnosis on chorionic villi obtained by direct vision technique, Hum. Genet. 65:373.PubMedCrossRefGoogle Scholar
  44. Hahnemann, N., 1974, Early prenatal diagnosis: A study of biopsy techniques and cell culturing from extraembryonic membranes, Clin. Genet. 6:294.PubMedCrossRefGoogle Scholar
  45. Hahnemann, N., and Mohr, J., 1968, Antenatal foetal diagnosis in the embryo by means of biopsy from extraembryonic membranes, Bull Eur. Soc. Hum. Genet. 2:23.Google Scholar
  46. Hahnemann, N., and Mohr, J., 1969, Antenatal foetal diagnosis in genetic disease, Bull. Eur. Soc. Hum. Genet. 3:47.Google Scholar
  47. Hajra, A. K., Datta, N. S., Jackson, L. G., et al., 1985, Prenatal diagnosis of Zellweger cerebrohepatorenal syndrome, N. Engl. J. Med. 312:445.PubMedCrossRefGoogle Scholar
  48. Han, A., Zhou, B., and Wang, H., 1985, Long term follow up results after aspiration of chorionic villi during early pregnancy, in: First Trimester Fetal Diagnosis (M. Fraccaro, G. Simoni, and B. Brambati, eds.), p 1, Springer, Berlin.Google Scholar
  49. Harper, P. S., Bamforth, S., Rees, D., et al., 1984, Chorion biopsy for prenatal testing in Hunter’s syndrome, Lancet 2:812.PubMedCrossRefGoogle Scholar
  50. Harper, P. S., Williams, H., Thomas, N., et al., 1985, Prenatal diagnosis of Duchenne dystrophy, Lancet 1:872.PubMedCrossRefGoogle Scholar
  51. Hassold, T., Warburton, D., Kline, J., et al., 1984, The relationship of maternal age and trisomy among trisomic spontaneous abortions, Am. J. Hum. Genet. 36:1349.PubMedGoogle Scholar
  52. Hogge, W. A., Schonberg, S. A., and Golbus, M. S., 1985, Prenatal diagnosis by chorionic villus sampling: Do villi reliably reflect the fetal status?, in: Society for Gynecologic Investigation, 32nd Annual Meeting, March 1985, Scientific Program and Abstracts, p. 53 (93).Google Scholar
  53. Holme, E., Lindblad, B., and Lindstedt, S., 1985, Possibilities for treatment and for early prenatal diagnosis of hereditary tyrosinaemia, Lancet 1:527.PubMedCrossRefGoogle Scholar
  54. Horwell, D. H., Loeffler, F. E., and Coleman, D. V., 1983, Assessment of a transcervical aspiration technique for chorionic villus biopsy in the first trimester of pregnancy, Br. J. Obstet. Gynaecol. 90:196.PubMedCrossRefGoogle Scholar
  55. Jackson, L., 1985, CVS Newsl. (Jefferson Medical College, Philadelphia) 1985 (February 5).Google Scholar
  56. Kalousek, D. K., and Dill, F. J., 1983, Chromosomal mosaicism confined to the placenta in human conceptions, Science 221:665.PubMedCrossRefGoogle Scholar
  57. Kan, Y. W., Golbus, M. S., and Dozy, A. M., 1976, Prenatal diagnosis of α-thalassemia: Clinical application of molecular hybridization, N. Engl. J. Med. 295:1165.PubMedCrossRefGoogle Scholar
  58. Kanhai, H. H. H., Bennebroek Gravenhorst, J., van’t Veer, M. B., et al., 1984, Chorionic biopsy in management of severe rhesus isoimmunisation, Lancet 2:157.PubMedCrossRefGoogle Scholar
  59. Kazy, S., Rozovsky, I. S., and Bakharev, V. A., 1982, Chorion biopsy in early pregnancy: A method of early prenatal diagnosis for inherited disorders, Prenat. Diagn. 2:39.CrossRefGoogle Scholar
  60. Kazy, S., Stigar, A. M., and Bakharev, V. A., 1980, Chorionic biopsy under immediate real-time (ultrasound) control, Orvosi Hetilap 121:2765.PubMedGoogle Scholar
  61. Kleijer, W. J., Mancini, G. M. S., Jahoda, M. G. J., et al., 1984a, First-trimester diagnosis of Krabbe’s disease by direct enzyme analysis of chorionic villi, N. Engl. J. Med. 311:1257.PubMedGoogle Scholar
  62. Kleijer, W. J., van Diggelen, O. P., Janse, H. C., et al., 1984b, First trimester diagnosis of Hunter syndrome on chorionic villi, Lancet 2:472.PubMedCrossRefGoogle Scholar
  63. Kleijer, W. J., Thoomes, R., Galjaard, H., et al., 1984c, First-trimester (chorion biopsy) diagnosis of citrullinaemia and methylmalonicaciduria, Lancet 2:1340.PubMedCrossRefGoogle Scholar
  64. Kullander, S., and Sandahl, B., 1973, Fetal chromosome analysis after transcervical placental biopsies during early pregnancy, Acta Obstet. Gynecol. Scand. 52:355.PubMedCrossRefGoogle Scholar
  65. Landy, H. J., Keith, L., and Keith, D., 1982, The vanishing twin, Acta Genet. Med. Gemellol. 31:179.PubMedGoogle Scholar
  66. Lippman, A., Vekemans, M. J. J., and Perry, T., 1984, Fetal mortality at the time of chorionic villi sampling, Hum. Genet. 68:337.PubMedCrossRefGoogle Scholar
  67. Liu, D. T. Y., Mitchell, J., Johnson, J., et al., 1983, Trophoblast sampling by blind transcervical aspiration, Br. J. Obstet. Gynaecol. 90:1119.PubMedCrossRefGoogle Scholar
  68. Lykkelund, C., Søndergaard, F., Therkelsen, A. J., et al., 1983, Feasibility of first trimester prenatal diagnosis of Hunter syndrome, Lancet 2:1147.PubMedCrossRefGoogle Scholar
  69. MacKenzie, I. Z., Lindenbaum, R. H., Patel, C., et al., 1983, Prenatal diagnosis of an unbalanced chromosome translocation identified by direct karyotyping of chorionic biopsy, Lancet 2:1426.PubMedCrossRefGoogle Scholar
  70. Mahoney, M. J., Kraus, J. P., and Blakemore, K. J., 1984, Presentation at the International Symposium on First Trimester Fetal Diagnosis, October 25–27, 1984, Rapallo, Italy,Google Scholar
  71. Markert, C. L., and Petters, R. M., 1978, Manufactured hexaparental mice show that adults are derived from three embryonic cells, Science 202:56.PubMedCrossRefGoogle Scholar
  72. Marsh, J., and Fensom, H., 1985, 4-Methylumbelliferyl α-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease, Clin. Genet. 27:258.PubMedCrossRefGoogle Scholar
  73. Marsk, L., Søndergaard, F., Sechier, J., et al., 1984, Diagnostic transcervical chorionic biopsies in first trimester pregnancies, Clin. Genet. 26:262.CrossRefGoogle Scholar
  74. Mikkelson, M., 1985, Cytogenetic findings in first trimester chorionic villi biopsies: a collaborative study, in: First Trimester Fetal Diagnosis (M. Fraccaro, G. Simoni, and B. Brambati, eds.), p. 109, Springer, Berlin.CrossRefGoogle Scholar
  75. Mikkelsen, M., Søndergaard, F., Tønnesen, T., et al., 1984, First trimester biopsies of chorionic villi for prenatal diagnosis: Experience of two laboratories, Clin. Genet. 26:263.CrossRefGoogle Scholar
  76. Milunsky, A., Atkins, L., and Littlefield, J. W., 1971, Polyploidy in prenatal genetic diagnosis, J. Pediatr. 79:303.PubMedCrossRefGoogle Scholar
  77. Mulcahy, M., Roberman, B., and Reid, S. E., 1984, Chorion biopsy, cytogenetic diagnosis, and selective termination in a twin pregnancy at risk of haemophilia, Lancet 2:866.PubMedCrossRefGoogle Scholar
  78. Niazi, M., Coleman, D. V., and Loeffler, F. E., 1981, Trophoblast sampling in early pregnancy. Culture of rapidly dividing cells from immature placental villi, Br. J. Obstet. Gynaecol. 88:1081.PubMedCrossRefGoogle Scholar
  79. Nordenskjold, F., and Gustavii, B., 1984, Direct-vision chorionic villi biopsy for prenatal diagnosis in the first trimester, J. Reprod. Med. 29(8):572.PubMedGoogle Scholar
  80. Oberle, L, Mandel, J. L., Boue, J., et al., 1985, Polymorphic DNA markers in prenatal diagnosis of fragile X syndrome, Lancet 1:871.PubMedCrossRefGoogle Scholar
  81. Old, J. M., Ward, R. H. T., Karagozlu, F., et al., 1982, First-trimester fetal diagnosis for haemoglobinopathies: Three cases, Lancet 2:1414.Google Scholar
  82. Patrick, A. D, 1984, Prenatal diagnosis of inherited metabolic diseases, in: Prenatal Diagnosis (C. H. Rodeck and K. H. Nicolaides, ed.), p. 128, Wiley, Chichester.Google Scholar
  83. Pergament, E., Ginsberg, N., Verlinsky, Y., et al., 1983, Prenatal Tay-Sachs diagnosis by chorionic villi sampling, Lancet 2:286.CrossRefGoogle Scholar
  84. Perry, T. B., Vekemans, M. J. J., Lippman, A., et al., 1985, Chorionic villi sampling: Clinical experience, immediate complications, and patient attitudes, Am. J. Obstet. Gynecol. 151:161.PubMedGoogle Scholar
  85. Pitmon, D., Extermann, P., Graff, P., et al., 1984, Simplified chromosome preparations from chorionic villi obtained by chorincentesis or derived from induced abortions, Ann. Genet. 27:254.PubMedGoogle Scholar
  86. Poenaru, L., Kaplan, L., Dumez, J., et al., 1984a, Evaluation of possible first trimester prenatal diagnosis in lysosomal diseases by trophoblast biopsy, Pediatr. Res. 18:1032.PubMedGoogle Scholar
  87. Poenaru, L., Castelnau, L., Dumez, Y., et al., 1984b, First-trimester prenatal diagnosis of mucolipidosis II (I-cell disease) by chorionic biopsy, Am. J. Hum. Genet. 36:1379.PubMedGoogle Scholar
  88. Poenaru, L., Castelnau, L., Choiset, A., et al., 1985, Lysosomal hydrolase activity in chorionic villi and embryonic cells in culture, Hum. Genet. 69:378.PubMedCrossRefGoogle Scholar
  89. Rhine, S. A., and Milunsky, A., 1979, Utilization of trophoblast for early prenatal diagnosis, in: Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment (A. Milunsky, ed.), p. 527, Plenum Press, New York.Google Scholar
  90. Rhine, S. A., Palmer, C., and Thompson, J. F., 1977, A simple alternative to amniocentesis for first trimester prenatal diagnosis, Birth Defects Orig. Artic. Ser. XIII(3D):231.Google Scholar
  91. Rodeck, C. H., Morsman, J. M., Gosden, C., et al., 1983a, Development of an improved technique for first-trimester microsampling of chorion, Br. J. Obstet. Gynaecol. 90:1113.PubMedCrossRefGoogle Scholar
  92. Rodeck, C. H., Morsman, J. M., Nicolaides, K. H., et al., 1983b, A single-operator technique for first-trimester chorion biopsy, Lancet 2:1340.PubMedCrossRefGoogle Scholar
  93. Rosatelli, C., Falchi, A. M., Tuveri, T., et al., 1985, Prenatal diagnosis of beta-thalassaemia with the synthetic-oligomer technique, Lancet 1:241.PubMedCrossRefGoogle Scholar
  94. Sachs, E. S., Van Hemel, J. O., Galjaard, H., et al., 1983, First trimester chromosomal analysis of complex structural rearrangements with the RHA banding on chorionic villi, Lancet 2:1426.PubMedCrossRefGoogle Scholar
  95. Shapiro, L. R., and Wilmot, P. L., 1986, Prenatal diagnosis of the fragile X syndrome, Am. J. Med. Genet. 23:325.PubMedCrossRefGoogle Scholar
  96. Simoni, G., Brambati, B., Danesino, C., et al., 1983, Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy, Hum. Genet. 63:349.PubMedCrossRefGoogle Scholar
  97. Simoni, G., Brambati, B., Danesino, C., et al., 1984, Diagnostic application of first trimester trophoblast sampling in 100 pregnancies, Hum. Genet. 66:252.PubMedCrossRefGoogle Scholar
  98. Smidt-Jensen, S., and Hahnemann, N., 1984, Transabdominal fine needle biopsy from chorionic villi in the first trimester, Prenat. Diagn. 4:163.PubMedCrossRefGoogle Scholar
  99. Smidt-Jensen, S., Hahnemann, N., and Therkelson, A. J., 1985, Transabdominal chorionic villi sampling for first trimester fetal diagnosis, in: First Trimester Fetal Diagnosis (M. Fraccaro, G. Simoni, and B. Brambati, eds.), p. 51, Springer, Berlin.CrossRefGoogle Scholar
  100. Szabo, J., Herczeg, J., Thurzo, L., et al., 1984, Katyotyping from uncultured human trophoblast in the first trimester of pregnancy, Obstet. Gynecol. 64(6):807.PubMedGoogle Scholar
  101. Thiede, H. A., 1960, Studies of the human trophoblast in tissue culture, Obstet. Gynecol. 79:636.Google Scholar
  102. Tommerup, N., Søndergaard, F., Tønnesen, T., et al., 1985, First trimester prenatal diagnosis of a male fetus with fragile X, Lancet 1:870.PubMedCrossRefGoogle Scholar
  103. Tønnesen, T., Søndergaard, F., Guttler, F., et al., 1984a, Exclusion of haemophilia B in a male fetus by chorionic villus biopsy, Lancet 2:932.PubMedCrossRefGoogle Scholar
  104. Tønnesen, T., Søndergaard, F., Mikkelsen, M., et al., 1984b, X-chromosome-specific probe DX13 for carrier detection and first trimester prenatal diagnosis in haemophilia A, Lancet 2:1269.PubMedCrossRefGoogle Scholar
  105. Tønnenson, T., Horn, N., Søndergaard, F., et al., 1985, Measurement of copper in chorionic villi for first-trimester diagnosis of Menkes’ disease, Lancet 1:1038.CrossRefGoogle Scholar
  106. Upadhyaya, M., Archer, I. M., Harper, P. S., et al., 1984, DNA and enzyme studies on chorionic villi for use in antenatal diagnosis, Clin. Chim. Acta 140:39.PubMedCrossRefGoogle Scholar
  107. Vergnaud, G., Kaplan, L., Weissenbach, J., et al., 1984, Rapid and early determination of sex using trophoblast biopsy speciments and Y chromosome specific DNA probes, Br. Med. J. 289:73.CrossRefGoogle Scholar
  108. Verlinsky, Y., Chu, L., and Pergament, E., 1984, Chromosomal preparations of chorionic villi samples (CVS), Karyogram 10(1):1.Google Scholar
  109. Vimal, C. M., Fensom, A. H., Heaton, D., et al., 1984, Prenatal diagnosis of argininosuccinicaciduria by analysis of cultured chorionic villi, Lancet 2:521.PubMedCrossRefGoogle Scholar
  110. Von Koskull, H., Aula, P., Ammala, P., et al., 1985, Improved technique for the expression of fragile-X in cultured amniotic fluid cells, Hum. Genet. 69:218.CrossRefGoogle Scholar
  111. Warburton, D., and Byrne, J., 1986, Estimates of the prevalence of chromosome anomalies expected in chorionic villus sampling procedures, in: Chorionic Villus Sampling: Fetal Diagnosis of Genetic Diseases in the First Trimester (B. Brambati, G. Simoni, and S. E. Fabro, eds.), p. 23, Dekker, New York (in press).Google Scholar
  112. Ward, R. H. T., Modell, B., Petrou, M., et al., 1983, Method of sampling chorionic villi in first trimester of pregnancy under guidance of real time ultrasound, Br. Med. J. 286:1542.CrossRefGoogle Scholar
  113. Warren, R. C., Butler, J., Morsman, J. M., et al., 1985, Does chorionic villus sampling cause fetomaternal haemorrhage?, Lancet 1:691.PubMedCrossRefGoogle Scholar
  114. Wass, D., and Bennett, M. J., 1985, Infection and chorionic villus sampling, Lancet 2:339.Google Scholar
  115. Watanabe, M., Ito, T., Yammamoto, M., et al., 1978, Origin of mitotic cells of the chorionic villi in direct chromosome analysis, Hum. Genet. 44:191.PubMedCrossRefGoogle Scholar
  116. Williams, H., Brown, C.S., Thomas, N. S. T., et al., 1983, First trimester fetal sexing in pregnancy at risk for Duchenne muscular dystrophy, Lancet 2:568.PubMedCrossRefGoogle Scholar
  117. Williamson, R., Eskdale, J., Coleman, D. V., et al., 1981, Direct gene analysis of chorionic villi: A possible technique for first-trimester antenatal diagnosis of haemoglobinopathies, Lancet 2:1125.PubMedCrossRefGoogle Scholar
  118. Wilson, R. D., Kendrick, V., Wittmann, B. K., et al., 1984, Risk of spontaneous abortion in ultrasonically normal pregnancies, Lancet 2:920.PubMedCrossRefGoogle Scholar
  119. Yamamoto, M., Fujimori, R., Takashi, I., et al., 1975, Chromosome studies in 500 induced abortions, Humangenetik 29:9.PubMedCrossRefGoogle Scholar

Copyright information

© Aubrey Milunsky 1986

Authors and Affiliations

  • Karin J. Blakemore
    • 1
  • Maurice J. Mahoney
    • 2
  1. 1.Department of Human GeneticsYale University School of MedicineNew HavenUSA
  2. 2.Departments of Human Genetics, Pediatrics, and Obstetrics-GynecologyYale University School of MedicineNew HavenUSA

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