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Advances in Human Genetics 1 pp 1–25Cite as

Chorionic Villus Sampling

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Part of the Advances in Human Genetics book series (AHUG,volume 17)

Abstract

The traditional approach to prenatal diagnosis of genetic defects has involved the use of amniocentesis at 16 menstrual weeks to obtain fetal cells for analysis. These cells are cultured for 2–4 weeks in order to provide an adequate number of cells for analysis, resulting in a prenatal diagnosis being made at 18–20 gestational weeks. If the diagnosis of an affected fetus is made, then the parents have as one option a second-trimester termination of pregnancy. This late termination of pregnancy involves increased medical risk to the mother as compared to a first-trimester termination and also causes significant psychological trauma. Because of this, efforts have been directed toward developing an earlier method of prenatal diagnosis.

Keywords

  • Prenatal Diagnosis
  • Chorionic Villus
  • Chorionic Villus Sampling
  • Aneuploidy Rate
  • Propionic Acidemia

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.

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References

  • Aladjem, S., 1969, Fetal assessment through biopsy of the human placenta, in: The Fetoplacental Unit (A. Pecile and C. Finzi, eds.), pp. 392–402, Excerpta Medica Foundation, Amsterdam.

    Google Scholar 

  • Alvarez, H., 1966, Diagnosis of hydatidiform mole by transabdominal placental biopsy, Am. J. Obstet. Gynecol. 95:538–541.

    PubMed  CAS  Google Scholar 

  • Barela, A. I., Kleinman, G. E., Golditch, I. M., Menke, D. J., Hogge, W. A., and Golbus, M. S., 1986, Septic shock with renal failure after chorionic villus sampling, Am. J. Obstet. Gynecol. 154:1100–1102.

    PubMed  CAS  Google Scholar 

  • Besancon, A. M., Belon, J. P., Castelnau, L., Dumez, Y., and Poenaru, L., 1984, Prenatal diagnosis of atypical Tay-Sachs disease by chorionic villi sampling, Prenat. Diagn. 4:365–370.

    CrossRef  PubMed  CAS  Google Scholar 

  • Beyer, E. M., and Wiederschain, G., 1984, Activity and multiple forms of alpha-Lfucosidase and hexodaminidase in chorion biopsy specimens and some fetal organs, Prenat. Diagn. 4:43–49.

    CrossRef  PubMed  CAS  Google Scholar 

  • Blakemore, K. J., Watson, M. S., Samuelson, J., Breg, W. R., and Mahoney, M. J., 1984, A method of processing first-trimester chorionic villous biopsies for cytogenetic analysis, Am. J. Hum Genet. 36:1386–1393.

    PubMed  CAS  Google Scholar 

  • Boué, J., Oberlé, I., Heilig, R., Mandel, J. L., Moser, A., Moser, H., Larsen, J. W., Dumez, Y., and Boué, A., 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. 69:272–274.

    CrossRef  PubMed  Google Scholar 

  • Burgoyne, P., 1983, Direct chromosome preparations from chorionic villi, Prenat. Diagn. Group News. 7:3–4.

    Google Scholar 

  • Dallapiccola, B., Novelli, G., Ferranti, G., Pachi, A., Cristiani, M. L., and Magnani, M., 1986, First trimester monitoring of a pregnancy at risk for glucose phosphate isomerase deficiency, Prenat. Diagn. 6:101–107.

    CrossRef  PubMed  CAS  Google Scholar 

  • David, M., and Forest, M. G., 1984, Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency, J. Pediatr. 105:799–803.

    CrossRef  PubMed  CAS  Google Scholar 

  • Department of Obstetrics and Gynecology, Tietung Hospital, Anshan Iron and Steel Company, 1975, Fetal sex prediction by sex chromatin of chorionic villi cells during early pregnancy, Chin. Med. J. 1:117–126.

    Google Scholar 

  • Dumez, Y., Goossens, M., Boué, J., Poenaru, L., Dommergues, M., and Henrion, R., 1985, Chorionic sampling using rigid forceps under ultrasound control, in: First Trimester Fetal Diagnosis (M. Fraccaro et al., eds.), pp. 38–45, Springer-Verlag, Berlin.

    Google Scholar 

  • Eichenbaum, S. Z., Krumins, E. J., Fortune, D. W., and Duke, J., 1986, False-negative finding on chorionic villus sampling, Lancet 2:391.

    CrossRef  Google Scholar 

  • Elles, R. G., Williamson, R., Niazi, M., Coleman, D. V., and Horwell, D. H., 1983, Absence of maternal contamination of chorionic villi used for fetal-gene analysis, N. Engl. J. Med. 308:1433–1435.

    CrossRef  PubMed  CAS  Google Scholar 

  • 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. 47:229–234.

    PubMed  CAS  Google Scholar 

  • Farrall, M., Law, H.-Y., Rodeck, Ch. H., Warren, R., Stanier, P., Super, M., Lissens, W., Scambler, P., Watson, E., Wainwright, B., and Williamson, R., 1986, First trimester prenatal diagnosis of cystic fibrosis with linked DNA probes, Lancet 2:1402–1405.

    CrossRef  Google Scholar 

  • 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 study on 52,965 amniocenteses, Prenat. Diagn. 4:5–44.

    CrossRef  PubMed  Google Scholar 

  • Ford, J. H., and Jahnke, A. B., 1983, Handling chorionic villi for direct chromosome studies, Lancet 2:1491–1492.

    Google Scholar 

  • Gibbs, D. A., McFadyen, I. R., Crawfurd, M. A., Keizer, E. E. M., Headhouse-Benson, C. N., Wilson, T. M., and Farrant, P. H., 1984, First trimester diagnosis of Lesch-Nyhan syndrome, Lancet 2:1180–1183.

    CrossRef  PubMed  CAS  Google Scholar 

  • Gilmore, D. H., and McNay, M. B., 1985, Spontaneous fetal loss rate in early pregnancy, Lancet 1:107.

    CrossRef  PubMed  CAS  Google Scholar 

  • Gitschier, J., Lawn, R. M., Rotblat, F., Goldman, E., and Tuddenham, E. G. D., 1985, Antenatal diagnosis and carrier detection of haemophilia A using factor VIII gene probe, Lancet 1:1093–1094.

    CrossRef  PubMed  CAS  Google Scholar 

  • Golbus, M. S., Loughman, W. D., Epstein, C. J., Halbasch, G., Stephens, J. D., and Hall, B. D., 1979, Prenatal genetic diagnosis in 3000 amniocenteses, N. Engl. J. Med. 300:157–163.

    CrossRef  PubMed  CAS  Google Scholar 

  • Goldberg, J. D., Grabowski, G. A., Driscoll, M. C., Gordon, R. E., Berkowitz, R. L., and Desnick, R. J., 1985, First trimester fetal diagnosis: Principles and potential pitfalls in enzymatic and molecular diagnoses, in: First Trimester Fetal Diagnosis (M. Fraccaro et al., eds.), pp. 218–234, Springer-Verlag, Berlin.

    Google Scholar 

  • Goossens, M., Dumez, Y., Kaplan, L., Lupker, M., Chabret, C., Henrion, R., and Rosa, J., 1983, Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy, N. Engl. J. Med. 309:831–833.

    CrossRef  PubMed  CAS  Google Scholar 

  • Gosden, J. R., Mitchell, A. R., Gosden, C. M., Rodeck, C. H., and Morsman, J. M., 1982, Direct vision chorion biopsy and chromosome-specific DNA probes for determination of fetal sex in first-trimester prenatal diagnosis, Lancet 2:1416–1419.

    CrossRef  PubMed  CAS  Google Scholar 

  • Gosden, J. R., Gosden, C. M., Christie, S., Morsman, J. M., and Rodeck, C. H., 1984, Rapid fetal sex determination in first trimester prenatal diagnosis by dot hybridisation of DNA probes, Lancet 1:540–541.

    CrossRef  PubMed  CAS  Google Scholar 

  • Grabowski, G. A., Kruse, J. R., Goldberg, J. D., Chockkalingam, K., Gordon, R. E., Blakemore, K. J., Mahoney, M. J., and Desnick, R. J., 1984, First trimester prenatal diagnosis of Tay-Sachs disease, Am. J. Hum Genet. 36:1369–1378.

    PubMed  CAS  Google Scholar 

  • Grebner, E. E., Wapner, R. J., Barr, M. A., and Jackson, L. G., 1983, Prenatal Tay—Sachs diagnosis by chorionic villi sampling, Lancet 2:286–287.

    Google Scholar 

  • Gustavii, B., 1983, First trimester chromosomal analysis of chorionic villi obtained by direct vision technique, Lancet 2:507–508.

    CrossRef  PubMed  CAS  Google Scholar 

  • Gustavii, B., 1984, Chorionic biopsy and miscarriage in first trimester, Lancet 1:562.

    CrossRef  PubMed  CAS  Google Scholar 

  • Gustavii, B., 1987, Endoscopic chorion villus sampling, in: Chorion Villus Sampling (E. M. Symonds and M. S. Golbus, eds.), pp. 137–141, Chapman and Hall, London.

    Google Scholar 

  • Hahnemann, N., 1974, Early prenatal diagnosis; a study of biopsy techniques and cell culturing from extraembryonic membranes, Clin. Genet. 6:294–306.

    CrossRef  PubMed  CAS  Google Scholar 

  • Hahnemann, N., and Mohr, J., 1968, Genetic diagnosis in the embryo by means of biopsy from extraembryonic membranes, Bull. Eur. Soc. Hum. Genet. 2:23–29.

    Google Scholar 

  • Hajra, A. K., Datta, N. S., Jackson, L. G., Moser, A. B., Moser, H. W., Larsen, J. W., and Powers, J., 1985, Prenatal diagnosis of Zellweger cerebrohepatorenal syndrome, N. Engl. J. Med. 312:445–446.

    CrossRef  PubMed  CAS  Google Scholar 

  • Harper, P. S., Bamforth, S., Rees, D., and Upadhyaya, 1984, Chorion biopsy for prenatal testing in Hunter‚s syndrome, Lancet 2:812–813.

    CrossRef  PubMed  CAS  Google Scholar 

  • Heaton, D. E., Czepulkowski, B. H., Horwell, D. H., and Coleman, D. V., 1984, Chromosome analysis of first trimester chorionic villus biopsies prepared by a maceration technique, Prenat. Diagn. 4:279–287.

    CrossRef  PubMed  CAS  Google Scholar 

  • Hertig, A. T., and Rock, J., 1941, Two human ova of the pre-villous stage having an ovulation age of about eleven and twelve days respectively, Contrib. Embryol. Carnegie Inst. 29:127–156.

    Google Scholar 

  • Hogge, W. A., Schonberg, S. A., and Golbus, M. S., 1986, Chorionic villus sampling: Experience of the first 1000 cases, Am. J. Obstet. Gynecol. 154:1249–1252.

    PubMed  CAS  Google Scholar 

  • Holme, E., Lindblad, B., and Lindstedt, S., 1985, Possibilities for treatment and for early prenatal diagnosis of hereditary tyrosinaemia, Lancet 1:527.

    CrossRef  PubMed  CAS  Google Scholar 

  • Horwell, D. H., 1984, Further experience with chorionic villus aspiration, J. Obstet. Gynaecol. 5:66.

    Google Scholar 

  • 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. 90:196–198.

    CrossRef  PubMed  CAS  Google Scholar 

  • Jackson, L. (ed.), 1985, CVS Latest News (Jefferson Medical College, Philadelphia), 1985(February 5).

    Google Scholar 

  • Jackson, L. (ed.), 1986, CVS Latest News (Jefferson Medical College, Philadelphia), 1986(September 12).

    Google Scholar 

  • Jones, S., Dorfmann, A., Patton, L., Pitt, C., Joyce, B., Sigler, M. E., Fleming, G., Rosen, L., and Schulman, J. D., 1986, Non-viable pregnancy in patients anticipating chorionic villus sampling, Am. J. Hum. Genet. 34:A257.

    Google Scholar 

  • Kazy, Z., Rozovsky, I. S., Bakharev, V. A., 1982, Chorion biopsy in early pregnancy: A method of early prenatal diagnosis of inherited disorders, Prenat. Diagn. 2:39–45.

    CrossRef  Google Scholar 

  • Kleijer, W. J., Mancini, G. M. S., Jahoda, M. G. J., Vosters, R. P. L., Sachs, E. S., Niermeijer, M. F., and Galjaard, H., 1984a, First trimester diagnosis of Krabbe‚s disease by direct enzyme analysis of chorionic villi, N. Engl. J. Med. 311:1257.

    PubMed  CAS  Google Scholar 

  • Kleijer, W. J., Van Diggelen, O. P., Janse, H. C., Galjaard, H., Dumez, Y., and Boui, J., 1984b, First trimester diagnosis of Hunter syndrome on chorionic villi, Lancet 2:472.

    CrossRef  PubMed  CAS  Google Scholar 

  • Kleijer, W. J., Thoomes, R., Galjaard, H., Wendel, U., and Fowler, B., 1984c, First trimester (chorion biopsy) diagnosis of citrullinaemia and methylmalonicaciduria, Lancet 2:1340.

    CrossRef  PubMed  CAS  Google Scholar 

  • Kleijer, W. J., Janse, H. C., Vosters, R. P., Niermeijer, M. F., and van de Kamp, J. J., 1986, First-trimester diagnosis of mucopolysaccharidosis IIIA (Sanfillipo A disease), N. Engl. J. Med. 314:185–186.

    CrossRef  PubMed  CAS  Google Scholar 

  • Kullander, S., and Sandahl, B., 1973, Fetal chromosome analysis after transcervical placental biopsies during early pregnancy, Acta Obstet. Gynaecol. Scand. 52:355–359.

    CrossRef  CAS  Google Scholar 

  • Kvittingen, E. A., Guibaud, P. P., Divry, P., Mandon, G., Rolland, M. O., Domenich, Y., Jakobs, C., and Christen, E., 1986, Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fiimarylacetoacetase in chorionic villus material, Eur. J. Pediatr. 144:597–598.

    CrossRef  PubMed  CAS  Google Scholar 

  • Lam, S. T. S., Fensom, A. H., Coleman, D., Heaton, D., Morsman, J., Nicolaides, K., and Rodeck, C. H., 1984, Steroid sylphatase activity in trophoblast samples, J. Obstet. Gynaecol. 5:24–26.

    CrossRef  CAS  Google Scholar 

  • Landy, H. L., Weiner, S., Corson, S. L., Batzer, F. R., and Bolognese, R. J., 1986, The “vanishing twin”. Ultrasonographic assessment of disappearance in the first trimester, Am. J. Obstet. Gynecol. 155:14–19.

    PubMed  CAS  Google Scholar 

  • Lilford, R. J., Linton, G., Irving, H. C., Groves, J., Mason, M. K., Crompton, A. C., and Maxwell, D., 1987, Development and clinical application, in: Chorion Villus Sampling (E. M. Symonds and M. S. Golbus, eds.), pp. 160–171, Chapman and Hall, London.

    Google Scholar 

  • Linton, G., and Lilford, R. J., 1986, False-negative finding on chorionic villus sampling, Lancet 2:630.

    CrossRef  PubMed  CAS  Google Scholar 

  • Liu, D. T. Y., Mitchell, J., Johnson, J., and Wass, D. M., 1983, Trophoblast sampling by blind transcervical aspiration, Br. J. Obstet. Gynaecol. 90:1119–1123.

    CrossRef  PubMed  CAS  Google Scholar 

  • Lunt, P. W., Meredith, A. L., and Harper, P. S., 1986, First-trimester prediction in fetus at risk for myotonic distrophy, Lancet 2:350–351.

    CrossRef  PubMed  CAS  Google Scholar 

  • Lykkelund, C., Sondergaard, F., Therkelsen, A. J., Tonnesen, T., Rasmussen, V., Mikkelsen, M., Guttler, F., and Nyland, M. H., 1983, Feasibility of first trimester prenatal diagnosis of Hunter syndrome, Lancet 2:1147.

    CrossRef  PubMed  CAS  Google Scholar 

  • Marsh, J., and Fensom, A. H., 1985, 4-Methylumbelliferyl alpha-AT-acetylglucosaminidase activity for diagnosis of Sanfillipo B disease, Clin. Genet. 27:258–262.

    CrossRef  PubMed  CAS  Google Scholar 

  • Martin, A., Elias, S., Rosinsky, B., Bombard, A., and Simpson, J., 1986, False-negative finding on chorionic villus sampling, Lancet 2:391–392.

    Google Scholar 

  • Mikkelsen, M., 1985, Cytogenetic findings in first trimester chorionic villi biopsies: A collaborative study, in: First Trimester Fetal Diagnosis (M. Fraccaro et al., eds.), pp. 109–120, Springer-Verlag, Berlin.

    Google Scholar 

  • Mikkelsen, M., 1986, Presented at 7th International Congress of Human Genetics, Berlin.

    Google Scholar 

  • 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. 88:1081–1085.

    CrossRef  PubMed  CAS  Google Scholar 

  • Old, J. M., Ward, R. H. T., Karagozlu, F., Petrou, M., and Modell, B, 1982, First trimester fetal diagnosis for haemoglobinopathies: Three cases, Lancet 2:1413–1416.

    CrossRef  PubMed  CAS  Google Scholar 

  • Pergament, E., Ginsberg, N., Verlinsky, Y., Cadkin, A., Chu, L., and Traka, L., 1983, Prenatal Tay-Sachs diagnosis by chorionic villi sampling, Lancet 2:286–287.

    CrossRef  Google Scholar 

  • Poenaru, L., Castelnau, L., Dumez, Y., and Thepot, F., 1984a, First trimester prenatal diagnosis of mucolipidosis II (I-cell disease) by choiotic biopsy, Am. J. Hum. Genet. 36:1379–1385.

    PubMed  CAS  Google Scholar 

  • Poenaru, L., Kaplan, L., Dumez, Y., and Dreyfuss, J. C., 1984b, Evaluation of possible first trimester prenatal diagnosis in lysosomal diseases by trophoblast biopsy, Pediatr. Res. 18:1032–1034.

    PubMed  CAS  Google Scholar 

  • Poenaru, L., Castelnau, L., Choiset, A., Rouquet, Y., and Thepot, F., 1985, Lysosomal hydrolase activity in chorionic villi and embryonic cells in culture, Hum. Genet. 69:378–379.

    CrossRef  PubMed  CAS  Google Scholar 

  • Reeders, S. T., Zerres, K., Gal, A., Hogenkamp, T., Propping, P., Schmidt, W., Waldherr, R., Dolata, M. M., Davies, K. E., and Weatherall, D. J., 1986, Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe, Lancet 2:6–8.

    CrossRef  PubMed  CAS  Google Scholar 

  • Rhine, S. A., and Milunsky, A., 1979, Utilization of trophoblast for early prenatal diagnosis, in: Genetic Disorders and the Fetus (A. Milunsky, ed.), pp. 536–537, Plenum Press, New York.

    Google Scholar 

  • Rhine, S. A., Cain, J. L., Cleary, R. E., Palmer, C. G., and Thompson, J. F., 1975, Prenatal sex detection with endocervical smears: Successful results using Y body fluorescence, Am. J. Obstet. Gynecol. 122:155–160.

    PubMed  CAS  Google Scholar 

  • Rhine, S. A., Palmer, C. G., and Thompson, J. F., 1977, A simple first trimester alternative to amniocentesis for prenatal diagnosis, Birth Defects Orig. Art. Ser. 12:(3D):231–247.

    Google Scholar 

  • Rodeck, C. H., Morsman, J. M., Gosden, C. M., and Gosden, J. R., 1983, Development of an improved technique for first-trimester microsampling of chorion, Br. J. Obstet. Gynaecol. 90:1113–1118.

    CrossRef  PubMed  CAS  Google Scholar 

  • Rosatelli, C., Falchi, A. M., Tuveri, T., Scalas, M. T., Di Tucci, A., Monni, G., and Cao, A., 1985, Prenatal diagnosis of beta-thalassemia with the synthetic-oligomer technique, Lancet 1:241–243.

    CrossRef  PubMed  CAS  Google Scholar 

  • Schutgens, R. B. H., Heymans, H. S. A., Wanders, R. J. A., Bosch, H. V. D., and Schrakamp, G., 1984, Prenatal detection of Zellweger syndrome, Lancet 2:1339–1340.

    CrossRef  PubMed  CAS  Google Scholar 

  • Simoni, G., 1984, The cytogenetics of first trimester fetal diagnosis, International Symposium on First Trimester Fetal Diagnosis, Rapallo.

    Google Scholar 

  • Simoni, G., Brambati, B., Danesino, C., Rossella, F., Terzoli, G. L., Ferrari, M., and Fraccaro, M., 1983, Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy, Hum. Genet. 63:349–357.

    CrossRef  PubMed  CAS  Google Scholar 

  • Simoni, G., Brambati, B., Danesino, C., Terzoli, G. L., Romitti, L., Rosella, F., and Fraccaro, M., 1984, Diagnostic application of first trimester trophoblast sampling in 100 pregnancies, Hum. Genet. 66:252–259.

    CrossRef  PubMed  CAS  Google Scholar 

  • Smidt-Jensen, S., and Hahnemann, N., 1984, Transabdominal fine needle biopsy from chorionic villi in the first trimester, Prenat. Diagn. 4:163–169.

    CrossRef  PubMed  CAS  Google Scholar 

  • Smidt-Jensen, S., and Hahnemann, N., 1987, Danish experience, in: Chorion Villus Sampling (E. M. Symonds and M. S. Golbus, eds.), pp. 145–159, Chapman and Hall, London.

    Google Scholar 

  • Sweetman, F. R., Gibson, K. M., Sweetman, L., Nyhan, W. L., Chin, H., Swartz, W., and Jones, O. W., 1986, Activity of biotin-dependent and GAB A metabolizing enzymes in chorionic villus samples: Potential for first trimester prenatal diagnosis, Prenat. Diagn. 6:187–194.

    CrossRef  PubMed  CAS  Google Scholar 

  • Tonnesen, T., Sondergaard, F., Guttler, F., Oberle, I., Moisan, J. P., Mandel, J. L., Hauge, M., and Damsgaard, E. M., 1984a, Exclusion of haemophilia B in male fetus by chorionic villus biopsy, Lancet 2:932.

    CrossRef  PubMed  CAS  Google Scholar 

  • Tonnesen, T., Sondergaard, F., Mikkelsen, M., Davies, K. E., Old, J., Winter, R. M., and Hauge, M., 1984b, X-chromosome-specific probe DX13 for carrier detection and first trimester prenatal diagnosis in haemophilia A, Lancet 2:1269–1270.

    Google Scholar 

  • Tonnesen, T., Horn, N., Sondergaard, F., Mikkelsen, M., Boué, J., Damsgaard, E., and Heydorn, K., 1985, Measurement of copper in chorionic villi for the first trimester diagnosis of Menkes‚ disease, Lancet 1:1038–1039.

    CrossRef  PubMed  CAS  Google Scholar 

  • Vimal, C. M., Fensom, A. H., Heaton, D., Ward, R. H. T., Garrod, P., and Penketh, R. J. A., 1984, Prenatal diagnosis of argininosuccinicaciduria by analysis of cultured chorionic villi, Lancet 2:521–522.

    CrossRef  PubMed  CAS  Google Scholar 

  • Wang, L. M., Zhang, J. W., Wu, G. Y., Wang, S. W., Fan, Y., Huang, Y., Zhao, L., Wang, R., Su, J., Zhang, N., Long, G., Li, Q., Zou, P., Liang, R., and Liang, Z., 1986, First-trimester prenatal diagnosis of severe alpha-thalassemia, Prenat. Diagn. 6:89–95.

    CrossRef  PubMed  CAS  Google Scholar 

  • Ward, R. H. T., Modell, B., Petrou, M., Karagozlu, F., and Douratsos, E., 1983, Method of sampling chorionic villi in first trimester of pregnancy under guidance of real time ultrasound, Br. Med. J. 286:1542.

    CrossRef  CAS  Google Scholar 

  • Warren, R. C., McKenzie, C. F., Rodeck, C. H., Moscoso, G., Brock, D. J. H., and Barrow, L., 1985, First trimester diagnosis of hypophosphatasia with a monoclonal antibody to the liver/bone/kidney isoenzyme of alkaline phosphatase, Lancet 2:856–858.

    CrossRef  PubMed  CAS  Google Scholar 

  • Williamson, R., Eskdale, J., Coleman, D. V., Niazi, M., Loeffler, F. E., and Modell, B. M., 1981, Direct gene analysis of chorionic villi: A possible technique for first trimester antenatal diagnosis of haemoglobinopathies, Lancet 2:1125–1127.

    CrossRef  PubMed  CAS  Google Scholar 

  • Wilson, R. D., Kendrick, V., Wittmann, B. K., and McGillivray, B. C., 1984, Risk of spontaneous abortion in ultrasonically normal pregnancies, Lancet 2:920–921.

    CrossRef  PubMed  CAS  Google Scholar 

  • Wynn, R. M., 1975, Development and ultrastructural adaptions of the human placenta, Eur. J. Gynaecol. Reprod. Biol. 5:3–21.

    CrossRef  CAS  Google Scholar 

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Authors and Affiliations

  1. Reproductive Genetics Unit, Department of Obstetrics and Gynecology, University of California, San Francisco, 94143, San Francisco, California, USA

    James D. Goldberg & Mitchell S. Golbus

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  1. James D. Goldberg
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  2. Mitchell S. Golbus
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Editors and Affiliations

  1. University of Pennsylvania, Philadelphia, USA

    Harry Harris (Harnwell Professor of Human Genetics) (Harnwell Professor of Human Genetics)

  2. Mount Sinai School of Medicine of The City University of New York, USA

    Kurt Hirschhorn (Herbert H. Lehman Professor and Chairman of Pediatrics) (Herbert H. Lehman Professor and Chairman of Pediatrics)

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© 1988 Plenum Press, New York

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Goldberg, J.D., Golbus, M.S. (1988). Chorionic Villus Sampling. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics 1. Advances in Human Genetics, vol 17. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-0987-1_1

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