Advertisement

Fetoscopy and Fetal Blood Sampling

  • Maurice J. Mahoney
  • John C. Hobbins

Abstract

Exciting successes in fetal diagnostic medicine have resulted from the study of amniotic fluid and its cells during the past decade. These studies have accomplished extensive definition of the fetus, including its karyotype, the presence or absence of many inborn errors of metabolism, and the diagnosis of several developmental anomalies. However, inasmuch as amniocentesis and the study of amniotic cells have given us a window to the fetus, they have also emphasized the limitations of that view. Amniotic fluid and amniotic cells reveal only limited information about the genetic and metabolic status of the fetus and even less about fetal morphology. For example, diseases characterized by enzyme or other protein abnormalities in liver, muscle, endocrine glands, or blood cells often cannot be diagnosed from amniotic fluid studies available today. Also, modern imaging techniques, using X rays or sound waves, still cannot clearly define many major anatomical abnormalities.

Keywords

Sickle Cell Anemia Amniotic Fluid Prenatal Diagnosis Chronic Granulomatous Disease Fetal Blood 
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.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Alter, B. P., and Nathan, D. G., 1978, Antenatal diagnosis of haematological diseases, Clin. Haematol. 7:195.PubMedGoogle Scholar
  2. Alter, B. P., Friedman, S., Hobbins, J. C., et al., 1976a, Prenatal diagnosis of sickle-cell anemia and alpha G-Philadelphia: Study of a fetus also at risk for Hb S/β +-thalassemia, N. Engl. J. Med. 294:1040.PubMedCrossRefGoogle Scholar
  3. Alter, B. P., Modell, C. B., Fairweather, D., et al., 1976b, Prenatal diagnosis of hemoglobinopathies: A review of 15 cases, N. Engl. J. Med. 295:1437.PubMedCrossRefGoogle Scholar
  4. Alter, B. P., Metzgar, J. B., Yock, P. G., et al., 1979, Selective hemolysis of adult red blood cells: An aid to prenatal diagnosis of hemoglobinathies. Blood 53:279.PubMedGoogle Scholar
  5. Bäsch, R. S., 1972, Hemoglobin synthesis in short-term cultures of human fetal hematopoietic tissues. Blood 39:530.PubMedGoogle Scholar
  6. Benzie, R. J., 1977, Fetoscopy,Birth Defects: Orig. Art. Ser. 13(3D):181.Google Scholar
  7. Benzie, R. J., 1978, Presented at Workshop on Prenatal Approaches to the Diagnosis of Fetal Hemoglobinopathies, Los Angeles, February.SGoogle Scholar
  8. Benzie, R. J., and Doran, T. A., 1975, The “fetoscope”—A new clinical tool for prenatal genetic diagnosis. Am. J. Obstet. Gynecol. 121:460.PubMedGoogle Scholar
  9. Boyer, S. H., Noyes, A. N., and Boyer, M. L., 1976, Enrichment of erythrocytes of fetal origin from adult-fetal blood mixtures via selective hemolysis of adult blood cells: An aid to antenatal diagnosis of hemoglobinopathies, Blood 47:883.PubMedGoogle Scholar
  10. Dozy, A. M., Forman, E. N., Abuelo, D. N., et al., 1979, Prenatal diagnosis of homozygous a- thalassemia, J. Am. Med. Assoc. 241:26110.CrossRefGoogle Scholar
  11. Emery, A. E. H., 1970, An overview of problems arising from amniocentesis (discussion). Fogarty Proc. 6:31.Google Scholar
  12. Fairweather, D. V. I., and Modell, C. B., 1978, Presented at Workshop on Prenatal Approaches to the Diagnosis of Fetal Hemoglobinapthies, Los Angeles, February. SGoogle Scholar
  13. Fairweather, D. V. L, Modell, B., Berdoukas, V., et al., 1978, Antenatal diagnosis of thalassaemia major, Br. Med. J. 1:350.PubMedCrossRefGoogle Scholar
  14. Faulkner, A., and Jones, C. T., 1975, Pyruvate kinase isoenzymes in tissues of the human fetus, FEBS Lett. 53:167.PubMedCrossRefGoogle Scholar
  15. Firshein, S. I., Hoyer, L. W., Lazarchick, J., et al., 1979, Prenatal diagnosis of classic hemophilia, N. Engl. J. Med. 300:937.PubMedCrossRefGoogle Scholar
  16. Golbus, M. S., and Kan, Y. W., 1978, Presented at Workshop on Prenatal Approaches to the Diagnosis of Fetal Hemoglobinopathies, Los Angeles, February. SGoogle Scholar
  17. Hobbins, J. C., and Mahoney, M. J., 1974, In utero diagnosis of hemoglobinopathies. Technic for obtaining fetal blood, N. Engl. J. Med. 290:1065.PubMedCrossRefGoogle Scholar
  18. Hobbins, J. C., and Mahoney, M. J., 1975, Fetal blood drawing. Lancet 2:107.PubMedCrossRefGoogle Scholar
  19. Hobbins, J. C., and Mahoney, M. J., 1976, Fetoscopy and fetal blood sampling: The present state of the method, Clin. Obstet. Gynecol. 19:341.PubMedCrossRefGoogle Scholar
  20. Hobbins, J. C., Mahoney, M. J., Goldstein, L. A., 1974, New method of intrauterine evaluation by the combined use of fetoscopy and ultrasound, Am. J. Obstet. Gynecol. 118:1069.PubMedGoogle Scholar
  21. Hollenberg, M. D., Kaback, M. M., Kazazian, H. H., Jr., 1971, Adult hemoglobin synthesis by reticulocytes from the human fetus at midtrimester, Science 174:698.PubMedCrossRefGoogle Scholar
  22. Holmberg, L., Henriksson, P., and Ekelund, H., 1974, Coagulation in the human fetus, J. Pediatr. 85:860.PubMedCrossRefGoogle Scholar
  23. Jensen, M., Zahn, V., and Orend, K. H., 1978, Prenatal diagnosis of)8-thalassemia using selective hemolysis of maternal cells contaminating fetal blood sample, Eur. J. Pediatr. 127:197.PubMedCrossRefGoogle Scholar
  24. Kan, Y. W., and Dozy, A. M., 1978a, Antenatal diagnosis of sickle-cell anaemia by DNA analysis of amniotic-fluid cells, Lancet 2:910.PubMedGoogle Scholar
  25. Kan, Y. W., and Dozy, A. M., 1978b, Polymorphism of DNA sequence adjacent to human ß- globin structural gene: Relationship to sickle mutation, Proc. Natl. Acad. Sci. USA 75:5631.PubMedCrossRefGoogle Scholar
  26. Kan, Y. W., Dozy, A. M., Alter, B. P., et al., 1972, Detection of the sickle cell gene in the human fetus. Potential for intrauterine diagnosis of sickle-cell anemia, N. Engl. J. Med. 287:1.PubMedCrossRefGoogle Scholar
  27. Kan, Y. W., Valenti, C., Guidotti, R., et al., 1974a, Fetal blood-sampling in utero. Lancet 1:79.PubMedCrossRefGoogle Scholar
  28. Kan, Y. W., Nathan, D. G., Cividalli, G., et al., 1974b, Concentration of fetal red blood cells from a mixture of maternal and fetal blood by anti-i serum: An aid to prenatal diagnosis of hemoglobinopathies, Blood 43:411.PubMedGoogle Scholar
  29. Kan, Y. W., Golbus, M. S., and Trecartin, R., 1975, Prenatal diagnosis of homozygous ß- thalassemia. Lancet 2:790.PubMedCrossRefGoogle Scholar
  30. Kan, Y. W., Golbus, M. S., and Trecartin R., 1976a, Prenatal diagnosis of sickle cell anemia, N. Engl. J. Med. 294:1039.PubMedCrossRefGoogle Scholar
  31. Kan, Y. W., Golbus, M. S., and Dozy, A. M., 1976b, Prenatal diagnosis of β-thalassemia, N. Engl. J. Med. 295:1165.PubMedCrossRefGoogle Scholar
  32. Kan, Y. W., Trecartin, R. F., Golbus, M. S., et al., 1977, Prenatal diagnosis of jS-thalassaemia and sickle cell anemia: Experience with 24 cases. Lancet 1:269.PubMedCrossRefGoogle Scholar
  33. Laurence, K. M., Pearson, J. F., Prosser, R., et al., 1974, Fetoscopy followed by live birth, Lancet 1:1120.PubMedCrossRefGoogle Scholar
  34. Lazarchick, J. C., and Hoyer, L. W., 1977, Immunoradiometric assay for antigenic determinants closely associated with factor VIII procoagulant activity, Blood (Suppl.) 50:274.Google Scholar
  35. Levine, M. D., McNeil, D. E., Kaback, M. M., et al., 1974, Second trimester fetoscopy and fetal blood sampling: Current limitations and problems. Am. J. Obstet. Gynecol. 120:937.PubMedGoogle Scholar
  36. Mahoney, M. J., and Bobbins, J. C., 1977a, Prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) using fetoscopy and ultrasound, N. Engl. J. Med. 297:258.PubMedCrossRefGoogle Scholar
  37. Mahoney, M. J., and Bobbins, J. C., 1977b, Fetoscopy and fetal biopsy, in: Genetic Counseling (H. A. Lubs and F. de la Cruz, eds.), pp. 495–506, Raven Press, New York.Google Scholar
  38. Mahoney, M. J., and Bobbins, J. C., 1978, Presented at Workshop on Prenatal Approaches to the Diagnosis of Fetal Bemoglobinopathies, Los Angeles, February. SGoogle Scholar
  39. Mahoney, M. J., Baseltine, F. P., Bobbins, J. C., et al., 1977, Prenatal diagnosis of Duchenne’s muscular dystrophy, N. Engl. J. Med. 297:968.PubMedCrossRefGoogle Scholar
  40. Mandelbaum, B., Pontarelli, D. A., and Brushenko, A., 1967, Amnioscopy for prenatal transfusion, Am. J. Obstet. Gynecol. 98:1140.PubMedGoogle Scholar
  41. Milunsky, A., 1975, The Prevention of Genetic Disease and Mental Retardation, Saunders, Philadelphia.Google Scholar
  42. Mori, C., 1956, A study on the intrauterine self movement of early human fetus by hysteroscopy and its recording on film, Jpn. J. Obstet. Gynecol. 3:4.Google Scholar
  43. Morris, J. A., Bustead, R. F., Robinson, R. G., et al., 1974, Measurement of feto-placental blood volume in the human previable fetus. Am. J. Obstet. Gynecol. 118:927.PubMedGoogle Scholar
  44. Newburger, P. E., Cohen, B. J., Rothchild, S. B., et al., 1979, Prenatal diagnosis of chronic granulomatous disease, N. Engl. J. Med. 300:178.PubMedCrossRefGoogle Scholar
  45. Orkin, S. B., Alter, B. P., Altay, C., et al., 1978, Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin gene deletion, N. Engl. J. Med. 299:166.PubMedCrossRefGoogle Scholar
  46. Patrick, J. E., Perry, T. B., and Kinch, R. A. B., 1974, Fetoscopy and fetal blood sampling—A percutaneous approach. Am. J. Obstet. Gynecol. 119:539.PubMedGoogle Scholar
  47. Peake, I. R., and Bloom, A. I., 1978, Immunoradiometric assay of procoagulant factor VIII antigen in plasma and serum and its reduction in hemophiUa, Lancet 1:473.PubMedCrossRefGoogle Scholar
  48. Perry, T. B., 1978, Presented at Workshop on Prenatal Approaches to the Diagnosis of Fetal Bemoglobinopathies, Los Angeles, February. SGoogle Scholar
  49. Rocker, I., and Laurence, K. M., 1978, Defect in fetal membranes after fetoscopy. Lancet 1:716.PubMedCrossRefGoogle Scholar
  50. Rodeck, C. B., and Campbell, S., 1978, Early prenatal diagnosis of neural tube defects by ultrasound-guided fetoscopy. Lancet 1:1128.PubMedCrossRefGoogle Scholar
  51. Scrimgeour, J. B., 1973, Other techniques for antenatal diagnosis, in: Antenatal Diagnosis of Genetic Disease (A. E. B. Emery, ed.), pp. 49–52, Churchill Livingstone, Edinburgh.Google Scholar
  52. Spector, E. B., Kiernan, M., Bernard, B., et al., 1977, Properties of fetal and adult red blood cell arginase. Am.J. Hum. Genet. 29:102A (abstr).Google Scholar
  53. Valenti, C., 1972, Endoamnioscopy and fetal biopsy: A new technique. Am. J. Obstet. Gynecol. 114:561.PubMedGoogle Scholar
  54. Valenti, C., 1973, Antenatal detection of hemoglobinopathies. Am. J. Obstet. Gynecol. 115:851.PubMedGoogle Scholar
  55. Walker, J., and Turnbull, E. P. N., 1955, Baemoglobin and red cells in the human foetus. III. Foetal and adult haemoglobin. Arch. Dis. Child. 30:111.PubMedCrossRefGoogle Scholar
  56. Westin, B., 1954, Bysteroscopy in early pregnancy. Lancet 2:872.CrossRefGoogle Scholar
  57. Westin, B., 1957, Technique and estimation of oxygenation of the human fetus in utero by means of hystero-photography, Arch Paediatr. 46:117.Google Scholar

Copyright information

© Aubrey Milunsky 1979

Authors and Affiliations

  • Maurice J. Mahoney
    • 1
  • John C. Hobbins
    • 2
  1. 1.Department of Human GeneticsYale University School of MedicineNew HavenUSA
  2. 2.Department of Obstetrics-GynecologyYale University School of MedicineNew HavenUSA

Personalised recommendations