Early Diagnosis and Prevention of Genetic Disease

  • H. Galjaard
Part of the Topics in the Neurosciences book series (TNSC, volume 6)


In chapter 1 the Hagberg’s conclude that out of four major neurodevelopmental impairments cerebral palsy is most closely related to negative perinatal events. Yet, genetic factors and disturbances during organogenesis and in later pregnancy have also been mentioned as a possible etiology (1). These observations need not be contradictory since many perinatal events have their origin during the prenatal period; also disturbances during embryonic development may be caused by genetic or environmental factors alone or by a combination of both. Studies on the (genetic) etiology of cerebral palsy (CP) are, however, especially difficult because it represents a rather heterogeneous group of chronic neurological conditions rather than a well defined clinical syndrome (2).


Genetic Counseling Cerebral Palsy Down Syndrome Prenatal Diagnosis Handicapped Child 
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  1. 1.
    Stanley F (1984): Prenatal risk factors in the study of the cerebral palsies. In The epidemiology of the cerebral palsies. Stanley, F and Alberman, E (eds), pp 87–97. Series Clinics in Developmental Medicine No 87. Spastics Int Med Publ Blackwells, Oxford and Lippincott, PhiladelphiaGoogle Scholar
  2. 2.
    Gordon N (1976): Paediatric Neurology for the Clinician. Clinics in Developmental Medicine No 59/60, pp 134–153. Spastics Int Med Publ W Heinemann, London and Lippincott, PhiladelphiaGoogle Scholar
  3. 3.
    Bobrow M (1986): The possible role of genetic factors in cerebral palsy. Unpublished lecture International Conference “Ideas in Cerebral Palsy” organized by the Spastics Society Athens and the ICPS, Athens, April 1986Google Scholar
  4. 4.
    Gustavson KH, Hagberg B and Sanner C (1969): Identical syndromes of cerebral palsy in the same family. Acta Paed Scand 58, 330–340CrossRefGoogle Scholar
  5. 5.
    Illingworth RS (1979): Why blame the obstetrician? A review. Brit Med J 1, 797–801PubMedCrossRefGoogle Scholar
  6. 6.
    Carter CO (1976): Genetics of common single malformations. Brit Med Bull 32, 21–26PubMedGoogle Scholar
  7. 7.
    Drillien CM (1968): Studies in mental handicap. Arch Dis Childh 43, 285–291CrossRefGoogle Scholar
  8. 8.
    Barraitser M and Winter R (1983): A colour atlas of clinical genetics. Wolfe Medical Publ LondonGoogle Scholar
  9. 9.
    Mc.Kusick VA (1983): Mendelian inheritance in man. 6th ed The Johns Hopkins University Press, BaltimoreGoogle Scholar
  10. 10.
    Galjaard H (1980): Genetic metabolic diseases; early diagnosis and prenatal analysis. Elsevier/North Holland, Amsterdam/N YorkGoogle Scholar
  11. 11.
    Stanbury JB, Wijngaarden JB, Frederickson DS, Goldstein JL and Brown NS (1983): The metabolic basis of inherited disease. 5th ed McGraw-Hill, N YorkGoogle Scholar
  12. 12.
    Hers HG and Van Hoof F (1973): Lysosomes and storage diseases. Acad Press, N YorkGoogle Scholar
  13. 13.
    Dingle JT, Dean RT and Sly W (eds) (1984): Lysosomes in biology and pathology. Vol 7 Elsevier, Amsterdam/N.YorkGoogle Scholar
  14. 14.
    Barranger JA and Brady RO (eds) (1984): Molecular basis of lysosomal storage disorders. Acad Press, N YorkGoogle Scholar
  15. 15.
    Kornfeld S (1986): Trafficking of lysosomal enzymes in normal and disease states. J. Clin Invest 77, 1–6PubMedCrossRefGoogle Scholar
  16. 16.
    Williamson R (ed) (1981–1984): Genetics engineering. Vol. 1–4, Acad Press, N YorkGoogle Scholar
  17. 17.
    Walker JM (ed) (1984): Methods in molecular biology. Vol. 2 Nucleid acids. Humana Press, Clifton (NY)Google Scholar
  18. 18.
    Grouchy J de et Turleau C (1977): Atlas de maladies chromosomiques, Exp Scient Franc ParisGoogle Scholar
  19. 19.
    Hook EB and Porter IH (1977): Population cytogenetics, Acad Press, N YorkGoogle Scholar
  20. 20.
    International System for Human Cytogenetic Nomenclature (1985), Report of the Standing Committee, Cytogenetics and Cell Genetics, special issue, Karger BaselGoogle Scholar
  21. 21.
    Schwarz, DC and Cantor CR (1984): Separation of yeast chromosome-sized DNA’s by pulse field gradient electrophoresis, Cell 37, 67–75CrossRefGoogle Scholar
  22. 22.
    Sachs ES, Jahoda MGJ, Van Hemel JO, Hoogeboom JAJM and Sandkuijl LA (1985): Chromosome studies of 500 couples with two or more abortions, Obstetrics & Gynecology 65, 375–378Google Scholar
  23. 23.
    Hook EB (1981): Rates of chromosome abnormalities at different material ages, Obstetrics & Gynecology 58, 282Google Scholar
  24. 24.
    Bremer HJ, Duran M, Kamerling JP, Przyrembel H and Wadman SK (1981): Disturbances of aminoacid metabolism: clinical chemistry and diagnosis, Urban & Schwarzenberg, BaltimoreGoogle Scholar
  25. 25.
    Goodman SI and Markey SP (1981): Diagnosis of Organic Acidemias by gas chromatography - mass spectrometry, Alan Liss, N YorkGoogle Scholar
  26. 26.
    Kaback MM (ed) (1977): Tay-Sachs disease, screening and prevention, Alan Liss, N.YorkGoogle Scholar
  27. 27.
    WHO reports on the Comments Control of Hereditary Anemias (1983 a,b), WHO GenevaGoogle Scholar
  28. 28.
    Kuliev A, Modell B and Galjaard H (1985): Perspectives in fetal diagnosis of congenital disorders, WHO/Serono Symposium, Serono Symp Reviews, RomeGoogle Scholar
  29. 29.
    Emery AEH and Rimoin DL (1983): Principles and practice of medical genetics, Vols 1 and 2, Churchill Livingstone, EdingburghGoogle Scholar
  30. 30.
    Bickel H and Guthrie R and Hammersen G (eds) (1980): Neonatal screening for inborn errors of metabolism, Springer, BerlinGoogle Scholar
  31. 31.
    Harper PS (1984): Practical Genetic Counseling, 2nd ed Wright, BristolGoogle Scholar
  32. 32.
    Kaback MM, Zippen D, Boyd P and Cantor R (1984): Reproductive behaviour of families with CF children In: Cystic fibrosis: horizons. D Lawson (ed), pp 15–28, J WileyGoogle Scholar
  33. 33.
    Bennett MJ and Campbell S (eds) (1980): Real-time ultrasound in obstetrics, OxfordGoogle Scholar
  34. 34.
    Milunsky A, Gluck L and Friedman E (eds) (1981): Advances in perinatal medicine. Plenum, N YorkGoogle Scholar
  35. 35.
    Milunsky A (ed) (1979): Genetic disorders and the fetus, Plenum Press, N YorkGoogle Scholar
  36. 36.
    Tabor A, Madsen M. Obel EB, Philip J, Bang J, Norgaard-Pedersen B (1986): Randomized controlled trial of genetic amniocentesis in 4606 low-risk women, Lancet, i 1287–1292CrossRefGoogle Scholar
  37. 37.
    Fraccaro M, Simoni G and Brambati B (eds) (1985): First trimester fetal diagnosis. Springer, Berlin/N YorkGoogle Scholar
  38. 38.
    Galjaard H and Kleijer WJ (1985): Biochemical analysis of chorionic villi. In: Chorionic villus biopsy: fetal diagnosis of genetic diseases in the first trimester. Brambati B, Simoni G and Fabro S (eds), pp 131–152, Marcel Dekker Inc, N YorkGoogle Scholar
  39. 39.
    Jahoda MGJ, Vosters RPL, Sachs ES and Galjaard H (1985): Safety of chorionic villus sampling, Lancet ii 941–942CrossRefGoogle Scholar
  40. 40.
    Bakker F, Hofker MH, Goor N, Mandel JL, Davies KE et al. (1985): Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLP’s, Lancet i 655–658CrossRefGoogle Scholar
  41. 41.
    Weatherall DJ (1985): The new genetics and clinical practice, 2nd ed The Nuffield Provincial Hosp Trust, LondonGoogle Scholar
  42. 42.
    Prechtl HFR and others (1985): Ultrasound studies of human fetal behaviour. Special issue of early human development, Vol 12 Nr 2, pp 91–209Google Scholar

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© Martinus Nijhoff Publishers, Dordrecht. 1987

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  • H. Galjaard

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