First Trimester Prenatal Diagnosis of Metabolic Diseases

  • L. Poenaru
  • L. Castelnau
  • Y. Dumez
  • J. Boué
  • F. Thepot


Chorionic biopsies obtained at 6–12 weeks of gestation represent a new approach in prenatal diagnosis which enables a decision on whether to terminate a pregnancy for genetic reasons to be made by the 10th–12th week of pregnancy (Kazy et al. 1982; Kaplan et al. 1983). This method has been employed for the early prenatal determination of fetal sex (Gosden et al. 1982), diagnosis of chromosome abnormalities (Brambati and Simoni 1983), fetal DNA analysis (Kaplan et al. 1983; Gosden et al. 1982; Elles et al. 1983; Old et al. 1982; Goossens et al. 1983), and the diagnosis of enzyme defects (Kazy et al. 1982; Pergament et al. 1983; Tsvetkova et al. 1983; Poenaru et al. 1984 a).


Chorionic Villus Metachromatic Leukodystrophy Amniotic Fluid Cell Lysosomal Disease Metachromatic Leucodystrophy 
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Copyright information

© Springer-Verlag Berlin Heidelberg 1985

Authors and Affiliations

  • L. Poenaru
    • 1
  • L. Castelnau
    • 1
  • Y. Dumez
    • 2
  • J. Boué
    • 3
    • 4
  • F. Thepot
  1. 1.INSERM U 129Université de Paris V, Institut de Pathologie MoléculaireParis CEDEX 14France
  2. 2.Clinique Universitaire Port-RoyalParisFrance
  3. 3.INSERM U 73, Centre d’Etudes de biologie prénatale, Château de Long-champParisFrance
  4. 4.Laboratoire de Cytogénétique, Hôpital St. Vincent de PaulUniversité de Paris VParisFrance

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