First Trimester Fetal Diagnosis: Principles and Potential Pitfalls in Enzymatic and Molecular Diagnoses

  • J. D. Goldberg
  • G. A. Grabowski
  • M. C. Driscoll
  • R. E. Gordon
  • R. L. Berkowitz
  • R. J. Desnick


The ability to obtain and analyze chorionic villi (CV) in the first trimester of pregnancy represents a major advance in the prenatal diagnosis of inherited metabolic diseases. CV, which are derived from the trophoblastic layer of the developing blastocyst, are presumed to accurately reflect the genetic status of the embryo and can be sampled as early as 8–9 menstrual weeks. Adequate fetal tissue (~10–100 mg) can be obtained by ultrasonically guided transcervical aspiration or direct biopsy for cytogenetic, biochemical, and DNA alanyses, thus avoiding time-consuming specimen cultures. In contrast to second trimester amniocentesis, a major advantage of chorionic villi sampling (CVS) is that diagnoses can be made in the first trimester of pregnancy. Thus, the psychologically stressful period of waiting for results is shortened, and if the fetus is affected, the parents can choose first trimester termination, which has significantly lower maternal morbidity and mortality rates than second trimester techniques.


Prenatal Diagnosis Chorionic Villus Lysosomal Storage Disease Metachromatic Leukodystrophy Chorionic Villus Sampling 
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Copyright information

© Springer-Verlag Berlin Heidelberg 1985

Authors and Affiliations

  • J. D. Goldberg
    • 1
    • 2
  • G. A. Grabowski
    • 1
  • M. C. Driscoll
    • 1
  • R. E. Gordon
    • 3
  • R. L. Berkowitz
    • 2
  • R. J. Desnick
    • 1
  1. 1.Division of Medical Genetics, Department of PediatricsMount Sinai School of MedicineNew YorkUSA
  2. 2.Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive SciencesMount Sinai School of MedicineNew YorkUSA
  3. 3.Department of PathologyMount Sinai School of MedicineNew YorkUSA

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