Antenatal Diagnosis of Fetal Abnormalities

  • James O. Drife
  • Dian Donnai

Table of contents

  1. Front Matter
    Pages i-xv
  2. Epidemiology and Routine Screening

    1. Front Matter
      Pages 1-1
    2. A. F. J. Atkins, E. N. Hey
      Pages 13-34
    3. M. J. Whittle
      Pages 35-43
    4. D. J. H. Brock, M. E. Mennie, I. McIntosh, C. Jones, A. E. Shrimpton
      Pages 59-70
  3. Special Techniques: 1

    1. Front Matter
      Pages 71-71
    2. L. D. Allan
      Pages 97-111
    3. B. J. Trudinger
      Pages 113-125
  4. DNA Analysis

    1. Front Matter
      Pages 127-127
    2. M. E. Pembrey
      Pages 129-136
  5. Cytogenetic and Biochemical Disorders

    1. Front Matter
      Pages 151-151
  6. Special Techniques: 2

    1. Front Matter
      Pages 199-199
    2. K. H. Nicolaides
      Pages 201-215
    3. C. H. Rodeck, N. M. Fisk
      Pages 217-227
    4. I. R. Johnson
      Pages 229-240
  7. Counselling, Economics and Ethical Issues

    1. Front Matter
      Pages 241-241
    2. D. Donnai, L. Kerzin-Storrar
      Pages 255-267
    3. J. B. Henderson
      Pages 269-278
    4. J. Harris
      Pages 279-293
  8. Service Provision

    1. Front Matter
      Pages 295-295
    2. R. Harris
      Pages 311-319
    3. James O. Drife, Dian Donnai
      Pages 353-355
  9. Back Matter
    Pages 357-363

About this book


In few areas of medicine is progress more spectacular than in the field of prenatal diagnosis. New clinical techniques such as chorion villus sampling, detailed ultrasound scanning and cordocentesis are being evaluated by obstetricians, and refinement of biochemical testing is widening the scope of maternal serum screening. In the laboratory, dramatic advances in molecular biology are occurring: families at risk of genetic disease can be investigated with gene probes, and preimplantation diagnosis of the embryo is now becom­ ing a reality. These technical advances have important ethical and practical implications, among which will be a further increase in public expectations of the standards required of antenatal services. Clini­ cians will need a high degree of skill to inform healthy women about the options for screening normal pregnancies, and to counsel high-risk women about the benefits and limitations of prenatal diagnosis. Obstetricians, scientists and health service managers will face the difficult task of deciding how prenatal diagnosis can be made available to women in a caring and cost-effective way. Recognising the rapid progress in this field, the Royal College of Obstetricians and Gynaecologists made prenatal diagnosis the subject of its 23rd Study Group. An international panel of leading researchers, whose expertise ranged from molecular biology to philosophy, was invited to participate in a three day workshop, with time for in-depth discussion as well as the presentation of papers.


Congenital anomolies DNA DNA analysis Erbkrankheit Fetal abnormality Screening biology embryo implant implantat implantation magnetic resonance imaging (MRI) obstetrics prenatal diagnosis ultrasound

Editors and affiliations

  • James O. Drife
    • 1
  • Dian Donnai
    • 2
  1. 1.Clarendon WingLeeds General InfirmaryLeedsUK
  2. 2.Department of Medical GeneticsSt Mary’s HospitalManchesterUK

Bibliographic information