Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment

This 6th Edition of Genetic Disorders and the Fetus maintains it’s pre-eminence as the major repository of facts about prenatal diagnosis. It provides a critical analysis and synthesis of established and new knowledge based on the long experience of authorities in their respective fields. A broad international perspective is presented through authoritative contributions from authors in 11 countries. All chapters and guidelines have been updated to reflect contemporary practice. New chapters have been introduced on:

The use of chromosomal microarrays in prenatal diagnosis
The social, legal and public policy issues with special reference to international approaches
The important peroxisomal and related fatty acid oxidation disorders
Extensive tables and clear illustrations assist in differential diagnosis, gene identification and diagnostic modes. The recognition of many new and unresolved challenges should provide inspiration for novel research initiatives. The guidance provided and the insights and perspectives of these authors make this volume a valuable and indispensable resource for all whose focus is securing fetal health through prenatal diagnosis.

Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment is an essential resource for all engaged in prenatal genetic diagnosis, especially obstetricians, maternal-fetal medicine specialists, medical geneticists, genetic counsellors, and pediatricians, but also many other specialties.


1. Genetic Counseling: Preconception, Prenatal, and Perinatal.
2. Amniocentesis and Fetal Blood Sampling.

3. Amniotic Fluid.

4. Amniotic Fluid Cell Culture.

5. Prenatal Genetic Diagnosis through Chorionic Villus Sampling.

6. Prenatal Diagnosis of Chromosomal Abnormalities through Amniocentesis.

7. Prenatal Diagnosis of Sex Chromosome Abnormalities.

8. Molecular Cytogenetics and Prenatal Diagnosis.

9. Prenatal Diagnosis of the Fragile X Syndrome.

10. Prenatal Diagnosis by Microarray Analysis.

11. Molecular Genetics and Prenatal Diagnosis.

12. Prenatal Diagnosis of Disorders of Lipid Metabolism.

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13. Prenatal Diagnosis of Peroxisomal and Related Fatty Acid Oxidation Disorders.

14. Prenatal Diagnosis of the Mucopolysaccaridoses and Postnatal Enzyme Replacement Therapy.

15. Disorders of the Metabolism of Amino Acids and Related Compounds.

16. Prenatal Diagnosis of Disorders of Carbohydrate Metabolism.

17. Prenatal Diagnosis of Cystic Fibrosis.

18. Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia.

19. Prenatal Diagnosis of Miscellaneous Biochemical Disorders.

20. Prenatal Diagnosis of Primary Immunodeficiency Diseases.

21. Prenatal Diagnosis of the Hemoglobinopathies.

22. Prenatal Diagnosis of Connective Tissue Disorders.

23. Maternal Serum Screening for Neural Tube and Other Defects.

24. Multimarker Maternal Serum Screening for Chromosomal Abnormalities.

25. Prenatal Diagnosis of Fetal Malformations by Ultrasound.

26. Prenatal Diagnosis and Management of Abnormal Fetal Development in the Third Trimester of Pregnancy.

27. Prenatal Diagnosis by Fetal Magnetic Resonance Imaging.

28. Induced Abortion for Genetic Indications: Techniques and Complications.

29. Preimplantation Genetic Diagnosis.

30. Prenatal Diagnosis through the Analysis of Fetal Cells and Cell-Free Nucleic Acids in the Maternal Circulation.

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31. Fetal Therapy.

32. Prenatal Diagnosis of Fetal Infection.

33. Medicolegal Aspects of Prenatal Diagnosis.

34 Social, Legal and Public Policy Issues in Prenatal Genetic Diagnosis.

35. Ethical Issues in the Diagnosis and Management of Genetic Disorders in the Fetus


Aubrey Milunsky, MB.B.Ch., D.Sc., F.R.C.P., F.A.C.M.G., D.C.H.
Professor of Human Genetics, Pediatrics, Pathology, and Obstetrics and Gynecology and Director, Center for Human Genetics
Boston University School of Medicine
Boston, Massachusetts, USA

and


Jeff M. Milunsky, M.D., F.A.C.M.G.
Professor of Pediatrics and Genetics and Genomics
Associate Director,
Director, Clinical Genetics
Associate Director, Molecular Genetics
Center for Human Genetics
Boston University School of Medicine
Boston, Massachusetts, USA