Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment / Edition 6

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Highly Commended in the Obstetrics and Gynaecology category ofthe 2010 BMA Medical Book Competition

Brand new edition of the world's leading text on prenataldiagnosis

This 6th Edition of Genetic Disorders and theFetus maintains it's pre-eminence as the major repository offacts about prenatal diagnosis. It provides a critical analysis andsynthesis of established and new knowledge based on the longexperience of authorities in their respective fields. A broadinternational perspective is presented through authoritativecontributions from authors in 11 countries. All chapters andguidelines have been updated to reflect contemporary practice. Newchapters have been introduced on:

  • The use of chromosomal microarrays in prenatal diagnosis
  • The social, legal and public policy issues with specialreference to international approaches
  • The important peroxisomal and related fatty acid oxidationdisorders

Extensive tables and clear illustrations assist in differentialdiagnosis, gene identification and diagnostic modes. Therecognition of many new and unresolved challenges should provideinspiration for novel research initiatives. The guidance providedand the insights and perspectives of these authors make this volumea valuable and indispensable resource for all whose focus issecuring fetal health through prenatal diagnosis.

Genetic Disorders and the Fetus: Diagnosis, Prevention andTreatment is an essential resource for all engaged in prenatalgenetic diagnosis, especially obstetricians, maternal-fetalmedicine specialists, medical geneticists, genetic counsellors, andpediatricians, but also many other specialties.

"Discusses the biology & diagnosis of different heritable disorders, the techniques of diagnosis, the options, & the medicolegal & ethical issues surrounding prenatal diagnosis."

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Editorial Reviews

From the Publisher
"Genetic Disorders and the Fetus: Diagnosis, Prevention, andTreatment gives exemplary treatment to the topics advertised on thecover. . . Instead, it will serve as a valuable resource in cleanerlocales - in the office while analyzing the prenatal workup of afetus about to be examined or while trying to understand theclinical discussion at maternal-fetal medicine conferences."(Pediatric & Developmental Pathology, 2011)
The second edition (1986) of this highly-regarded, comprehensive text-reference highlighted maternal serum screening for neural tube defects, which had become, at that time, a standard of expected care. Rapid and continuing advances in molecular genetics dominate the latest developmental phase in prenatal diagnosis, and this revised and updated edition presents extensive critical discussion of the current and expected state of the art in prenatal genetic diagnosis. Genetic counseling prerequisites, with emphasis on the preconception period, are emphasized, together with new insights arising from recent discoveries. Includes some 5,400 references. Annotation c. Book News, Inc., Portland, OR (
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Product Details

  • ISBN-13: 9781405190879
  • Publisher: Wiley
  • Publication date: 1/26/2010
  • Edition number: 6
  • Pages: 1184
  • Sales rank: 939,036
  • Product dimensions: 7.40 (w) x 10.00 (h) x 2.40 (d)

Meet the Author

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 Obstetricsand Gynecology and Director, Center for Human Genetics
Boston University School of Medicine
Boston, Massachusetts, USA

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

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Table of Contents



List of Contributors.

1 Genetic Counseling: Preconception, Prenatal and Perinatal(Aubrey Milunsky and Jeff M. Milunsky).

2 Amniocentesis and Fetal Blood Sampling (ShermanElias).

3 Amniotic Fluid (Aubrey Milunsky).

4 Amniotic Fluid Cell Culture (Daniel L. van Dyke).

5 Prenatal Genetic Diagnosis through Chorionic Villus Sampling(Giovanni Monni, Rosa Maria Ibba and Maria AngelicaZoppi).

6 Prenatal Diagnosis of Chromosomal Abnormalities throughAmniocentesis (Peter A. Benn).

7 Prenatal Diagnosis of Sex Chromosome Abnormalities (Jeff M.Milunsky).

8 Molecular Cytogenetics and Prenatal Diagnosis (StuartSchwartz).

9 Prenatal Diagnosis and the Spectrum of Involvement fromFragile X Mutations (Randi Hagerman, Vivien Narcisa and PaulHagerman).

10 Prenatal Diagnosis by Microarray Analysis (Joris RobertVermeesch).

11 Molecular Genetics and Prenatal Diagnosis (John A.Phillips III).

12 Prenatal Diagnosis of Disorders of Lipid Metabolism (BryanG. Winchester).

13 Prenatal Diagnosis of the Peroxisomal and Mitochondrial FattyAcid Oxidation Defi ciencies (Ronald J.A. Wanders).

14 Prenatal Diagnosis of the Mucopolysaccharidoses and PostnatalEnzyme Replacement Therapy (John J. Hopwood).

15 Disorders of the Metabolism of Amino Acids and RelatedCompounds (Vivian E. Shih and Roseann Mandell).

16 Prenatal Diagnosis of Disorders of Carbohydrate Metabolism(Yuan-Tsong Chen and Deeksha S. Bali).

17 Prenatal Diagnosis of Cystic Fibrosis (Gerald L. Feldmanand Kristin G. Monaghan).

18 Prenatal Diagnosis and Treatment of Congenital AdrenalHyperplasia (Phyllis W. Speiser).

19 Prenatal Diagnosis of Miscellaneous Biochemical Disorders(David S. Rosenblatt and David Watkins).

20 Prenatal Diagnosis of Primary Immunodefi ciency Diseases(Jennifer M. Puck).

21 Prenatal Diagnosis of the Hemoglobinopathies (John M.Old).

22 Prenatal Diagnosis of Disorders of Bone and Connective Tissue(Andrea Superti-Furga and Sheila Unger).

23 Maternal Serum Screening for Neural Tube and Other Defects(Aubrey Milunsky and Jacob A. Canick).

24 Multi-Marker Maternal Serum Screening for ChromosomalAbnormalities (Howard S. Cuckle and Peter A. Benn).

25 Prenatal Diagnosis of Fetal Malformations by Ultrasound(Yves G. Ville and Durata Nowakowska).

26 Prenatal Diagnosis and Management of Abnormal FetalDevelopment with Emphasis on the Third Trimester of Pregnancy(Juriy W. Wladimiroff and Titia E. Cohen-Overbeek).

27 Prenatal Diagnosis by Fetal Magnetic Resonance Imaging(Nadine Girard and Kathia Chaumoitre).

28 Induced Abortion for Genetic Indications: Techniques andComplications (Lee P. Shulman).

29 Preimplantation Genetic Diagnosis (Yury Verlinsky* andAnver Kuliev).

30 Prenatal Diagnosis through Analysis of Intact Fetal Cells andCell-Free Nucleic Acids in the

Maternal Circulation (Diana W. Bianchi and Y.M. DennisLo).

31 Fetal Therapy (Diana L. Farmer, Hammin Lee, ElizabethGress, Aubrey Milunsky and Michael R. Harrison).

32 Prenatal Diagnosis of Fetal Infection (Yves Ville andGuillaume Benoist).

33 Medicolegal Aspects of Prenatal Diagnosis (Ellen WrightClayton and Mary Z. Pelias).

34 Prenatal and Preimplantation Diagnosis: International PolicyPerspectives (Bartha Maria Knoppers and Thu MinhNguyen).

35 Ethical Issues in the Diagnosis and Management of GeneticDisorders in the Fetus (Frank A. Chervenak and Laurence B.McCullough).

Appendix, Prenatal Diagnosis of Additional Miscellaneous GeneticDisorders (Aubrey Milunsky).


Color plate.

* Deceased.

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