Genetic Disorders and the Fetus

Aubrey Milunsky 지음

Wiley-Blackwell 2011년 09월 07일 출간

작품소개

책소개

Highly Commended in the Obstetrics and Gynaecology category of the 2010 BMA Medical Book CompetitionBrand new edition of the world's leading text on prenatal diagnosisThis 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 diagnosisThe social, legal and public policy issues with special reference to international approachesThe important peroxisomal and related fatty acid oxidation disordersExtensive 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.

목차

Preface.Acknowledgments.List of Contributors.1 Genetic Counseling: Preconception, Prenatal and Perinatal (Aubrey Milunsky and Jeff M. Milunsky).2 Amniocentesis and Fetal Blood Sampling (Sherman Elias).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 Angelica Zoppi).6 Prenatal Diagnosis of Chromosomal Abnormalities through Amniocentesis (Peter A. Benn).7 Prenatal Diagnosis of Sex Chromosome Abnormalities (Jeff M. Milunsky).8 Molecular Cytogenetics and Prenatal Diagnosis (Stuart Schwartz).9 Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations (Randi Hagerman, Vivien Narcisa and Paul Hagerman).10 Prenatal Diagnosis by Microarray Analysis (Joris Robert Vermeesch).11 Molecular Genetics and Prenatal Diagnosis (John A. Phillips III).12 Prenatal Diagnosis of Disorders of Lipid Metabolism (Bryan G. Winchester).13 Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Defi ciencies (Ronald J.A. Wanders).14 Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy (John J. Hopwood).15 Disorders of the Metabolism of Amino Acids and Related Compounds (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. Feldman and Kristin G. Monaghan).18 Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia (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

출판사 서평

"Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment gives exemplary treatment to the topics advertised on the cover. . . Instead, it will serve as a valuable resource in cleaner locales - in the office while analyzing the prenatal workup of a fetus about to be examined or while trying to understand the clinical discussion at maternal-fetal medicine conferences." (Pediatric Developmental Pathology, 2011)&

작가정보

저자(글) Aubrey Milunsky

저자 :

저자 :

저자 :

저자 :

저자 :
저자 :
저자 :
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 GeneticsBoston University School of MedicineBoston, Massachusetts, USAJeff M. Milunsky, M.D., F.A.C.M.G.Professor of Pediatrics and Genetics and GenomicsAssociate Director,Director, Clinical GeneticsAssociate Director, Molecular GeneticsCenter for Human GeneticsBoston University School of MedicineBoston, Massachusetts, USA