Genetic Disorders and 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 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

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 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 Chromosomal Abnormalities ( 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 Fetal Development 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 and Complications ( Lee P. Shulman ). 29 Preimplantation Genetic Diagnosis ( Yury Verlinsky* and Anver Kuliev ). 30 Prenatal Diagnosis through Analysis of Intact Fetal Cells and Cell-Free Nucleic Acids in the Maternal Circulation ( Diana W. Bianchi and Y.M. Dennis Lo ). 31 Fetal Therapy ( Diana L. Farmer, Hammin Lee, Elizabeth Gress, Aubrey Milunsky and Michael R. Harrison ). 32 Prenatal Diagnosis of Fetal Infection ( Yves Ville and Guillaume Benoist ). 33 Medicolegal Aspects of Prenatal Diagnosis ( Ellen Wright Clayton and Mary Z. Pelias ). 34 Prenatal and Preimplantation Diagnosis: International Policy Perspectives ( Bartha Maria Knoppers and Thu Minh Nguyen ). 35 Ethical Issues in the Diagnosis and Management of Genetic Disorders in the Fetus ( Frank A. Chervenak and Laurence B. McCullough ). Appendix, Prenatal Diagnosis of Additional Miscellaneous Genetic Disorders ( Aubrey Milunsky ). Index. Color plate. * Deceased.