Genetic Disorders and the Fetus

Aubrey Milunsky, MB.B.Ch., D.Sc., F.R.C.P., F.A.C.M.G., D.C. His Adjunct Professor of Obstetrics and Gynecology, Tufts University School of Medicine, and Founder and Co-Director, Center for Human Genetics, Cambridge, MA, USA. Jeff Milunsky, M.D. F.A.C.M.G. is Co-Director, Center for Human Genetics, and Director of Clinical Genetics, and Senior Director of Molecular Genetics, Cambridge, MA, USA.

Preface ix Acknowledgements xi List of Contributors xii 1 Genetic Counseling: Preconception, Prenatal, and Perinatal 1 Aubrey Milunsky and Jeff MMilunsky 2 Amniocentesis, Chorionic Villus Sampling, and Fetal Blood Sampling 68 Anthony O Odibo 3 Amniotic Fluid Constituents, Cell Culture, andNeural TubeDefects 98 Daniel L Van Dyke and Aubrey Milunsky 4 Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis 178 Peter A Benn 5 PrenatalDiagnosis of Sex Chromosome Abnormalities 267 Jeff M Milunsky 6 Molecular Cytogenetics and PrenatalDiagnosis 313 Stuart Schwartz 7 PrenatalDiagnosis and the Spectrumof Involvement from Fragile X Mutations 350 Randi Hagerman and Paul Hagerman 8 Prenatal Diagnosis by Microarray Analysis 366 Joris Robert Vermeesch 9 Molecular Genetics and Prenatal Diagnosis 380 Aubrey Milunsky, Clinton Baldwin, and Jeff Milunsky 10 Preimplantation Genetic Diagnosis 419 Anver Kuliev and Svetlana Rechitsky 11 Noninvasive Prenatal Screening and Diagnosis Using Cell-free Fetal DNA 453 Melissa Hill and Lyn S Chitty 12 Maternal Serum Screening for Chromosomal Abnormalities and Neural Tube Defects 483 Howard Cuckle, Eugene Pergament, and Peter Benn 13 Prenatal Diagnosis of Fetal Malformations by Ultrasound 541 Yves G Ville and Jean-Philippe Bault 14 Prenatal Diagnosis and Management of Abnormal Fetal Development in the Third Trimester of Pregnancy 599 Roland Axt-Fliedner and Aline Wolter 15 Prenatal Diagnosis by Fetal Magnetic Resonance Imaging 660 Nadine Girard and Kathia Chaumoitre 16 Prenatal Diagnosis of Skeletal Dysplasias and Connective Tissue Disorders 681 Andrea Superti-Furga and Sheila Unger 17 Prenatal Diagnosis of Cystic Fibrosis 700 Wayne W Grody 18 Prenatal Diagnosis of the Hemoglobinopathies 718 John M Old 19 Prenatal Diagnosis of Primary Immunodeficiency Diseases 755 Jennifer M Puck 20 Prenatal Diagnosis of Disorders of Lipid Metabolism 773 Steven Humphries, Sara Mole, and Bryan Winchester 21 Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies 838 Ronald J.A. Wanders 22 Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy 857 John J Hopwood 23 Disorders of Metabolism of Amino Acids and Related Compounds 877 Georgianne L Arnold and Jerry Vockley 24 Prenatal Diagnosis of Disorders of Carbohydrate Metabolism 903 Deeksha Sarihyan Bali, Stephanie Austin, and Yuan-Tsong Chen 25 Prenatal Diagnosis of Miscellaneous Biochemical Disorders 927 David S Rosenblatt and David Watkins 26 Prenatal Diagnosis of Fetal Infection 942 Yves G Ville and Marianne Leruez-Ville 27 Fetal Medical Therapy 976 Phyllis W Speiser and Aubrey Milunsky 28 Fetal Surgery 989 Benjamin AKeller, Shinjiro Hirose, and Diana L Farmer 29 Induced Abortion for Genetic Indications: Techniques and Complications 1011 Lee P Shulman 30 Molecular Aspects of Placental Development 1031 Wendy P Robinson and Deborah E McFadden 31 Grief after Perinatal Loss 1048 Anette Kersting and Michaela Nagl 32 Medicolegal Aspects of Prenatal Diagnosis 1063 Ellen Wright Clayton 33 Prenatal and Preimplantation Diagnosis: International Policy Perspectives 1091 Minh Thu Minh Nguyen and Bartha Maria Knoppers 34 Ethical Issues in the Diagnosis and Management of Genetic Disorders in the Fetus 1106 Frank A Chervenak and Laurence B McCullough Index 1131