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 xiList of Contributors xii1 Genetic Counseling: Preconception, Prenatal, and Perinatal 1Aubrey Milunsky and Jeff MMilunsky2 Amniocentesis, Chorionic Villus Sampling, and Fetal Blood Sampling 68Anthony O Odibo3 Amniotic Fluid Constituents, Cell Culture, andNeural TubeDefects 98Daniel L Van Dyke and Aubrey Milunsky4 Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis 178Peter A Benn5 PrenatalDiagnosis of Sex Chromosome Abnormalities 267Jeff M Milunsky6 Molecular Cytogenetics and PrenatalDiagnosis 313Stuart Schwartz7 PrenatalDiagnosis and the Spectrumof Involvement from Fragile X Mutations 350Randi Hagerman and Paul Hagerman8 Prenatal Diagnosis by Microarray Analysis 366Joris Robert Vermeesch9 Molecular Genetics and Prenatal Diagnosis 380Aubrey Milunsky, Clinton Baldwin, and Jeff Milunsky10 Preimplantation Genetic Diagnosis 419Anver Kuliev and Svetlana Rechitsky11 Noninvasive Prenatal Screening and Diagnosis Using Cell-free Fetal DNA 453Melissa Hill and Lyn S Chitty12 Maternal Serum Screening for Chromosomal Abnormalities and Neural Tube Defects 483Howard Cuckle, Eugene Pergament, and Peter Benn13 Prenatal Diagnosis of Fetal Malformations by Ultrasound 541Yves G Ville and Jean-Philippe Bault14 Prenatal Diagnosis and Management of Abnormal Fetal Development in the Third Trimester of Pregnancy 599Roland Axt-Fliedner and Aline Wolter15 Prenatal Diagnosis by Fetal Magnetic Resonance Imaging 660Nadine Girard and Kathia Chaumoitre16 Prenatal Diagnosis of Skeletal Dysplasias and Connective Tissue Disorders 681Andrea Superti-Furga and Sheila Unger17 Prenatal Diagnosis of Cystic Fibrosis 700Wayne W Grody18 Prenatal Diagnosis of the Hemoglobinopathies 718John M Old19 Prenatal Diagnosis of Primary Immunodeficiency Diseases 755Jennifer M Puck20 Prenatal Diagnosis of Disorders of Lipid Metabolism 773Steven Humphries, Sara Mole, and Bryan Winchester21 Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies 838Ronald J.A. Wanders22 Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy 857John J Hopwood23 Disorders of Metabolism of Amino Acids and Related Compounds 877Georgianne L Arnold and Jerry Vockley24 Prenatal Diagnosis of Disorders of Carbohydrate Metabolism 903Deeksha Sarihyan Bali, Stephanie Austin, and Yuan-Tsong Chen25 Prenatal Diagnosis of Miscellaneous Biochemical Disorders 927David S Rosenblatt and David Watkins26 Prenatal Diagnosis of Fetal Infection 942Yves G Ville and Marianne Leruez-Ville27 Fetal Medical Therapy 976Phyllis W Speiser and Aubrey Milunsky28 Fetal Surgery 989Benjamin AKeller, Shinjiro Hirose, and Diana L Farmer29 Induced Abortion for Genetic Indications: Techniques and Complications 1011Lee P Shulman30 Molecular Aspects of Placental Development 1031Wendy P Robinson and Deborah E McFadden31 Grief after Perinatal Loss 1048Anette Kersting and Michaela Nagl32 Medicolegal Aspects of Prenatal Diagnosis 1063Ellen Wright Clayton33 Prenatal and Preimplantation Diagnosis: International Policy Perspectives 1091Minh Thu Minh Nguyen and Bartha Maria Knoppers34 Ethical Issues in the Diagnosis and Management of Genetic Disorders in the Fetus 1106Frank A Chervenak and Laurence B McCulloughIndex 1131

"As the previous editions, this is an incredibly useful volume. The editors have engaged multiple experts on specific topics, as well as provided the latest and most up-to-date information and discus­sions without leaving out broad topics, such as genetic counseling, medical/legal aspects, and ethical issues. Each chapter has useful figures and tables, including some lovely colored illustrations...In summary, this is a superb book, both a reference and a resource. It is clearly an essential book for anyone involved in prenatal diagnosis, and for those who want to learn more about it. It is hard to be critical of such a wonderful resource." (European Journal of Human Genetics, 2017)"The Seventh Edition of this classic text has been edited with customary care and attention devoted by the two Milunskys. It consists of 34 chapters and represents the most extensive coverage of prenatal diagnosis of genetic disorders. The first chapter on genetic counseling is excellent and should be compulsory reading for all medical geneticists...Overall, the book maintains the high standard of previous editions and represents the best source of information on prenatal diagnosis of genetic disorders. My doubts on clinical questions are often cleared by referring to this volume. The book should be on the shelf of all departments of medical genetics and fetal medicine specialists." (Journal of Fetal Medicine, 26th July 2017)

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 xiList of Contributors xii1 Genetic Counseling: Preconception, Prenatal, and Perinatal 1Aubrey Milunsky and Jeff MMilunsky2 Amniocentesis, Chorionic Villus Sampling, and Fetal Blood Sampling 68Anthony O Odibo3 Amniotic Fluid Constituents, Cell Culture, andNeural TubeDefects 98Daniel L Van Dyke and Aubrey Milunsky4 Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis 178Peter A Benn5 PrenatalDiagnosis of Sex Chromosome Abnormalities 267Jeff M Milunsky6 Molecular Cytogenetics and PrenatalDiagnosis 313Stuart Schwartz7 PrenatalDiagnosis and the Spectrumof Involvement from Fragile X Mutations 350Randi Hagerman and Paul Hagerman8 Prenatal Diagnosis by Microarray Analysis 366Joris Robert Vermeesch9 Molecular Genetics and Prenatal Diagnosis 380Aubrey Milunsky, Clinton Baldwin, and Jeff Milunsky10 Preimplantation Genetic Diagnosis 419Anver Kuliev and Svetlana Rechitsky11 Noninvasive Prenatal Screening and Diagnosis Using Cell-free Fetal DNA 453Melissa Hill and Lyn S Chitty12 Maternal Serum Screening for Chromosomal Abnormalities and Neural Tube Defects 483Howard Cuckle, Eugene Pergament, and Peter Benn13 Prenatal Diagnosis of Fetal Malformations by Ultrasound 541Yves G Ville and Jean-Philippe Bault14 Prenatal Diagnosis and Management of Abnormal Fetal Development in the Third Trimester of Pregnancy 599Roland Axt-Fliedner and Aline Wolter15 Prenatal Diagnosis by Fetal Magnetic Resonance Imaging 660Nadine Girard and Kathia Chaumoitre16 Prenatal Diagnosis of Skeletal Dysplasias and Connective Tissue Disorders 681Andrea Superti-Furga and Sheila Unger17 Prenatal Diagnosis of Cystic Fibrosis 700Wayne W Grody18 Prenatal Diagnosis of the Hemoglobinopathies 718John M Old19 Prenatal Diagnosis of Primary Immunodeficiency Diseases 755Jennifer M Puck20 Prenatal Diagnosis of Disorders of Lipid Metabolism 773Steven Humphries, Sara Mole, and Bryan Winchester21 Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies 838Ronald J.A. Wanders22 Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy 857John J Hopwood23 Disorders of Metabolism of Amino Acids and Related Compounds 877Georgianne L Arnold and Jerry Vockley24 Prenatal Diagnosis of Disorders of Carbohydrate Metabolism 903Deeksha Sarihyan Bali, Stephanie Austin, and Yuan-Tsong Chen25 Prenatal Diagnosis of Miscellaneous Biochemical Disorders 927David S Rosenblatt and David Watkins26 Prenatal Diagnosis of Fetal Infection 942Yves G Ville and Marianne Leruez-Ville27 Fetal Medical Therapy 976Phyllis W Speiser and Aubrey Milunsky28 Fetal Surgery 989Benjamin AKeller, Shinjiro Hirose, and Diana L Farmer29 Induced Abortion for Genetic Indications: Techniques and Complications 1011Lee P Shulman30 Molecular Aspects of Placental Development 1031Wendy P Robinson and Deborah E McFadden31 Grief after Perinatal Loss 1048Anette Kersting and Michaela Nagl32 Medicolegal Aspects of Prenatal Diagnosis 1063Ellen Wright Clayton33 Prenatal and Preimplantation Diagnosis: International Policy Perspectives 1091Minh Thu Minh Nguyen and Bartha Maria Knoppers34 Ethical Issues in the Diagnosis and Management of Genetic Disorders in the Fetus 1106Frank A Chervenak and Laurence B McCulloughIndex 1131

"As the previous editions, this is an incredibly useful volume. The editors have engaged multiple experts on specific topics, as well as provided the latest and most up-to-date information and discus­sions without leaving out broad topics, such as genetic counseling, medical/legal aspects, and ethical issues. Each chapter has useful figures and tables, including some lovely colored illustrations...In summary, this is a superb book, both a reference and a resource. It is clearly an essential book for anyone involved in prenatal diagnosis, and for those who want to learn more about it. It is hard to be critical of such a wonderful resource." (European Journal of Human Genetics, 2017)"The Seventh Edition of this classic text has been edited with customary care and attention devoted by the two Milunskys. It consists of 34 chapters and represents the most extensive coverage of prenatal diagnosis of genetic disorders. The first chapter on genetic counseling is excellent and should be compulsory reading for all medical geneticists...Overall, the book maintains the high standard of previous editions and represents the best source of information on prenatal diagnosis of genetic disorders. My doubts on clinical questions are often cleared by referring to this volume. The book should be on the shelf of all departments of medical genetics and fetal medicine specialists." (Journal of Fetal Medicine, 26th July 2017)

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 xiList of Contributors xii1 Genetic Counseling: Preconception, Prenatal, and Perinatal 1Aubrey Milunsky and Jeff MMilunsky2 Amniocentesis, Chorionic Villus Sampling, and Fetal Blood Sampling 68Anthony O Odibo3 Amniotic Fluid Constituents, Cell Culture, andNeural TubeDefects 98Daniel L Van Dyke and Aubrey Milunsky4 Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis 178Peter A Benn5 PrenatalDiagnosis of Sex Chromosome Abnormalities 267Jeff M Milunsky6 Molecular Cytogenetics and PrenatalDiagnosis 313Stuart Schwartz7 PrenatalDiagnosis and the Spectrumof Involvement from Fragile X Mutations 350Randi Hagerman and Paul Hagerman8 Prenatal Diagnosis by Microarray Analysis 366Joris Robert Vermeesch9 Molecular Genetics and Prenatal Diagnosis 380Aubrey Milunsky, Clinton Baldwin, and Jeff Milunsky10 Preimplantation Genetic Diagnosis 419Anver Kuliev and Svetlana Rechitsky11 Noninvasive Prenatal Screening and Diagnosis Using Cell-free Fetal DNA 453Melissa Hill and Lyn S Chitty12 Maternal Serum Screening for Chromosomal Abnormalities and Neural Tube Defects 483Howard Cuckle, Eugene Pergament, and Peter Benn13 Prenatal Diagnosis of Fetal Malformations by Ultrasound 541Yves G Ville and Jean-Philippe Bault14 Prenatal Diagnosis and Management of Abnormal Fetal Development in the Third Trimester of Pregnancy 599Roland Axt-Fliedner and Aline Wolter15 Prenatal Diagnosis by Fetal Magnetic Resonance Imaging 660Nadine Girard and Kathia Chaumoitre16 Prenatal Diagnosis of Skeletal Dysplasias and Connective Tissue Disorders 681Andrea Superti-Furga and Sheila Unger17 Prenatal Diagnosis of Cystic Fibrosis 700Wayne W Grody18 Prenatal Diagnosis of the Hemoglobinopathies 718John M Old19 Prenatal Diagnosis of Primary Immunodeficiency Diseases 755Jennifer M Puck20 Prenatal Diagnosis of Disorders of Lipid Metabolism 773Steven Humphries, Sara Mole, and Bryan Winchester21 Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies 838Ronald J.A. Wanders22 Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy 857John J Hopwood23 Disorders of Metabolism of Amino Acids and Related Compounds 877Georgianne L Arnold and Jerry Vockley24 Prenatal Diagnosis of Disorders of Carbohydrate Metabolism 903Deeksha Sarihyan Bali, Stephanie Austin, and Yuan-Tsong Chen25 Prenatal Diagnosis of Miscellaneous Biochemical Disorders 927David S Rosenblatt and David Watkins26 Prenatal Diagnosis of Fetal Infection 942Yves G Ville and Marianne Leruez-Ville27 Fetal Medical Therapy 976Phyllis W Speiser and Aubrey Milunsky28 Fetal Surgery 989Benjamin AKeller, Shinjiro Hirose, and Diana L Farmer29 Induced Abortion for Genetic Indications: Techniques and Complications 1011Lee P Shulman30 Molecular Aspects of Placental Development 1031Wendy P Robinson and Deborah E McFadden31 Grief after Perinatal Loss 1048Anette Kersting and Michaela Nagl32 Medicolegal Aspects of Prenatal Diagnosis 1063Ellen Wright Clayton33 Prenatal and Preimplantation Diagnosis: International Policy Perspectives 1091Minh Thu Minh Nguyen and Bartha Maria Knoppers34 Ethical Issues in the Diagnosis and Management of Genetic Disorders in the Fetus 1106Frank A Chervenak and Laurence B McCulloughIndex 1131

"As the previous editions, this is an incredibly useful volume. The editors have engaged multiple experts on specific topics, as well as provided the latest and most up-to-date information and discus­sions without leaving out broad topics, such as genetic counseling, medical/legal aspects, and ethical issues. Each chapter has useful figures and tables, including some lovely colored illustrations...In summary, this is a superb book, both a reference and a resource. It is clearly an essential book for anyone involved in prenatal diagnosis, and for those who want to learn more about it. It is hard to be critical of such a wonderful resource." (European Journal of Human Genetics, 2017)"The Seventh Edition of this classic text has been edited with customary care and attention devoted by the two Milunskys. It consists of 34 chapters and represents the most extensive coverage of prenatal diagnosis of genetic disorders. The first chapter on genetic counseling is excellent and should be compulsory reading for all medical geneticists...Overall, the book maintains the high standard of previous editions and represents the best source of information on prenatal diagnosis of genetic disorders. My doubts on clinical questions are often cleared by referring to this volume. The book should be on the shelf of all departments of medical genetics and fetal medicine specialists." (Journal of Fetal Medicine, 26th July 2017)