Genetic Disorders and the Fetus (eBook)

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

"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 discus-sions 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)