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Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 8th Edition

ISBN: 9781119676935
ISBN: 9781119676935
Διαστάσεις 25 × 18 cm



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Explore the latest edition of the definitive resource on prenatal genetic diagnosis 

In the newly revised eighth edition of Genetic Disorders and the Fetus, authors and acclaimed medical doctors, Aubrey and Jeff Milunsky, deliver a thorough and comprehensive reference perfect for academicians, students in post-graduate specialization courses, and working medical professionals. This book incorporates the knowledge, wisdom, perspectives, and recommendations from a renowned team of contributing authors, drawing upon their extensive experience in prenatal genetic diagnosis to present the definitive reference work used routinely around the world.

In addition to fundamental information on established prenatal diagnosis and exhaustively referenced coverage of new techniques, you’ll find new chapters on preconception genetic counselling, preimplantation genetic diagnosis, advances in fetal imaging, and gene therapy. Genetic Disorders and the Fetus is authored by a global team of internationally recognized contributors, all of whom are leading voices in the field

The eighth edition also contains:

  • A thorough discussion of the public policy and ethics of embryo editing, including mitochondrial replacement treatment, and gene patents, prenatal diagnosis, and polygenic disease risk prediction
  • An exploration of preimplantation genetic diagnosis, pharmacogenetics and prenatal diagnosis, and whole genome sequencing
  • A treatment of genetic disorders and pharmacologic therapy, including spinal muscular atrophy and fragile X syndrome
  • A discussion of legal issues, including the fetus as plaintiff and the increasing liability of physicians due to advances in genetics

Perfect for obstetricians, clinical geneticists, molecular and biochemical geneticists, and pediatricians, Genetic Disorders and the Fetus will also earn a place in the libraries of neonatologists, genetics counsellors, ethicists, radiologists, and professionals working in public policy and health departments.



Preface ix

Acknowledgments xiii

Contributors xv

1 Genetic Counseling: Preconception, Prenatal, and Perinatal 1
Aubrey Milunsky and Jeff M Milunsky

2 PreimplantationGenetic Testing 102
Anver Kuliev and Svetlana Rechitsky

3 Amniotic Fluid Constituents, Cell Culture, andNeural TubeDefects 140
Daniel L Van Dyke and Aubrey Milunsky

4 Molecular Aspects of PlacentalDevelopment 197
Wendy P Robinson and Deborah E McFadden

5 FetalOrigins of AdultHealth andDisease .214
Michael G Ross and Mina Desai

6 Maternal SerumScreening for Chromosomal Abnormalities andNeural TubeDefects 240
Howard Cuckle

7 Noninvasive Screening for AneuploidyUsing Cell-Free PlacentalDNA 301
Lorraine Dugoff

8 Noninvasive Prenatal Diagnosis and Screening for Monogenic Disorders Using Cell-Free DNA 318
Ignatia B Van den Veyver, Natalie Chandler and Lyn S Chitty

9 Amniocentesis, ChorionicVillus Sampling, and Fetal Blood Sampling .346
Anthony O Odibo

10 PrenatalDiagnosis ofNeural TubeDefects 375
Aubrey Milunsky

11 Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis 404
Peter A Benn

12 PrenatalDiagnosis of Sex Chromosome Abnormalities 499
Jeff M Milunsky

13 PrenatalDiagnosis of Chromosomal Abnormalities: FromKaryotype toMicroarray 547
Brynn Levy

14 MolecularGenetics and PrenatalDiagnosis 572
Jeff M Milunsky

15 PrenatalDiagnosis of Cystic Fibrosis 611
Wayne W Grody

16 PrenatalDiagnosis and the Spectrumof Involvement fromFragile XMutations 629
Randi J Hagerman and Paul J Hagerman

17 PrenatalDiagnosis of FetalMalformations byUltrasound .647
Liesbeth van Leeuwen, Malou A Lugthart and Eva Pajkrt

18 Prenatal Diagnosis and Management of Abnormal Fetal Development in theThird Trimester of Pregnancy 701
Roland Axt-Fliedner and AlineWolter

19 PrenatalDiagnosis by FetalMagnetic Resonance Imaging .760
Nadine Girard and Kathia Chaumoitre

20 PrenatalDiagnosis of SkeletalDysplasias and Connective TissueDisorders 783
Andrea Superti-Furga and Sheila Unger

21 PrenatalDiagnosis ofDisorders of CarbohydrateMetabolism 803
Deeksha Sarihyan Bali, Stephanie L Austin and Priya S Kishnani

22 Disorders ofMetabolismof Amino Acids and Related Compounds 831
Andrea Gropman, Georgianne Arnold and Jerry Vockley

23 The Mucopolysaccharidoses: Prenatal Diagnosis, Neonatal Screening and Emerging Therapies 868
Lorne A Clarke

24 Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies 890
Ronald J.A.Wanders and Hans R.Waterham

25 PrenatalDiagnosis ofDisorders of LipidMetabolism 910
James E Davison, Steven E Humphries, Bryan G.Winchester and Sara E Mole

26 PrenatalDiagnosis of Primary ImmunodeficiencyDiseases 982
Jennifer M Puck

27 PrenatalDiagnosis of theHemoglobinopathies 1002
John M Old and Jan Traeger-Synodinos

28 PrenatalDiagnosis of InheritedDisorders of Folate and CobalaminMetabolism .1035
David S Rosenblatt andDavidWatkins

29 Fetal Surgery .1050
Michael A Belfort and Alireza A Shamshirsaz

30 In Utero StemCell Transplantation, Enzyme Replacement, andGeneTherapy 1105
Tippi C MacKenzie andMarisa E Schwab

31 MaternalGeneticDisordersThat Affect FetalHealth 1120
Karin J Blakemore

32 Pregnancy Termination forGeneticDisorders: Indications and Complications 1158
Lee P Shulman

33 Providing Supportive Psychosocial Care to Parents after Perinatal Loss 1179
Marianne H Hutti

34 PrenatalDiagnosis of Fetal Infection 1197
Marianne Leruez-Ville, Valentine Faure-Bardon and Yves G Ville

35 Medicolegal Aspects of PrenatalDiagnosis 1236
EllenWright Clayton

36 Prenatal and PreimplantationDiagnosis: International Policy Perspectives 1250
Minh Thu Minh Nguyen and Bartha Maria Knoppers

37 Ethical Issues in theDiagnosis andManagement ofGeneticDisorders in the Fetus 1267
Frank A Chervenak and Laurence B McCullough

Index 1294