Genetic Disorders and the Fetus

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

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• Medicina: temas gerais

<p>Prenatal genetics; prenatal genetic diagnosis; prenatal genetic disorders; fetal genetic disorders; fetal genetics; prenatal genetics reference; prenatal genetics textbook; prenatal genetic diagnosis reference; prenatal genetic disease </p>