Genetic Disorders and the Fetus

Aubrey Milunsky, MD, DSc, FRCP is Founder & Co-Director of the Center for Human Genetics, Adjunct Professor of Obstetrics and Gynecology at Tufts University School of Medicine, previously Professor of Human Genetics, Pediatrics, Obstetrics & Gynecology at Boston University School of Medicine. He is the author or editor of 26 books.Jeff M. Milunsky, MD is Co-Director of the Center for Human Genetics, Adjunct Professor of Obstetrics & Gynecology at Tufts University School of Medicine, Director of Clinical & Molecular Genetics & previously Professor of Pediatrics and Genetics and Genomics at Boston University School of Medicine.

• Preface ixAcknowledgments xiiiContributors xv1 Genetic Counseling: Preconception, Prenatal, and Perinatal 1Aubrey Milunsky and Jeff M Milunsky2 PreimplantationGenetic Testing 102Anver Kuliev and Svetlana Rechitsky3 Amniotic Fluid Constituents, Cell Culture, andNeural TubeDefects 140Daniel L Van Dyke and Aubrey Milunsky4 Molecular Aspects of PlacentalDevelopment 197Wendy P Robinson and Deborah E McFadden5 FetalOrigins of AdultHealth andDisease .214Michael G Ross and Mina Desai6 Maternal SerumScreening for Chromosomal Abnormalities andNeural TubeDefects 240Howard Cuckle7 Noninvasive Screening for AneuploidyUsing Cell-Free PlacentalDNA 301Lorraine Dugoff8 Noninvasive Prenatal Diagnosis and Screening for Monogenic Disorders Using Cell-Free DNA 318Ignatia B Van den Veyver, Natalie Chandler and Lyn S Chitty9 Amniocentesis, ChorionicVillus Sampling, and Fetal Blood Sampling .346Anthony O Odibo10 PrenatalDiagnosis ofNeural TubeDefects 375Aubrey Milunsky11 Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis 404Peter A Benn12 PrenatalDiagnosis of Sex Chromosome Abnormalities 499Jeff M Milunsky13 PrenatalDiagnosis of Chromosomal Abnormalities: FromKaryotype toMicroarray 547Brynn Levy14 MolecularGenetics and PrenatalDiagnosis 572Jeff M Milunsky15 PrenatalDiagnosis of Cystic Fibrosis 611Wayne W Grody16 PrenatalDiagnosis and the Spectrumof Involvement fromFragile XMutations 629Randi J Hagerman and Paul J Hagerman17 PrenatalDiagnosis of FetalMalformations byUltrasound .647Liesbeth van Leeuwen, Malou A Lugthart and Eva Pajkrt18 Prenatal Diagnosis and Management of Abnormal Fetal Development in theThird Trimester of Pregnancy 701Roland Axt-Fliedner and AlineWolter19 PrenatalDiagnosis by FetalMagnetic Resonance Imaging .760Nadine Girard and Kathia Chaumoitre20 PrenatalDiagnosis of SkeletalDysplasias and Connective TissueDisorders 783Andrea Superti-Furga and Sheila Unger21 PrenatalDiagnosis ofDisorders of CarbohydrateMetabolism 803Deeksha Sarihyan Bali, Stephanie L Austin and Priya S Kishnani22 Disorders ofMetabolismof Amino Acids and Related Compounds 831Andrea Gropman, Georgianne Arnold and Jerry Vockley23 The Mucopolysaccharidoses: Prenatal Diagnosis, Neonatal Screening and Emerging Therapies 868Lorne A Clarke24 Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies 890Ronald J.A.Wanders and Hans R.Waterham25 PrenatalDiagnosis ofDisorders of LipidMetabolism 910James E Davison, Steven E Humphries, Bryan G.Winchester and Sara E Mole26 PrenatalDiagnosis of Primary ImmunodeficiencyDiseases 982Jennifer M Puck27 PrenatalDiagnosis of theHemoglobinopathies 1002John M Old and Jan Traeger-Synodinos28 PrenatalDiagnosis of InheritedDisorders of Folate and CobalaminMetabolism .1035David S Rosenblatt andDavidWatkins29 Fetal Surgery .1050Michael A Belfort and Alireza A Shamshirsaz30 In Utero StemCell Transplantation, Enzyme Replacement, andGeneTherapy 1105Tippi C MacKenzie andMarisa E Schwab31 MaternalGeneticDisordersThat Affect FetalHealth 1120Karin J Blakemore32 Pregnancy Termination forGeneticDisorders: Indications and Complications 1158Lee P Shulman33 Providing Supportive Psychosocial Care to Parents after Perinatal Loss 1179Marianne H Hutti34 PrenatalDiagnosis of Fetal Infection 1197Marianne Leruez-Ville, Valentine Faure-Bardon and Yves G Ville35 Medicolegal Aspects of PrenatalDiagnosis 1236EllenWright Clayton36 Prenatal and PreimplantationDiagnosis: International Policy Perspectives 1250Minh Thu Minh Nguyen and Bartha Maria Knoppers37 Ethical Issues in theDiagnosis andManagement ofGeneticDisorders in the Fetus 1267Frank A Chervenak and Laurence B McCulloughIndex 1294