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Contributors

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Georgianne L. Arnold, md

Professor of Pediatrics

University of Pittsburgh School of Medicine

Clinical Director, Division of Medical Genetics

Children's Hospital Pittsburgh

Pittsburgh, PA, USA

Stephanie L. Austin, ms, ma, cgc

Genetic Counsellor

Senior Research Program Leader

Division of Medical Genetics

Duke University

Durham, NC, USA

Roland M. Axt‐Fliedner, md, phd

Professor of Obstetrics and Gynecology

Justus‐Liebig‐University

Head

Division of Prenatal Medicine and Fetal Therapy

University Hospital

Giessen, Germany

Deeksha Sarihyan Bali, phd, facmgg

Professor of Pediatrics

Laboratory Director Biochemical Genetics Laboratory

Division of Medical Genetics

Duke Health

Durham, NC, USA

Michael A. Belfort, mbbch, d. Mid. cog(sa), d.a (sa), md, phd, frcog, frcsc, facog

Professor and Ernst Bertner Chair, Department of Obstetrics and Gynecology

Secondary appointments: Departments of Anesthesiology, Surgery, Neurosurgery

Baylor College of Medicine

Obstetrician and Gynecologist‐in‐Chief

FB McGuyer and Family Chair in Fetal Surgery

Medical Director, Texas Children's Fetal Center

Texas Children's Hospital

Houston, TX, USA

Peter A. Benn, bsc, msc, phd, facmg, dsc

Professor Emeritus

Department of Genetics and Genome Sciences

University of Connecticut Health Center

Farmington, CT, USA

Karin J. Blakemore, md

Professor of Gynecology and Obstetrics, Oncology, and Medical Genetics

Director, Prenatal Genetics Center

Division of Maternal‐Fetal Medicine

Department of Gynecology and Obstetrics

Johns Hopkins University School of Medicine

Baltimore, MD, USA

Natalie Chandler, frcpath

Senior Clinical Scientist

North Thames Genomic Laboratory Hub

Great Ormond Street Hospital for Children NHS Foundation Trust

London, UK

Kathia Chaumoitre, md, phd

Professor of Paediatric Radiology

Imaging Department

North Hospital

Aix‐Marseille University

Marseille, France

Frank A. Chervenak, md, mmm

Professor and Chair

Department of Obstetrics and Gynecology

Associate Dean, International Medicine

Zucker School of Medicine at Hofstra/Northwell

Lenox Hill Hospital

New York, NY, USA

Lyn S. Chitty, phd, mb, bs, mrcog

Professor of Genetics and Fetal Medicine

Medical Director North Thames Genomic Laboratory Hub

Great Ormond Street Hospital for Children

Genetics and Genomic Medicine, UCL Institute of Child Health

London, UK

Lorne A. Clarke, mdcm, frcpc, fccmg

Professor of Medical Genetics

University of British Columbia

Department of Medical Genetics

British Columbia Children's Hospital Research Institute

Vancouver, British Columbia, Canada

Howard Cuckle, msc, dphil

Professor

Faculty of Medicine, Tel Aviv University

Tel Aviv, Israel

James E. Davison, mbchb, phd

Consultant in Paediatric Metabolic Medicine

Department of Metabolic Medicine

Great Ormond Street Hospital for Children NHS Foundation Trust

London, UK

Mina Desai, phd

Associate Professor of Obstetrics & Gynecology

David Geffen School of Medicine at UCLA

Los Angeles, CA, USA

Director of Perinatal Research

The Lundquist Institute at Harbor‐UCLA Medical Center

Torrance, CA, USA

Lorraine Dugoff, md

Professor of Obstetrics and Gynecology

University of Pennsylvania School of Medicine

Chief, Reproductive Genetics Division

Department of Obstetrics and Gynecology

Hospital of the University of Pennsylvania

Philadelphia, PA, USA

Valentine Faure‐Bardon

Lecturer in Obstetrics and Fetal Medicine

Department of Obstetrics and Fetal Medicine

Hôpital Necker‐Enfants Malades, GH Paris‐Centre

Université de Paris

Paris, France

Nadine Girard, md, phd

Professor of Neuroradiology

Centre de Resonance Magnetique Biologique et Medicale

Centre National de la Recherche Scientifique

Faculte de Medicine la Timone

Université de La Mediterranée

Head of Neuroradiology

Timone Hospital

Aix‐Marseille University

Marseille, France

Wayne W. Grody, md, phd

Professor

Divisions of Medical Genetics and Molecular Diagnostics

Departments of Pathology and Laboratory Medicine, Pediatrics, and Human Genetics

University of California Los Angeles School of Medicine

UCLA Institute for Society and Genetics

Director

Molecular Diagnostic Laboratories and Clinical Genomics Center

UCLA Medical Center

Los Angeles, CA, USA

Andrea Gropman, md, faap, facmg

Professor of Neurology and Pediatrics

Chief, Neurogenetics and Neurodevelopmental Disabilities

Children's National Medical Center and the George Washington University School of Medicine

Washington DC, USA

Paul J. Hagerman, md, phd

Distinguished Professor

Department of Biochemistry and Molecular Medicine

School of Medicine

University of California, Davis Health System

Sacramento, CA, USA

Randi J. Hagerman, md

Distinguished Professor of Pediatrics

Endowed Chair in Fragile X Research

Medical Director

MIND Institute

University of California, Davis Health System

Sacramento, CA, USA

Steven E. Humphries, phd

Emeritus Professor of Cardiovascular Genetics

Institute of Cardiovascular Science

University College London

London, UK

Marianne H. Hutti, phd, whnp‐bc, faanp, faan

Professor

College of Nursing

Senior Nurse Scientist

University of Kentucky Healthcare – Ambulatory Services

University of Kentucky

Lexington, KY, USA

Priya S. Kishnani, md, facmgg

C.L. and Su Chen Professor of Pediatrics and Professor of Molecular Genetics and Microbiology

Duke University School of Medicine

Medical Director, YT and Alice Chen Pediatrics Genetics and Genomics Center

Division Chief, Medical Genetics

Duke Health

Durham, NC, USA

Bartha Maria Knoppers, phd, oc, oq

Canada Research Chair in Law and Medicine

Director, Centre of Genomics and Policy

Department of Human Genetics

Faculty of Medicine

McGill University

Montreal, Quebec, Canada

Anver Kuliev, md, phd

Clinical Professor

Herbert Wertheim College of Medicine

Florida International University

Miami, FL

Director of Research

Reproductive Genetics Innovations

Northbrook, IL, USA

Marianne Leruez‐Ville, md, phd

Consultant in Medical Virology

National Reference Laboratory for Congenital

Cytomegalovirus Infections

Hôpital Necker‐Enfants‐Malades, GH Paris Centre

Université de Paris

Paris, France

Brynn Levy, msc(Med), phd, facmg

Professor of Pathology and Cell Biology, Columbia University Medical Center

Medical Director, Clinical Cytogenetics Laboratory

Co‐Director, Laboratory of Personalized Genomic Medicine

Vagelos College of Physicians and Surgeons

Columbia University Irving Medical Center & the New York Presbyterian Hospital

New York, NY, USA

Malou A. Lugthart, md

Research Fellow in Fetal Medicine

Department of Obstetrics

Amsterdam Reproduction and Development Research Institute

Amsterdam University Medical Centers

University of Amsterdam

Amsterdam, The Netherlands

Tippi C. MacKenzie, md

Professor of Surgery

Co‐Director, Center for Maternal‐Fetal Precision Medicine

University of California, San Francisco

San Francisco, CA, USA

Laurence B. McCullough, phd

Professor

Department of Obstetrics and Gynecology

Zucker School of Medicine at Hofstra/Northwell

Ethics Scholar

Department of Obstetrics and Gynecology

Lenox Hill Hospital

New York, NY, USA

Deborah E. McFadden, md, frcpc

Clinical Professor

Department of Pathology and Laboratory Medicine

University of British Columbia

Head and Medical Director

Department of Pathology and Laboratory Medicine

Children's & Women's Hospitals of British Columbia

Vancouver, BC, Canada

Aubrey Milunsky, md, dsc, frcp, facmg, dch

Professor of Obstetrics and Gynecology

Tufts University School of Medicine, Boston, MA, USA

Formerly Professor of Human Genetics, Pediatrics,

Obstetrics and Gynecology, and Pathology

Boston University School of Medicine

Founder and Co-Director, Center for Human Genetics

Cambridge, MA, USA

Jeff M. Milunsky, md, facmg

Professor of Obstetrics and Gynecology

Tufts University School of Medicine

Formerly Professor of Genetics and Genomics, and Pediatrics

Boston University School of Medicine

Co-Director, Center for Human Genetics

Director, Clinical Genetics and Molecular Genetics

Cambridge, MA, USA

Sara E. Mole, phd

Professor in Molecular Cell Biology

UCL Great Ormond Street Institute of Child Health

MRC Laboratory of Molecular Cell Biology

Genetics and Genomics Medicine Research & Teaching Department

Inborn Errors of Metabolism Section

University College London

London, UK

Minh Thu Minh Nguyen, llm, llb, bsc

Academic Associate

Centre of Genomics and Policy

McGill University

Montreal, Quebec, Canada

Anthony O. Odibo, md, msce

Professor

Maternal Fetal Medicine

Department of Obstetrics and Gynecology

University of South Florida

Tampa, FL, USA

John M. Old, phd, frcpath

Clinical Scientist

Emeritus Reader in Hematology

University of Oxford, Oxford, UK

Eva Pajkrt, md, phd

Professor of Obstetrics

Head of Obstetrics and Fetal Medicine

Department of Obstetrics

Amsterdam Reproduction and Development Research Institute

Amsterdam University Medical Centers

University of Amsterdam

Amsterdam, The Netherlands

Jennifer M. Puck, md

Professor of Pediatrics

Division of Allergy/Immunology and Blood and Marrow Transplantation

University of California San Francisco

Department of Pediatrics

San Francisco, CA, USA

Svetlana Rechitsky, phd

Clinical Associate Professor

Herbert Wertheim College of Medicine

Florida International University

Miami, FL, USA

President

Reproductive Genetic Innovations

Northbrook, IL, USA

Wendy P. Robinson, phd

Professor, Department of Medical Genetics

University of British Columbia

Senior Scientist

Child and Family Research Institute

Vancouver, BC, Canada

David S. Rosenblatt, mdcm, fccmg, frcpsc, faap, facmg

Dodd Q. Chu and Family Chair in Medical Genetics

Professor

Departments of Human Genetics

Medicine, Pediatrics, and Biology

Faculties of Medicine and Science

McGill University

Montreal, Quebec, Canada

Michael G. Ross, md, mph

Distinguished Professor of Obstetrics and Gynecology and Public Health

Geffen School of Medicine at University of California Los Angeles

Fielding School of Public Health at UCLA

Los Angeles, CA, USA

Co‐Director Institute for Women' and Children's Health

The Lundquist Institute at Harbor‐UCLA Medical Center

Torrance, CA, USA

Marisa E. Schwab, md

Surgery Resident

The Center for Maternal‐Fetal Precision Medicine and Department of Surgery

University of California, San Francisco

San Francisco, CA, USA

Alireza A. Shamshirsaz

Associate Professor of Surgery, Obstetrics and Gynecology

Departments of Obstetrics and Gynecology and Surgery

Baylor College of Medicine

Chief, Division of Fetal Therapy and Surgery

Co-Chief, Maternal Fetal Surgery Section

Texas Children's Fetal Center

Texas Children's Hospital

Houston, TX, USA

Lee P. Shulman, md, facmg, facog

The Anna Ross Lapham Professor in Obstetrics and Gynecology

Feinberg School of Medicine of Northwestern University

Medical Director, Insight Medical Genetics

Medical Director, Reproductive Genetic Innovations

Chicago, IL, USA

Andrea Superti‐Furga, md

Professor of Pediatrics

University of Lausanne

Head, Division of Genetic Medicine

Lausanne University Hospital

Lausanne, Switzerland

Jan Traeger‐Synodinos, dphil (Oxon), erclg

Professor of Genetics

Director of the Laboratory of Medical Genetics

National and Kapodistrian University of Athens, Greece

Sheila Unger, md, frcpc

Chief

MER1 Division of Genetic Medicine

Lausanne University Hospital

Lausanne, Switzerland

Ignatia B. Van den Veyver, md

Professor of Obstetrics and Gynecology and Molecular and Human Genetics

Baylor College of Medicine;

Director of Clinical Prenatal Genetics

Texas Children's Hospital

Houston, TX, USA

Daniel L. Van Dyke, phd

Professor of Laboratory Medicine and Pathology

Mayo Medical School and Mayo Clinic Cytogenetics Laboratory

Rochester, MN, USA

Liesbeth van Leeuwen, md, phd

Associate Professor

Department of Obstetrics

Amsterdam Reproduction and Development Research Institute

Amsterdam University Medical Centers

University of Amsterdam

Amsterdam, The Netherlands

Yves G. Ville, md

Professor of Obstetrics and Fetal Medicine

Head of Department of Obstetrics and Fetal Medicine

Hôpital Necker‐Enfants Malades, GH Paris‐Centre

Université de Paris

Paris, France

Gerard Vockley, md, phd

Professor of Pediatrics and Human Genetics

Cleveland Family Endowed Professor of Pediatric Research

Department of Pediatrics

University of Pittsburgh School of Medicine and Graduate School of Public Health

Chief, Division of Medical Genetics

Director, Center for Rare Disease Therapy

Children's Hospital of Pittsburgh

Pittsburgh, PA, USA

Ronald J.A. Wanders

University of Amsterdam, Academic Medical Center

Departments of Clinical Chemistry and Pediatrics

Emma Children's Hospital

Laboratory of Genetic Metabolic Diseases

Amsterdam, The Netherlands

Hans R. Waterham, phd

Professor, Functional Genetics of Metabolic Diseases

Departments of Laboratory Medicine and Pediatrics

University of Amsterdam

Academic Medical Center

Laboratory for Genetic Metabolic Diseases

Amsterdam, The Netherlands

David Watkins, phd

Research Associate

Department of Human Genetics

McGill University

Scientist

Division of Medical Genetics, Department of Specialized Medicine

McGill University Health Centre

Montreal, Quebec, Canada

Bryan G. Winchester, ma, phd

Emeritus Professor of Biochemistry

ULC Great Ormond Street Institute of Child Health

University College London

London, UK

Aline Wolter, md

Justus‐Liebig‐University, Giessen

Department of Obstetrics and Gynecology

Division of Prenatal Medicine and Fetal Therapy

University Hospital

Giessen, Germany

Ellen Wright Clayton, md, jd

Craig‐Weaver Professor of Pediatrics

Professor of Law

Center for Biomedical Ethics and Society

Vanderbilt University

Nashville, TN, USA

Genetic Disorders and the Fetus

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