Genetic Disorders and the Fetus

Current laws and public policy regarding prenatal diagnosis and PGT in 16 countries are examined in detail regarding international differences, with special reference to the guidelines relevant to the emerging technologies. A senior physician‐lawyer, in reviewing the important principles in the torts of wrongful birth and wrongful life, focused on the potential liability of those involved in reproductive medicine. Professional ethics in obstetrics, with emphasis on the ethical principles of beneficence and autonomy and the ethical concept of the fetus as a patient, receive in‐depth discussion by doyens in this field.

This volume is a major repository of facts about prenatal diagnosis and provides a critical analysis and synthesis of established and new knowledge based on the long experience of the senior contributing authorities in their respective fields. In addition, a broad international perspective is presented with contributions from recognized international experts from nine countries. The guidance provided and the insights and perspectives of these authors make this volume a valuable and indispensable resource for all those whose focus is securing fetal health through prenatal diagnosis or PGT.

This text is very well referenced and replete with evidence‐based guidance and reflective of the lifetime experience and wisdom of distinguished senior authors. This edition encompasses 152 tables, 167 figures, and over 10,000 references. A valuable index will facilitate the reader's search for specific information.

The major technologic advances in genetics have made the requirement for preconception, prenatal, and perinatal genetic counseling of paramount importance. Even though the underlying principles and prerequisites are well established, the many advances have introduced a panoply of new challenges discussed in detail in a comprehensive, heavily referenced opening chapter. We are in the golden era of human genetics, and through new discoveries and insights have increased opportunities for the diagnosis, prevention, and treatment of many serious and lethal genetic disorders.

Aubrey Milunsky and Jeff M. Milunsky

Cambridge

This eighth edition marks the 42nd year of this text and reflects the continuing remarkable advances made in achieving accurate prenatal and preimplantation diagnoses. The first book on this subject ( The Prenatal Diagnosis of Hereditary Disease ) was published some 48 years ago (by AM). The distillation of accrued biological, technological, ethical, and legal knowledge has graced these pages and enriched the reference value of these editions. The wisdom, insight, perspective, expertise, experience, and knowledge of these senior contributing authors has made these volumes a valuable and authoritative text. Moreover, these authors have again provided an international perspective, this edition having contributions from nine countries.

Expert care in human genetics, maternal–fetal medicine, and perinatal medicine has demanded knowledge, up‐to‐date information, guidance, and expertise in each volume. This has been achieved only by the willingness of the internationally recognized authoritative authors who have taken the time to share their knowledge, experience, and wisdom. For this we are most appreciative.

We are also grateful and indebted to our friends and colleagues who have died and who were expert contributing authors to earlier editions. We remember them with pride and sadness: Bruno Brambati, MD, David J.H. Brock, PhD, Jacob A. Canick, PhD, Louis Dalliaire, MD, PhD, Sherman Elias, MD, H.J. Evans, PhD, FRSE, John C. Fletcher, PhD, Fredric Frigoletto, MD, Albert B. Gerbie, MD, Leonard A. Herzenberg, PhD, George Hug, MD, Lillian Y.F. Hsu, MD, Mary Z. Pelias, PhD, JD, Arthur Robinson, MD, Richard H. Schwarz, MD, Margery W. Shaw, MD, JD, Irving Umansky, MD, Yury Verlinsky, PhD, and Dorothy C. Wertz, PhD.

It is possible that we are unaware of the passing of a few authors and regret any omission. We remain eternally grateful to all these remarkable physicians and scientists.

AM deeply appreciates the exemplary work and dedication to perfection of his assistant Marina Nguyen. JM is very grateful for the precision, accuracy, and patience of his assistant Emma Rebholz during the writing and editing of this text.

Aubrey Milunsky

Jeff M. Milunsky

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