Avery's Diseases of the Newborn

1633 Pages·2005·38.44 MB·English

by  M.D., M.D. (Eds.), H. William Taeusch, Roberta A. Ballard, and Christine A. Gleason

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Contributors
Ira Adams-Chapman, M.D. H. Scott Baldwin, M.D.
Co-Director, Developmental Progress Clinic, Department Katrina Overall Professor of Pediatrics, Professor of Cell
of Pediatrics, Emory University School of Medicine, and Developmental Biology, and Vice-Chair for Labora-
Atlanta, Georgia tory Sciences in Pediatrics, Department of Pediatrics, Van-
Nosocomial Infections in the Nursery derbilt University School of Medicine; Senior Cardiologist,
Vanderbilt Children’s Hospital, Nashville, Tennessee
Anne M. Ades, M.D. Embryology and Development of the Cardiovascular System
Clinical Associate Professor of Neonatology, University of
Pennsylvania School of Medicine; Neonatologist, The Chil- Philip L. Ballard, M.D., Ph.D.
dren’s Hospital of Philadelphia, Philadelphia, Pennsylvania Gisela and Dennis Alter Professor of Pediatrics, Division
Management of Congenital Heart Disease in the Low-Birth- of Neonatology, Department of Pediatrics, University of
Weight Infant Pennsylvania School of Medicine; Director of Neona-
tal Research, The Children’s Hospital of Philadelphia,
Amina Ahmed, M.D. Philadelphia, Pennsylvania
Clinical Assistant Professor, University of North Carolina Hormonal Influences on Fetal Development; Lung Develop-
at Chapel Hill School of Medicine; Pediatric Infecti- ment: Embryology, Growth, Maturation, and Developmental
ous Disease, Carolinas Medical Center, Charlotte, North Biology
Carolina
Toxoplasmosis, Syphilis, Malaria, and Tuberculosis Roberta A. Ballard, M.D.
Professor of Pediatrics, University of Pennsylvania School
Simone Albers, M.D. of Medicine; Neonatologist, The Children’s Hospital of
Fellow in Pediatrics, Muenster University Faculty of Philadelphia and Hospital of the University of Pennsylvania,
Medicine and University Children’s Hospital, Muenster, Philadelphia, Pennsylvania
Germany Nonimmune Hydrops; Resuscitation in the Delivery Room; Res-
Newborn Screening piratory Failure in the Term Infant; Bronchopulmonary Dysplasia;
Disorders of the Chest Wall, Pleural Cavity, and Diaphragm
Marilee C. Allen, M.D.
Professor of Pediatrics, Johns Hopkins University School Beverly A. Banks-Randall, M.D., Ph.D., M.H.S.
of Medicine; Associate Director of Neonatology, Johns Director of Neonatology, Roy Lester Schneider Hospital,
Hopkins Hospital, and Co-Director, NICU Develop- St. Thomas, U.S. Virgin Islands
mental Clinic, Kennedy Krieger Institute, Baltimore, Bronchopulmonary Dysplasia
Maryland
Risk Assessment and Neurodevelopmental Outcomes Stephen Baumgart, M.D.
Professor of Pediatrics, State University of New York
Maureen Andrew, M.D., F.R.C.P.† at Stony Brook School of Medicine; NICU Director, Uni-
Formerly Professor of Pediatrics, McMaster University versity Hospital at Stony Brook, Stony Brook, New York
and Hamilton Civic Hospitals Research Centre, Hamilton, Temperature Regulation of the Premature Infant
Ontario; Professor of Pediatrics, The Hospital for Sick
Children, Toronto, Ontario, Canada Karen P. Beckerman, M.D.
Hemostatic Disorders of the Newborn Clinical Associate Professor, Department of Obstetrics
and Gynecology, New York University School of Medi-
Stephen A. Back, M.D., Ph.D. cine, New York, New York
Assistant Professor of Pediatrics and Neurology, Depart- Identification, Evaluation, and Care of the Human Immuno-
ment of Pediatrics, Oregon Health Sciences University, deficiency Virus–Exposed Neonate
Portland, Oregon
Developmental Physiology of the Central Nervous System; Thomas J. Benedetti, M.D., M.H.A.
Congenital Malformations of the Central Nervous System Vice Chair/Professor, Department of Obstetrics and
Gynecology, University of Washington School of Medi-
cine, Seattle, Washington
†Deceased. Complicated Deliveries: Overview
vii
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viii Contributors
Gerard T. Berry, M.D. Bernard A. Cohen, M.D.
Professor of Pediatrics and Vice Dean for Research, Jeffer- Associate Professor of Pediatrics and Dermatology, Johns
son Medical College, Thomas Jefferson University, Philadel- Hopkins University School of Medicine; Director, Pedi-
phia, Pennsylvania atric Dermatology, Johns Hopkins Hospital, Baltimore,
Introduction to the Metabolic and Biochemical Genetic Dis- Maryland
eases; Inborn Errors of Carbohydrate, Ammonia, Amino Acid, Newborn Skin: Development and Basic Concepts; Congeni-
and Organic Acid Metabolism tal and Hereditary Disorders of the Skin; Infections of the
Skin; Common Newborn Dermatoses; Cutaneous Congenital
Defects
Carol Lynn Berseth, M.D.
Director, Medical Affairs, Mead Johnson and Company,
Meryl S. Cohen, M.D.
Evansville, Indiana
Interim Director of Echocardiography Laboratory,
Developmental Anatomy and Physiology of the Gastrointestinal
Tract; Structural Anomalies of the Gastrointestinal Tract; Physio- The Children’s Hospital of Philadelphia, Philadelphia,
logic and Inflammatory Abnormalities of the Gastrointestinal Pennsylvania
Tract; Abdominal Wall Problems; Necrotizing Enterocolitis and Echocardiography in the Neonatal Intensive Care Unit
Short Bowel Syndrome
Mitchell I. Cohen, M.D.
Kathleen E. Bethin, M.D., Ph.D. Medical Director of Pediatric Cardiology and Director of
Assistant Professor of Pediatrics, Division of Endocrinol- Pacing and Electrophysiology, Phoenix Children’s Hospi-
ogy and Diabetology, Indiana University School of Medi- tal, Phoenix, Arizona
cine, Indianapolis, Indiana Arrhythmias in the Fetus and Newborn
Disorders of the Adrenal Gland
Robert M. Cohn, M.D.
Associate Professor Emeritus, University of Pennsylvania
Diana W. Bianchi, M.D.
School of Medicine, Philadelphia, Pennsylvania
Natalie V. Zucker Professor of Pediatrics, Obstetrics, and
Lysosomal Storage, Peroxisomal, and Glycosylation Dis-
Gynecology, Tufts University School of Medicine; Chief,
orders and Smith-Lemli-Opitz Syndrome Presenting in the
Division of Genetics, Tufts–New England Medical Cen-
Neonate
ter, Boston, Massachusetts
Prenatal Genetic Diagnosis
F. Sessions Cole, M.D.
Park J. White, M.D., Professor of Pediatrics, Professor of
Mitchell S. Cairo, M.D.
Cell Biology and Physiology, and Vice Chairman, Depart-
Professor of Pediatrics, Medicine, and Pathology, Columbia
ment of Pediatrics, Washington University School of Medi-
University College of Physicians and Surgeons; Chief, Divi-
cine; Director, Division of Newborn Medicine, St. Louis
sion of Pediatric Hematology and Bone Marrow Transplan-
Children’s Hospital, St. Louis, Missouri
tation, Children’s Hospital of New York–Presbyterian, New
Immunology of the Fetus and Newborn; Viral Infections of
York, New York
the Fetus and Newborn
Neonatal Leukocyte Physiology and Disorders
Anthony Corbet, M.B.
Anthony Caldamone, M.D. Clinical Professor of Pediatrics, University of Texas
Professor of Surgery (Urology) and Pediatrics, Brown Health Science Center at San Antonio; Partner, Magella
School of Medicine; Director, Urology Residency Pro- Medical Associates (Pediatrix Medical Group); Staff
gram, Rhode Island Hospital, Providence, Rhode Island Neonatologist, Christus Santa Rosa Children’s Hospital,
Ambiguous Genitalia in the Newborn Methodist Children’s Hospital, and St. Luke’s Baptist
Hospital, San Antonio, Texas
Sudhish Chandra, M.D. Control of Breathing; Pulmonary Physiology of the Newborn;
Principles of Respiratory Monitoring and Therapy; Respiratory
Assistant Professor of Pediatrics, Case Western Reserve
Distress in the Preterm Infant; Respiratory Failure in the Term
University School of Medicine; Attending Neonatologist,
Infant; Anomalies of the Airways, Mediastinum, and Lung
Rainbow Babies and Children’s Hospital, Cleveland,
Parenchyma; Disorders of the Chest Wall, Pleural Cavity, and
Ohio
Diaphragm
Temperature Regulation of the Premature Infant
Scott C. Denne, M.D.
Ramen Chmait, M.D. Professor of Pediatrics, Indiana University School of Medi-
Staff Physician, Florida Institute for Fetal Diagnosis and cine; Attending Neonatologist, James Whitcomb Riley Hos-
Therapy, Florida Perinatal Associates, Tampa, Florida pital for Children, Indianapolis, Indiana
Endocrine Disorders in Pregnancy Parenteral Nutrition
Ronald I. Clyman, M.D. Theresa J. Di Maggio, R.N., M.S.N., C.R.N.P.
Professor of Pediatrics, University of California, San Fran- Pain Management Nurse Practitioner, Departments of
cisco, School of Medicine; Senior Staff, Cardiovascular Anesthesiology and Nursing, The Children’s Hospital of
Research Institute, San Francisco, California Philadelphia, Philadelphia, Pennsylvania
Patent Ductus Arteriosus in the Premature Infant Neonatal Pain Management in the 21st Century
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Contributors ix
Eric C. Eichenwald, M.D. Alfred L. Gest, M.D.
Assistant Professor of Pediatrics, Harvard Medical School; Associate Professor of Clinical Pediatrics, Department of
Associate Director, Newborn Intensive Care Unit, Brigham Pediatrics, The Ohio State University School of Medicine
and Women’s Hospital, Boston, Massachusetts and Public Health; Neonatologist, Children’s Hospital,
Care of the Extremely Low-Birth-Weight Infant Columbus, Ohio
Principles of Respiratory Monitoring and Therapy
Jacquelyn R. Evans, M.D.
Clinical Professor, Department of Pediatrics, University Tal Geva, M.D.
of Pennsylvania School of Medicine; Clinical Director, Associate Professor of Pediatrics (Radiology), Department of
Newborn Services, and Medical Director, Neonatal Pediatrics, Harvard Medical School; Senior Associate in Car-
ECMO Program, The Children’s Hospital of Philadelphia, diology, Children’s Hospital Boston, Boston, Massachusetts
Philadelphia, Pennsylvania Nomenclature and the Segmental Approach to Congenital
Acid-Base, Fluid, and Electrolyte Management; Clinical Heart Disease
Evaluation of Renal and Urinary Tract Disease; Acute and
Chronic Renal Failure; Renal Vascular Disease in the Newborn Mary Ann E. Gibbons, R.N., B.S.N.
Clinical Nurse IV, Newborn/Infant Center, The Children’s
Nick Evans, D.M., M.R.C.P.Ch. Hospital of Philadelphia, Philadelphia, Pennsylvania
Clinical Associate Professor of Pediatrics, University of Neonatal Pain Management in the 21st Century
Sydney Faculty of Medicine; Director, NICU, Royal Prince
Alfred Hospital, Lamperdown, New South Wales, Australia William M. Gilbert, M.D.
Cardiovascular Compromise in the Newborn Infant Professor and Vice Chair, Department of Obstetrics and
Gynecology, University of California, Davis, School of
Avroy A. Fanaroff, M.D. Medicine; Attending Physician, University of California,
Eliza Henry Barnes Professor in Neonatology and Interim Davis, Medical Center, Sacramento, California
Chair, Department of Pediatrics, and Professor of Repro- Placental Function and Diseases: The Placenta, Fetal Mem-
ductive Biology, Case Western Reserve University School branes, and Umbilical Cord
of Medicine; Neonatologist, Rainbow Babies and Chil-
dren’s Hospital, Cleveland, Ohio Bertil E. Glader, M.D., Ph.D.
Perinatal-Neonatal Epidemiology Professor of Pediatrics, Stanford University School of
Medicine; Attending Pediatrician, Stanford University
Donna M. Ferriero, M.D. Hospitals, Stanford, California
Professor of Neurology and Pediatrics, Division of Child Erythrocyte Disorders in Infancy
Neurology, University of California, San Francisco, School
of Medicine, San Francisco, California Christine A. Gleason, M.D.
Central Nervous System Injury and Neuroprotection Professor of Pediatrics, University of Washington School of
Medicine; Head, Division of Neonatology, Children’s Hos-
Delbert A. Fisher, M.D. pital and Regional Medical Center, Seattle, Washington
Vice President, Science & Innovation, Quest Diagnostics Developmental Physiology of the Central Nervous System;
Nichols Institute, San Juan Capistrano, California Appendix 2: Illustrative Forms and Normal Values
Disorders of the Thyroid Gland
Michael J. Goldberg, M.D.
Laura Flores-Sarnat, M.D. Professor and Chairman, Department of Orthaepedics,
Postdoctoral Research Fellow in Neuropathology, Cedars- Tufts University School of Medicine; Orthopaedist in Chief,
Sinai Medical Center, Los Angeles, California Tufts–New England Medical Center, Boston, Massachusetts
Neonatal Neuromuscular Disorders Common Neonatal Orthopedic Ailments
Philippe S. Friedlich, M.D. William V. Good, M.D.
Assistant Professor of Clinical Pediatrics, University of Senior Scientist, Smith-Kettlewell Eye Research Institute,
Southern California Keck School of Medicine; Section San Francisco, California
Head, CHLA Operations, and Medical Director, Center Disorders of the Eye
for Newborn and Infant Critical Care, Children’s Hospital
Los Angeles, Los Angeles, California Gregory Goodwin, M.D.
Clinical Evaluation of Renal and Urinary Tract Disease; Assistant Professor of Pediatrics, Brown School of Medi-
Acute and Chronic Renal Failure cine; Director, Pediatric Endocrine Clinic, Rhode Island
Hospital, Providence, Rhode Island
J. William Gaynor, M.D. Ambiguous Genitalia in the Newborn
Associate Professor of Surgery, University of Pennsylvania
School of Medicine; Daniel M. Tabas Endowed Chair in Sameer Gopalani, M.D., M.S.
Pediatric Cardiothoracic Surgery, The Children’s Hospital Acting Instructor and Fellow, Division of Perinatal Medi-
of Philadelphia, Philadelphia, Pennsylvania cine, Department of Obstetrics and Gynecology, University
Long-Term Neurologic Outcomes in Children with Congeni- of Washington School of Medicine, Seattle, Washington
tal Heart Disease Complicated Deliveries: Overview
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x Contributors
Carol L. Greene, M.D. Andrew D. Hull, B.Med.Sci., B.M., B.S., F.R.C.O.G.,
Clinical Professor, George Washington University School of F.A.C.O.G.
Medicine; Clinical Faculty, Division of Genetics and Assistant Professor of Reproductive Medicine and Direc-
Metabolism, Department of Pediatrics, Children’s National tor of Research, University of California, San Diego,
Medical Center, Washington, DC School of Medicine, San Diego, California
Lysosomal Storage, Peroxisomal, and Glycosylation Disorders Hypertensive Complications of Pregnancy; Antepartum Fetal
and Smith-Lemli-Opitz Syndrome Presenting in the Neonate Assessment
Brian E. Grottkau, M.D.
Roy Jedeikin, M.D.
Chief of Pediatric Orthopaedics and Adult Spine Surgeon,
Medical Director of Pediatric Cardiology, St. Joseph’s
Massachusetts General Hospital, Boston, Massachusetts
Hospital and Medical Center, Phoenix, Arizona
Common Neonatal Orthopedic Ailments
Arrhythmias in the Fetus and Newborn
Peter J. Gruber, M.D., Ph.D.
Assistant Professor of Surgery, University of Pennsylvania Sandra E. Juul, M.D., Ph.D.
School of Medicine; Pediatric Cardiologist, The Children’s Associate Professor of Pediatrics, University of Washing-
Hospital of Philadelphia, Philadelphia, Pennsylvania ton School of Medicine, Seattle, Washington
Common Congenital Heart Disease: Presentation, Manage- Developmental Biology of the Hematologic System
ment, and Outcomes
Jean-Pierre Guignard, M.D. Bernard S. Kaplan, M.B., B.Ch.
Professor of Pediatric Nephrology, University of Lausanne Professor of Pediatrics and Medicine, University of Penn-
Faculty of Medicine; Head, Division of Pediatric Nephrol- sylvania School of Medicine; Director of Pediatric
ogy, University Hospital Medical Center, Lausanne, France Nephrology, The Children’s Hospital of Philadelphia,
Renal Morphogenesis and Development of Renal Function Philadelphia, Pennsylvania
Developmental Abnormalities of the Kidneys; Glomeru-
lonephropathies and Disorders of Tubular Function
Susan Guttentag, M.D.
Assistant Professor of Pediatrics, University of Pennsylva-
nia School of Medicine; Neonatologist, The Children’s
Paige Kaplan, M.B., B.Ch.
Hospital of Philadelphia, Philadelphia, Pennsylvania
Professor of Pediatrics, University of Pennsylvania School
Lung Development: Embryology, Growth, Maturation, and
of Medicine; Section Chief, Metabolic Diseases, Depart-
Developmental Biology
ment of Pediatrics, The Children’s Hospital of Philadel-
phia, Philadelphia, Pennsylvania
Shannon E. G. Hamrick, M.D.
Skeletal Dysplasias and Connective Tissue Disorders
Clinical Instructor of Pediatrics, Division of Neonatology,
University of California, San Francisco, School of Medi-
cine, San Francisco, California Rebecca A. Kazin, M.D.
Central Nervous System Injury and Neuroprotection Resident in Dermatology, Johns Hopkins Medical Institu-
tions, Baltimore, Maryland
Thomas N. Hansen, M.D. Common Newborn Dermatoses
Professor and Chairman, Department of Pediatrics, The
Ohio State University School of Medicine and Public
Thomas F. Kelly, M.D.
Health; Chief Executive Officer, Children’s Hospital,
Associate Clinical Professor of Reproductive Medicine,
Columbus, Ohio
University of California, San Diego, School of Medicine,
Control of Breathing; Pulmonary Physiology of the Newborn;
La Jolla; Director of Maternity Services, UCSD Medical
Principles of Respiratory Monitoring and Therapy; Respiratory
Center, San Diego, California
Distress in the Preterm Infant; Respiratory Failure in the Term
Maternal Medical Disorders of Fetal Significance: Seizure
Infant; Anomalies of the Airways, Mediastinum, and Lung
Disorders, Isoimmunization, Cancer, and Mental Disorders
Parenchyma; Disorders of the Chest Wall, Pleural Cavity, and
Diaphragm
Stefan Kuhle, M.D.
Margaret K. Hostetter, M.D.
Senior Registrar, Department of Neonatology, University
Professor of Pediatrics and Microbial Pathogenesis, Yale
Children’s Hospital, Tübingen, Germany
University School of Medicine; Physician-in-Chief,
Hemostatic Disorders of the Newborn
Yale–New Haven Children’s Hospital, New Haven,
Connecticut
Fungal Infections in the Neonatal Intensive Care Unit Ian A. Laing, M.A. M.D., F.R.C.P.E., F.R.C.P.Ch.
Senior Lecturer, Department of Reproductive and Devel-
Samuel C. Hughes, M.D. opmental Sciences, University of Edinburgh Faculty of
Professor of Anesthesia, University of California, San Fran- Medicine; Clinical Director, Neonatal Unit, Simpson
cisco, School of Medicine; Director, Obstetric Anesthesia, Centre for Reproductive Health, Royal Infirmary of Edin-
San Francisco General Hospital, San Francisco, California burgh, Edinburgh, United Kingdom
Maternal and Fetal Anesthesia and Analgesia Surfactant Treatment of Respiratory Disorders
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Contributors xi
Harvey L. Levy, M.D. Alma Martinez, M.D., M.P.H.
Associate Professor of Pediatrics, Harvard Medical Associate Clinical Professor of Pediatrics, San Francisco
School; Senior Associate in Medicine (Genetics), Chil- General Hospital and University of California, San Fran-
dren’s Hospital Boston, Boston, Massachusetts cisco, School of Medicine, San Francisco, California
Newborn Screening Abnormalities of Fetal Growth; Perinatal Substance Abuse
Kathryn L. Maschoff, M.D., Ph.D.
Mignon L. Loh, M.D.
Clinical Associate Professor, Department of Pediatrics,
Assistant Professor of Clinical Pediatrics, University of Cali-
University of Pennsylvania School of Medicine; Attending
fornia, San Francisco, School of Medicine; Attending Physi-
Neonatologist, The Children’s Hospital of Philadelphia
cian, UCSF Children’s Hospital, San Francisco, California
and Hospital of the University of Pennsylvania, Philadel-
Congenital Malignant Disorders
phia, Pennsylvania
Embryology and Development of the Cardiovascular
Scott A. Lorch, M.D., M.S.C.E. System
Assistant Professor, University of Pennsylvania School of
Medicine; Clinical Associate, Division of Neonatology, Patricia Massicotte, M.D., M.Sc., F.R.C.P.C.
The Children’s Hospital of Philadelphia, Philadelphia, Professor of Pediatrics, University of Alberta Faculty of
Pennsylvania Medicine; Attending Physician, Stollery Children’s Hospi-
Nonimmune Hydrops tal, Edmonton, Alberta, Canada
Hemostatic Disorders of the Newborn
Ralph A. Lugo, Pharm.D.
Katherine K. Matthay, M.D.
Associate Professor, University of Utah College of Phar-
Professor of Pediatrics, University of California, San Fran-
macy, Salt Lake City, Utah
cisco, School of Medicine; Interim Chief, Pediatric Hema-
Pharmacologic Principles and Practicalities
tology-Oncology, and Director, Pediatric Oncology, UCSF
Children’s Hospital, San Francisco, California
Geoffrey A. Machin, M.D., Ph.D. Congenital Malignant Disorders
Fetal/Genetic Pathologist, The Permanente Medical
Group, Department of Pathology, Kaiser Oakland, Oak-
William C. Mentzer, M.D.
land, California
Professor of Pediatrics Emeritus, University of California,
Placental Function and Diseases: The Placenta, Fetal Mem-
San Francisco, School of Medicine; Attending Pediatric
branes, and Umbilical Cord; Multiple Birth
Hematologist/Oncologist, University of California Medical
Center, San Francisco, California
James R. MacMahon, M.D. Erythrocyte Disorders in Infancy
Associate Professor of Pediatrics, Staff Physician, Maine
Medical Center, Portland, Maine Jeffrey D. Merrill, M.D.
Neonatal Hyperbilirubinemia Assistant Professor of Pediatrics, University of Pennsylva-
nia School of Medicine; Medical Director, Intensive Care
Nursery, Hospital of the University of Pennsylvania,
George A. Macones, M.D., M.S.C.E.
Philadelphia, Pennsylvania
Associate Professor, Department of Obstetrics and Gyne-
Resuscitation in the Delivery Room
cology, University of Pennsylvania School of Medicine;
Director, Maternal Fetal Medicine, Hospital of the Uni-
Carol A. Miller, M.D.
versity of Pennsylvania, Philadelphia, Pennsylvania
Clinical Professor, Department of Pediatrics, University
Prematurity: Causes and Prevention
of California, San Francisco, School of Medicine, San
Francisco, California
Ashima Madan, M.D. Routine Newborn Care
Associate Professor of Pediatrics, Stanford University
School of Medicine; Staff Physician, Lucile Salter Packard Lesley Mitchell, A.R.T., M.Sc.
Children’s Hospital, Stanford, California Associate Professor of Pediatrics, University of Alberta Fac-
Central Nervous System Injury and Neuroprotection; Neona- ulty of Medicine; Scientific Director, Pediatric Thrombosis
tal Hyperbilirubinemia; Disorders of the Eye
Program, Stollery Children’s Hospital, Edmonton, Alberta,
Canada
Hemostatic Disorders of the Newborn
Bradley S. Marino, M.D.
Assistant Professor of Anesthesia and Pediatrics, Univer-
sity of Pennsylvania School of Medicine; Assistant Physi- Alicia A. Moise, M.D.
cian, Division of Cardiology and Division of Critical Care Associate Professor of Clinical Pediatrics, Department of
Medicine, The Children’s Hospital of Philadelphia, Pediatrics, The Ohio State University School of Medicine
Philadelphia, Pennsylvania and Public Health; Neonatologist, Children’s Hospital,
Stabilization and Transport of the Neonate with Congenital Columbus, Ohio
Heart Disease Principles of Respiratory Monitoring and Therapy
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xii Contributors
Thomas J. Mollen, M.D. Elvira Parravicini, M.D.
Instructor, University of Pennsylvania School of Medicine; Assistant Professor of Clinical Pediatrics, Columbia Univer-
Clinical Associate, The Children’s Hospital of Philadel- sity College of Physicians and Surgeons; Assistant Clinical
phia, Philadelphia, Pennsylvania Attending, Children’s Hospital of New York–Presbyterian,
Nonimmune Hydrops New York, New York
Bacterial Sepsis and Meningitis; Neonatal Leukocyte Physiol-
ogy and Disorders
Timothy P. Monahan, M.A., M.D.
Resident in Dermatology, Johns Hopkins Hospital, Balti-
J. Colin Partridge, M.D., M.P.H.
more, Maryland
Clinical Professor, University of California, San Francisco,
Congenital and Hereditary Disorders of the Skin
School of Medicine; Attending Neonatologist, San Fran-
cisco General Hospital, San Francisco, California
Thomas R. Moore, M.D.
Perinatal Substance Abuse
Professor and Chairman, Department of Reproductive
Medicine, University of California, San Diego, School of
Dan Poenaru, M.D., M.H.P.E., F.R.C.S.C., F.A.C.S.,
Medicine; Faculty Physician, UCSD Medical Center, San
F.I.C.S.
Diego, California
Adjunct Associate Professor of Surgery and Pediatrics,
Endocrine Disorders in Pregnancy; Maternal Medical Disor-
Queen’s University Faculty of Health Sciences, Kingston,
ders of Fetal Significance: Seizure Disorders, Isoimmunization,
Cancer, and Mental Disorders; Hypertensive Complications of Ontario, Canada; Medical Education and Research Direc-
Pregnancy; Antepartum Fetal Assessment tor, AIC Kijabe Hospital, Kijabe, Kenya
Structural Anomalies of the Gastrointestinal Tract; Abdomi-
nal Wall Problems; Necrotizing Enterocolitis and Short Bowel
Louis J. Muglia, M.D., Ph.D. Syndrome
Associate Professor of Pediatrics, Molecular Biology and
Pharmacology, and Obstetrics and Gynecology, Washing-
Brenda B. Poindexter, M.D.
ton University School of Medicine; Attending Physician,
Assistant Professor of Pediatrics, Indiana University School
St. Louis Children’s Hospital, St. Louis, Missouri
of Medicine; Attending Neonatologist, James Whitcomb
Disorders of the Adrenal Gland
Riley Hospital for Children, Indianapolis, Indiana
Parenteral Nutrition
Robert M. Nelson, M.D., Ph.D.
Associate Professor of Anesthesia and Pediatrics, Uni-
Richard A. Polin, M.D.
versity of Pennsylvania School of Medicine; Attending
Professor of Pediatrics, Columbia University College of
Physician, Anesthesiology and Critical Care Medicine,
Physicians and Surgeons; Director, Division of Neonatol-
The Children’s Hospital of Philadelphia, Philadelphia,
ogy, Children’s Hospital of New York–Presbyterian, New
Pennsylvania
York, New York
Ethical Decisions in the Neonatal-Perinatal Period
Bacterial Sepsis and Meningitis
Thomas B. Newman, M.D., M.P.H.
Daniel H. Polk, M.D.
Professor of Epidemiology and Biostatistics, Departments
Professor of Pediatrics, Northwestern University Fein-
of Epidemiology and Biostatistics and Pediatrics, Univer-
berg School of Medicine; Vice Chief, Division of Neona-
sity of California, San Francisco, School of Medicine;
tology, Children’s Memorial Hospital, Chicago, Illinois
Attending Physician, Well Baby Nursery, UCSF Medical
Disorders of the Thyroid Gland
Center, San Francisco, California
Routine Newborn Care
DeWayne M. Pursley, M.D., M.P.H.
Assistant Professor of Pediatrics, Harvard Medical School;
Eugenia K. Pallotto, M.D.
Neonatologist in Chief, Beth Israel Deaconess Medical
Assistant Professor of Pediatrics, University of
Center, Boston, Massachusetts
Missouri–Kansas City School of Medicine; Attending
Impact of the Human Genome Project on Neonatal Care
Physician, Section of Neonatology, Department of Pedi-
atrics, Children’s Mercy Hospitals and Clinics, Kansas
Rangasamy Ramanathan, M.D.
City, Missouri
Professor of Clinical Pediatrics, University of Southern
Disorders of Carbohydrate Metabolism
California Keck School of Medicine; Associate Division
Chief and Section Head, USC Division of Neonatology;
Erica S. Pan, M.D., M.P.H. Director, Neonatal-Perinatal Medicine Fellowship Pro-
Clinical Instructor, University of California, San Fran- gram, and Director, NICU Women’s and Children’s
cisco, School of Medicine; Director, Bioterrorism and Hospital, LAC ⫹ USC Women’s and Children’s Hospi-
Emerging Infections Unit, Community Health Epidemi- tal and Children’s Hospital Los Angeles, Los Angeles,
ology and Disease Control, San Francisco Department of California
Public Health, San Francisco, California Acid-Base, Fluid, and Electrolyte Management; Renal Vascu-
Viral Infections of the Fetus and Newborn lar Disease in the Newborn
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Contributors xiii
Daniela Ramierez-Schrempp, M.D. Pablo J. Sánchez, M.D.
Clinical Assistant Instructor in Pediatrics, State University Professor of Pediatrics, Division of Neonatal-Perinatal Med-
of New York; Children’s Hospital at Downstate Medical icine and Division of Pediatric Infectious Diseases, Depart-
Center, Brooklyn, New York ment of Pediatrics, University of Texas Southwestern
Surfactant Treatment of Respiratory Disorders Medical Center; Attending Physician, Parkland Memorial
Hospital and Children’s Medical Center, Dallas, Texas
Toxoplasmosis, Syphilis, Malaria, and Tuberculosis
Joan A. Regan, M.D.†
Formerly Associate Professor of Clinical Pediatrics,
Harvey B. Sarnat, M.D., F.R.C.P.C.
Columbia University College of Physicians and Surgeons,
Professor of Pediatrics (Neurology) and Pathology (Neu-
and Associate Clinical Attending, Children’s Hospital of
ropathology), David Geffen School of Medicine at UCLA;
New York–Presbyterian, New York, New York
Director, Division of Pediatric Neurology, Neuropatholo-
Bacterial Sepsis and Meningitis
gist, and Director, Neuromuscular Pathology Laboratory,
Cedars-Sinai Medical Center, Los Angeles, California
Neonatal Neuromuscular Disorders
Elisabeth G. Richard, M.D.
Resident in Dermatology, Johns Hopkins Medical Institu-
Richard J. Schanler, M.D.
tions, Baltimore, Maryland
Professor of Pediatrics, Albert Einstein College of Medicine
Infections of the Skin
of Yeshiva University, Bronx; Chief, Neonatal-Perinatal
Medicine, Schneider Children’s Hospital at North Shore,
Richard L. Robertson, M.D. North Shore University Hospital, Manhasset, New York
Assistant Professor of Radiology, Harvard Medical School; Enteral Nutrition for the High-Risk Neonate
Director of Neuroradiology, Children’s Hospital Boston,
Boston, Massachusetts Mark S. Scher, M.D.
Neonatal Neuroimaging Professor of Pediatrics and Neurology, Case Western
Reserve University School of Medicine; Division Chief,
Pediatric Neurology, and Director, Pediatric Sleep/Epilepsy
Mark A. Rosen, M.D.
and Fetal/Neonatal Neurology Programs, Rainbow Babies
Professor of Anesthesia and Obstetrics, Gynecology, and
and Children’s Hospital, University Hospitals of Cleveland,
Reproductive Sciences, University of California, San
Cleveland, Ohio
Francisco, School of Medicine; Director, Obstetric Anes-
Neonatal Seizures
thesia, University Hospitals (Moffitt-Long), San Francisco,
California
Istvan Seri, M.D., Ph.D.
Maternal and Fetal Anesthesia and Analgesia
Professor of Pediatrics, University of Southern California
Keck School of Medicine; Head, USC Division of Neona-
Lewis P. Rubin, M.Phil., M.D. tal Medicine, and Medical Director, Institute of Maternal
Associate Professor of Pediatrics and Co-Director, Pro- and Fetal Health, Children’s Hospital Los Angeles and
gram in Fetal Medicine, Brown Medical School; Staff the LAC ⫹ USC Women’s and Children’s Hospital, Los
Neonatologist, Women and Infants Hospital of Rhode Angeles, California
Island, Providence, Rhode Island Acid-Base, Fluid, and Electrolyte Management; Cardiovascu-
Embryology, Developmental Biology, and Anatomy of the lar Compromise in the Newborn Infant; Clinical Evaluation of
Endocrine System; Disorders of Calcium and Phosphorus Renal and Urinary Tract Disease; Acute and Chronic Renal Fail-
Metabolism ure; Renal Vascular Disease in the Newborn
Elaine C. Siegfried, M.D.
Jack Rychik, M.D., F.A.C.C. Associate Clinical Professor of Pediatrics and Dermatology,
Associate Professor of Pediatrics, University of Pennsylva- Saint Louis University School of Medicine; Staff Physician,
nia School of Medicine; Medical Director, The Fetal Cardinal Glennon Children’s Hospital, St. Louis, Missouri
Heart Program, Division of Cardiology, The Children’s Newborn Skin: Development and Basic Concepts; Congenital
Hospital of Philadelphia, Philadelphia, Pennsylvania and Hereditary Disorders of the Skin; Infections of the Skin;
Echocardiography in the Neonatal Intensive Care Unit Common Newborn Dermatoses; Cutaneous Congenital Defects
Gary A. Silverman, M.D., Ph.D.
Sulagna C. Saitta, M.D., Ph.D.
Associate Professor of Pediatrics, Harvard Medical
Assistant Professor of Pediatrics, University of Pennsylva-
School; Children’s Hospital, Boston, Massachusetts
nia School of Medicine; Attending Physician, Division of
Impact of the Human Genome Project on Neonatal Care
Human Genetics, The Children’s Hospital of Philadel-
phia, Philadelphia, Pennsylvania
Rebecca Simmons, M.D.
Evaluation of the Dysmorphic Infant; Specific Chromosome
Assistant Professor of Pediatrics, University of Pennsylva-
Disorders in Newborns
nia School of Medicine; Attending Neonatologist, The
Children’s Hospital of Philadelphia and Hospital of the
University of Pennsylvania, Philadelphia, Pennsylvania
†Deceased. Abnormalities of Fetal Growth
FM00-001-024 6/11/04 8:28 PM Page xiv
xiv Contributors
Susan Sniderman, M.D. Janet A. Thomas, M.D.
Assistant Professor of Pediatrics, University of Colorado
Professor of Pediatrics, Chief, Neonatal Service, San
School of Medicine; Director, Inherited Metabolic Dis-
Francisco General Hospital, University of California-San
eases Clinic, University of Colorado Health Sciences Cen-
Francisco, San Francisco, California
ter and The Children’s Hospital, Denver, Colorado
Initial Evaluation: History and Physical Examination of the
Newborn Lysosomal Storage, Peroxisomal, and Glycosylation Disorders
and Smith-Lemli-Opitz Syndrome Presenting in the Neonate
Thomas L. Spray, M.D.
Alice Langdon Warner Professor of Surgery, University of Tivadar Tulassay, M.D., D.Sc.
Pennsylvania School of Medicine; Chief, Division of Car- President, Semmelweis University Budapest; Professor and
diothoracic Surgery, The Children’s Hospital of Philadel- Chair, Department of Pediatrics, Semmelweis University
phia, Philadelphia, Pennsylvania Budapest Faculty of Medicine, Budapest, Hungary
Management of Congenital Heart Disease in the Low-Birth- Acute and Chronic Renal Failure; Renal Vascular Disease in
Weight Infant the Newborn
Charles A. Stanley, M.D. Carmella van de Ven, M.A.
Chief, Division of Endocrinology/Diabetes, The Children’s Senior Staff Associate, Columbia University College of
Hospital of Philadelphia, Philadelphia, Pennsylvania Physicians and Surgeons, New York, New York
Disorders of Carbohydrate Metabolism Neonatal Leukocyte Physiology and Disorders
David K. Stevenson, M.D. Betty R. Vohr, M.D.
Harold K. Faber Professor of Pediatrics and Senior Asso- Professor of Pediatrics, Brown Medical School; Director,
ciate Dean for Academic Affairs, Stanford University Neonatal Follow-up Clinic, Women and Infants Hospital
School of Medicine; Director, Charles B. and Ann L. of Rhode Island, Providence, Rhode Island
Johnson Center for Pregnancy and Newborn Services, Perinatal-Neonatal Epidemiology
and Chief, Division of Neonatal and Developmental Med-
icine, Lucile Salter Packard Children’s Hospital, Stanford,
Robert M. Ward, M.D.
California
Professor of Pediatrics, Department of Pediatrics, Division
Neonatal Hyperbilirubinemia
of Neonatology, University of Utah College of Medicine;
Director, Pediatric Pharmacology Program, University of
Barbara J. Stoll, M.D. Utah Hospital, Salt Lake City, Utah
Professor of Pediatrics and Interim Chair, Department of Pharmacologic Principles and Practicalities; Appendix 1:
Pediatrics, Emory University School of Medicine, Atlanta, Drugs
Georgia
Nosocomial Infections in the Nursery
Peggy Sue Weintrub, M.D.
Clinical Professor, Department of Pediatrics, University
H. William Taeusch, M.D. of California, San Francisco, School of Medicine; Chief,
Professor and Vice Chair, Department of Pediatrics, Uni- Division of Pediatric Infectious Diseases, USCF Medical
versity of California, San Francisco, School of Medicine; Center, San Francisco, California
Chief, Pediatric Service, San Francisco General Hospital, Viral Infections of the Fetus and Newborn
San Francisco, California
Perinatal Substance Abuse; Initial Evaluation: History and
Stephen Welty, M.D.
Physical Examination of the Newborn; Bacterial Sepsis and
Associate Professor, Department of Pediatrics, The Ohio
Meningitis; Surfactant Treatment of Respiratory Disorders
State University School of Medicine and Public Health;
Chief, Section of Neonatology, Department of Pediatrics,
Peter Tarczy-Hornoch, M.D.
Children’s Hospital, Columbus, Ohio
Associate Professor, Division of Neonatology, Department
Respiratory Distress in the Preterm Infant
of Pediatrics, and Associate Professor and Head, Division
of Biomedical and Health Informatics, University of
Washington School of Medicine, Seattle, Washington Gil Wernovsky, M.D.
Evaluation of Therapeutic Recommendations, Database Man- Professor of Pediatrics, University of Pennsylvania School
agement, and Information Retrieval of Medicine; Director of Program Development, The
Cardiac Center, The Children’s Hospital of Philadelphia,
Philadelphia, Pennsylvania
George A. Taylor, M.D.
Stabilization and Transport of the Neonate with Congenital
John A. Kirkpatrick Professor of Radiology, Harvard Med-
Heart Disease; Common Congenital Heart Disease: Presenta-
ical School; Radiologist-in-Chief and Chairman, Depart-
tion, Management, and Outcomes; Management of Congenital
ment of Radiology, Children’s Hospital Boston, Boston, Heart Disease in the Low-Birth-Weight Infant; Long-Term
Massachusetts Neurologic Outcomes in Children with Congenital Heart
Neonatal Neuroimaging Disease
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Contributors xv
Calvin B. Williams, M.D., Ph.D. Elaine H. Zackai, M.D.
Associate Professor of Pediatrics, Associate Professor of Director, Clinical Genetics, Department of Clinical Genet-
Microbiology and Molecular Genetics, Section Chief, ics, The Children’s Hospital of Philadelphia, Philadelphia,
Pediatric Rhenumatology, and D.B. and Marjorie Reinhart Pennsylvania
Family Foundation Chair in Rhenumatology, Medical Col- Evaluation of the Dysmorphic Infant; Specific Chromosome
lege of Wisconsin; Attending Physician, Children’s Hospital Disorders in Newborns
of Wisconsin, Milwaukee, Wisconsin
Immunology of the Fetus and Newborn Stephen A. Zderic, M.D.
Associate Professor of Urology, University of Pennsylvania
Linda L. Wright, M.D. School of Medicine; Associate Surgeon, Department of
Pregnancy and Perinatology Branch, Center for Research Urology, The Children’s Hospital of Philadelphia, Philadel-
for Mothers and Children, National Institute of Child phia, Pennsylvania
Health and Human Development, Rockville, Maryland Developmental Abnormalities of the Genitourinary System;
Perinatal-Neonatal Epidemiology Urinary Tract Infections and Vesicoureteral Reflux
Alison Z. Young, M.D.
Resident, Department of Dermatology, Johns Hopkins
Hospital, Baltimore, Maryland
Cutaneous Congenital Defects
FM00-001-024 6/11/04 8:28 PM Page xvii
Preface
Dr. Alexander Shaffer, a noted Baltimore pediatrician and joined Avery for the fifth edition, and Ballard, for the sixth
a former chief resident in pediatrics at Johns Hopkins in 1991, with the addition of Gleason for this edition.
Hospital, wrote the first edition of Diseases of the New- The need for updating and revision is constant. Despite
born, which was published in 1960. At that time, he rec- the use of the Internet for the latest knowledge, textbooks of
ognized that the care of newborns would become a neonatology, along with even more “subspecialized” books,
subspecialty, which he termed neonatology. Composed lie dog-eared, broken-spined, and coffee-stained on count-
from extensive case records, his book was of use mainly less conference room tables where caregivers congregate in
for diagnosis but included reference to the work of many nurseries. In looking over past editions, we note not that
who, with difficulty, studied the needs of newborns by what was said was wrong but that the right things were not
applying techniques developed by such physiologists and said as extensively, or as insightfully, or as clearly, as we now
biochemists as Barcroft and Gamble, who were fascinated understand them. This edition has been completely and
by complexities of the fetus and newborn. The senior edi- often painfully revised by some of the best clinicians/investi-
tor of this edition had the opportunity to see Dr. Shaffer gators in the field. They did this despite the demands of
diagnose the extent of an empyema in a 1-week-old infant their day jobs in the hopes that their syntheses could, as
by gentle percussion of the chest. This disease (thank- Ethel Dunham wrote, “spread more widely what is already
fully) and this technique (regretfully) are now much less known, . . . and make it possible to apply these facts,” as well
commonly observed. Many of the great names in pedi- as stimulating the search for new knowledge.
atrics were contemporaries of Shaffer, and they, too, wed This edition is notable for its breadth—from the classic
careful observation of newborns to clinical research in history and physical examination of a full-term newborn
neonatology: Ethel Dunham, Warkany, Gamble, Gordon, to the details of tiny DNA perturbations that result in
Julius Hess, Levine, Clement Smith, Taussig, Diamond, lethal problems after birth. There are new sections on
Lubchenco, Rudolph, James, Apgar, and Silverman. With genetics and prenatal diagnosis. Eighty-four new authors
the use mainly of antibiotics, warmth, and attention to contributed to this edition, and every section of the book
feeding techniques, the infant mortality rate in the United has been updated. New diagnostic and therapeutic tech-
States dropped from 47/1000 live births in 1940 to 26/1000 niques are included for virtually every organ system, along
in 1960. with countless other changes to this new edition. Thanks
Shaffer’s book preceded the advent of ventilator man- to the newest member of our editorial team, Christine
agement of newborn infants that, coupled with micro blood Gleason, the neurology section has been thoroughly
gas analysis and expertise in the use of umbilical artery updated; Gil Wernovsky, working with Roberta Ballard,
catheterization, led to the development of neonatal inten- has done the same for the cardiology section. The discus-
sive care for newborns in the 1960s on both sides of the sion of eye disorders has been expanded to include struc-
Atlantic. Advances in neonatal surgery and cardiology and tural defects, transient motility disorders, and infection, as
further developments in technology paralleled the rise of well as retinopathy of prematurity. An excellent new sec-
neonatal intensive care units (NICUs) and regionalization tion on nutrition has been added, as has a discussion of
of care for sick newborn infants. Some of the leaders in fetal origins of adult disease.
North America were Stahlman in Nashville; Tooley and col- In the era of sudden infant death syndrome (SIDS) pre-
leagues in San Francisco; Avery in Baltimore; Auld in New vention, fetal diagnosis of anomalies and genetic disorders,
York; Usher and Stern in Montreal; Swyer in Toronto; Oh surfactant therapy, and improved techniques for cardiores-
and Hodgman in Los Angeles; Battaglia, Meschia, and But- piratory support, the infant mortality rate for 2002 was
terfield in Denver; Sinclair in Hamilton; Sunshine in Palo 6.9/1000. Huge areas remain frustratingly intractable, how-
Alto; and Lucey in Burlington. ever. Premature birth rates have increased. The problems of
Mary Ellen Avery joined Shaffer for the third edition of fetal exposure to addicting drugs and intoxicants remain
this book in 1971. A further drop in the infant mortality ever present. Common germs are brilliantly adaptable in the
rate occurred by 1974, to 16.5/1000 live births. By 1977 and face of formidable anti-infectives. Garden-variety problems
the fourth edition, the need for multiple contributors with of the NICU such as chronic lung disease, recurrent apneas,
subspecialty expertise was clear. In the preface for that edi- retinopathy, necrotizing enterocolitis, intracranial bleeding,
tion, Shaffer wrote, “We have also seen the application of and hypoxic ischemic encephalopathy continue to impair
some fundamental advances in molecular biology to the the well-being of thousands of infants each year. Problems
management of our fetal and newborn patients.” At that so simple they are almost silly remain unsolved (what’s a safe
time he was referring to the new knowledge of hemoglo- level of bilirubin? of blood glucose?). Basic questions con-
binopathies. In 1981, Shaffer died at the age of 79. Taeusch cerning the nature of growth and development remain, and
xvii