Fetal Anomalies Ultrasound Diagnosis and Postnatal Management Max Maizels, M.D.
Transcription
Fetal Anomalies Ultrasound Diagnosis and Postnatal Management Max Maizels, M.D.
Fetal Anomalies Ultrasound Diagnosis and Postnatal Management Max Maizels, M.D. Children’s Memorial Hospital Division of Urology Department of Urology Northwestern University Medical School Chicago, IL Bettina F. Cuneo, M.D. The Heart Institute for Children University of Illinois Medical School Chicago, IL Rudy E. Sabbagha, M.D. Department of OB/GYN Northwestern University Medical School Chicago, IL A JOHN WILEY & SONS, INC., PUBLICATION Fetal Anomalies Fetal Anomalies Ultrasound Diagnosis and Postnatal Management Max Maizels, M.D. Children’s Memorial Hospital Division of Urology Department of Urology Northwestern University Medical School Chicago, IL Bettina F. Cuneo, M.D. The Heart Institute for Children University of Illinois Medical School Chicago, IL Rudy E. Sabbagha, M.D. Department of OB/GYN Northwestern University Medical School Chicago, IL A JOHN WILEY & SONS, INC., PUBLICATION This book is printed on acid-free paper. 䡬 ⬁ Copyright 䉷 2002 by Wiley-Liss, Inc., New York. All rights reserved. Published simultaneously in Canada. No part of this publication may be reproduced, stored in a retrieval system or transmitted in any form or by any means, electronic, mechanical, photocopying, recording, scanning or otherwise, except as permitted under Sections 107 or 108 of the 1976 United States Copyright Act, without either the prior written permission of the Publisher, or authorization through payment of the appropriate per-copy fee to the Copyright Clearance Center, 222 Rosewood Drive, Danvers, MA 01923, (978) 750-8400, fax (978) 750-4744. Requests to the Publisher for permission should be addressed to the Permissions Department, John Wiley & Sons, Inc., 605 Third Avenue, New York, NY 10158-0012, (212) 850-6011, fax (212) 850-6008, E-Mail: [email protected]. For ordering and customer service, call 1-800-CALL-WILEY. Library of Congress Cataloging-in-Publication Data: Fetal anomalies : ultrasound diagnosis and postnatal management / edited by Max Maizels, Bettina Cuneo, Rudy E. Sabbagha. p. cm. Includes bibliographical references and index. ISBN 0-471-38052-0 (cloth : alk. paper) 1. Fetus—Abnormalities—Ultrasonic imaging. 2. Fetus—Diseases—Diagnosis. 3. Ultrasonics in obstetrics. 4. Postnatal care. I. Maizels, Max. II. Cuneo, Bettina. III. Sabbagha, Rudy E. [DNLM: 1. Abnormalities—ultrasonography. 2. Fetal Diseases—diagnosis. 3. Postnatal Care. 4. Ultrasonography, Prenatal. WQ 209 F4191 2001] RG628.3.U58 F47 2001 618.3⬘207543—dc21 00-043433 Printed in the United States of America. 10 9 8 7 6 5 4 3 2 1 The authors dedicate this book to the families who will come to learn of an ultrasound finding in their unborn baby. Contents Preface xi Acknowledgments xiii Contributors xv Abbreviations xvii 1 The First Trimester of Pregnancy—Rudy E. Sabbagha, M.D. 1.1 1.2 1.3 1.4 2 The 10- to 14-Week Scan—Rudy E. Sabbagha, M.D. 2.1 3 First Trimester Detection of Aneuploidy and Fetal Anomalies Detection of Trisomies 21 and 18—Rudy E. Sabbagha, M.D. 3.1 3.2 3.3 4 Pregnancy Dates Multiple Pregnancy Abnormal First Trimester Pregnancies Early Detection of Fetal Anomalies The Likelihood Ratio and the Multiple Marker Screen Trisomy 21 Trisomy 18 The Fetal Face and Neck Section 4A. 4A.1 4A.2 Section 4B. Evaluation of the Fetal Face and Neck—Rudy E. Sabbagha, M.D. The Face The Neck Correlative Presurgical and Postsurgical Treatment of Fetal Face and Neck Abnormalities—Jay M. Pensler, M.D. 4B.1 Cleft Lip and Palate 4B.2 Other Abnormalities vii 1 1 1 7 11 15 15 21 21 22 27 31 31 31 37 43 43 45 viii 5 CONTENTS The Fetal Central Nervous System Section 5A. 5A.1 5A.2 5A.3 5A.4 5A.5 5A.6 5A.7 Section 5B. 5B.1 5B.2 5B.3 Section 5C. 5C.1 5C.2 Section 5D. 5D.1 5D.2 5D.3 5D.4 6 The Fetal Chest and Abdomen—Rudy E. Sabbagha, M.D. 6.1 6.2 7 The Normal Urinary Tract Urinary Tract Ectasia Development of the Urinary Tract Multicystic Kidney Disease Nonspecific Pyelectasis Hydronephrosis Megaureter Ectopic Ureter Ureterocele Nonspecific Bladder Dilation and Megacysts Vesicoureteral Reflux Posterior Urethral Valves Prune Belly Syndrome Diagnosis of Fetal Structural Genital Anomalies— D. Preston Smith, M.D., F.A.A.P., F.A.C.S. 8.1 8.2 9 The Chest The Abdomen The Fetal Urinary Tract—Max Maizels, M.D. 7.1 7.2 7.3 7.4 7.5 7.6 7.7 7.8 7.9 7.10 7.11 7.12 7.13 8 The Head—Rudy E. Sabbagha, M.D. Evaluation of the Fetal Brain Abnormal Head Size Abnormal Lobe Development Cysts Abnormal Corpus Callosum Abnormal Posterior Fossa and Cisterna Magna Other Abnormal Brain Findings The Spine—Rudy E. Sabbagha, M.D. Evaluation of Spina Bifida The Parasagittal Lower Spine Sacrococcygeal Teratoma Spina Bifida: Urologic Aspects—William E. Kaplan, M.D. Diagnosis During Second Trimester Diagnosis During the Third Trimester Spina Bifida: Orthopaedic Aspects Orthotics Ambulatory Status Spine Deformities Foot Deformities Normal Development Anomalous Development Polycystic Kidney Disease and Renal Transplantation— Richard Cohn, M.D., and Casimir F. Firlit, M.D. Ph.D. Section 9A. 9A.1 9A.2 9A.3 9A.4 Autosomal Recessive Polycystic Kidney Disease Clinical Forms Fetal Diagnosis Newborn Management Dilemma of Fetal Diagnosis 47 47 47 50 54 54 57 60 63 65 65 68 68 70 70 74 75 75 76 76 76 81 81 85 93 93 94 96 100 103 111 130 136 136 138 140 153 157 163 163 165 169 169 169 170 171 171 CONTENTS 10 Section 9B. Autosomal Dominant Polycystic Kidney Disease Section 9C. Renal Transplantation 9C.1 Renal Replacement Therapy 9C.2 Surgery 9C.3 Postoperative Care 172 173 173 173 174 The Fetal Heart—Bettina F. Cuneo, M.D., and Michael Ibawi, M.D. 177 177 181 192 212 221 229 231 235 238 238 10.1 10.2 10.3 10.4 10.5 10.6 10.7 10.8 10.9 10.10 11 Index Approach to the Fetal Heart Abnormalities of the Left Heart Abnormalities of the Right Heart Conotruncal Cardiac Defects Abnormalities of the Ventriculoarterial Connections Double-Inlet Ventricle Abnormalities of the Septum Miscellaneous Lesions Heterotaxy Abnormalities of Cardiac Rhythm Skeletal Dysplasias and Musculo-Skeletal Abnormalities— Rudy E. Sabbagha, M.D. 11.1 11.2 11.3 11.4 11.5 11.6 11.7 11.8 11.9 12 ix Evaluation of Skeletal Dysplasias Common Dysplasias Rhizomelic Dysplasias Mesomelic and Acromelic Dysplasias Small Chest Dysplasias Affecting Metabolic Processes and Connective Tissue Dysplasias Affecting The Radius and Face Contractures Other Skeletal and Musculoskeletal Abnormalities Pediatric Anesthesia—Steven C. Hall, M.D. 247 247 247 258 258 261 261 263 263 264 271 275 Preface The field of health care for obstetricians and pediatricians is being reshaped by impressive advances in ultrasound technology that directly enhance fetal imaging. Thus, in many cases, the distinction between the normal and the abnormal fetus may be accomplished by the early part of the second trimester of pregnancy. Such fetuses are subsequently monitored closely, until the final diagnosis is made or specific ramifications honed, usually by mid-pregnancy. The ultrasound recognition of abnormal fetal findings, whether in the early or mid-second trimester, has raised new challenges including the need for a multi-disciplinary approach to diagnosis, management and appreciation of outcome. To day the combined effort of the ultrasonographer, the obstetrician, the specialist in maternal-fetal-medicine, and the geneticist, is needed to explain to the pregnant woman not only how the anomaly impacts the remainder of the current pregnancy, including timing and mode of delivery, but also how the anomaly affects future pregnancies. In addition, the input of the neonatologist and the pediatric specialist, with expertise in the anomaly diagnosed, is required to effectively shape the management in the neonatal period and beyond. In fact, pediatricians are now called upon during the pregnancy not only to counsel the parents regarding the optimal treatment of the neonate and infant, but to also discuss prognosis. In the case of a cardiac defect the pediatric cardiologist is expected to scan the fetus and perform blood flow studies. In this way a more precise diagnosis can be made, one that results in a more effective treatment plan. The Institute for the Unborn Baby (IUB) emerged as a consortium of obstetrical, genetic, and pediatric specialists. The joint goal of these physicians is to equip the prospective parents with the latest medical information regarding the anomaly on hand. Regular meetings of the IUB members are carried out to discuss the diagnosis and management of fetuses and newborns with various abnormalities diagnosed in the various institutions within the Chicago area. Every two years national scientific meetings are also sponsored by the educational arm of the IUB and are designed to update health care providers about advances in this rapidly evolving field. The idea of the publication Fetal Anomalies: Ultrasound Diagnosis and Postnatal Management stemmed from the various meetings held by the IUB. The purpose of this book is to illustrate, in a concise manner, the latest developments in the field of diagnostic ultrasound and the emerging necessity of a multi-disciplinary approach to optimize fetal and infant care. Max Maizels, M.D. Bettina F. Cuneo, M.D. Rudy E. Sabbagha, M.D. xi Acknowledgments The authors acknowledge the help and support of their families during the course of setting up the IUB and during the integration of this manuscript Evelyn and Michael Maizels Asma Sabbagha Max, Nathaniel, and Rosie Cuneo-Grant The authors give special recognition to Ms. Mary Conty who has coordinated numerous administrative details in the preparation of this atlas and over the years in the clinical and educative activities of the IUB (her picture is shown at www.iub.org). Dr. Maizels is delighted to give special recognition to Mrs. Dayle Eckdahl, O.R.T., who has scrubbed alongside him in the operating room for a decade (see Figure 12.4A) and to Dr. Casey Firlit for his behind-the-scenes support and brainstorming over the years. Evelyn Maizels’s camera-shy hand is shown in Figure 7.64. Drs. Cuneo and Ibawi acknowledge the contribution of Rachid F. Idriss, whose superb illustrations of cardiac anatomy are found in Chapter 10. The authors gratefully acknowledge the following individuals: Steven Ambrose, M.D., René Arcilla, M.D., Jean-Pierre Batau, B.S.N., R.D.M.S., Jason Birnholz, M.D., Teresa Chyczewski, R.N., R.D.M.S., James J. Conway, M.D., Sharon DalCompo, B.A., R.D.M.S., M.J., James S. Donaldson, M.D., C. Elise Duffy, M.D., Concepcion DyReyes, M.D., Sandra K. Fernbach, M.D., Helena Gabriel, M.D., Simka Miljkovic, R.D.M.S., Mershon Garrett, R.D.M.S., Daniel W. Gauthier, M.D., Irene J. Fitzgerald, R.N., B.S.N., Nawar Hatoum, M.D., F.A.C.O.G., Yves L. Homsy, M.D., F.R.C.S.C., F.A.A.P., James D. Keller, M.D., Scott N. MacGregor, D.O., James Meserow, M.D., F.A.C.O.G., F.A.C.S., Joanne Mota, R.T., R.D.M.S., Barbara V. Parilla, M.D., Elizabeth Glimco, R.T., R.D.M.S., Michael R. Pins, M.D., Maureen Pullen, B.A., R.D.M.S., Zubie Sheikh, M.B., R.D.M.S., Arnold A. Shkolnik, M.D., George Steinhardt, M.D., Shiraz Sunderji, M.D., Ralph K. Tamura, M.D., Stephanie A. Young, M.D., and Antonio Zaccara, M.D. xiii Contributors Richard Cohn, M.D. Medical Director, Kidney Transplantation Associate Professor of Pediatrics Children’s Memorial Hospital Northwestern University Medical School Chicago, IL Casimir F. Firlit, M.D., Ph.D. Head, Division of Pediatric Urology Director, Pediatric Renal Transplantation Professor of Urology Children’s Memorial Hospital Northwestern University Medical School Chicago, IL Steven C. Hall, M.D. Arthur C. King Professor of Peditaric Anesthesia Anesthesiologist-in-Chief Professor, Department of Anesthesiology and Critical Care Children’s Memorial Hospital Northwestern University Medical School Chicago, IL William E. Kaplan, M.D. Professor of Urology Children’s Memorial Hospital Northwestern University Medical School Chicago, IL Jay M. Pensler, M.D. Associate Professor of Clinical Plastic Surgery Northwestern University Medical School Chicago, IL Todd E. Simmons, M.D. Assistant Professor of Orthopaedic Surgery Northwestern University Medical School Chicago, IL D. Preston Smith, M.S., F.A.A.P., F.A.C.S. Assistant Professor of Surgery and Pediatrics Division of Urology University of Tennessee Medical Center Knoxville, TN Michael Ibawi, M.D. Director of Pediatric Cardiothoracic Surgery and Associate Director The Heart Institute for Children Associate Professor of Surgery Northwestern University Medical School Chicago, IL xv Abbreviations La LV RA RV St A P AAO dao PV MV TV left atrium left ventricle right atrium right ventricle stomach anterior posterior ascending aorta descending aorta pulmonary veins mitral valve tricuspid valve MB IVS I c s ivc rvot d PFO ASD VSD AV xvii modular band intraventricular septum innominate artery carotid artery subclavicular artery inferior vena cava right ventricular outflow tract ductus arteriosus patent foramen ovale atrial septal defect ventricular septal defect atrioventricular 1 COLOR FIGURES Figure 4a.4a Figure 4a.4b Figure 4a.4c Figure 5a.6e 2 COLOR FIGURES Figure 5a.11c Figure 6.9c Figure 6.9d 3 COLOR FIGURES Figure 7.22 Figure 7.26g Figure 7.26f right left 5 Figure 7.75ab Figure 7.78ab 6 4 COLOR FIGURES Figure 7.86abc Figure 10.19c Figure 10.19e Figure 10.20b 5 COLOR FIGURES Figure 10.20c Figure 10.23 Figure 10.25a Figure 10.25g 6 COLOR FIGURES Figure 10.25m Figure 10.25n Figure 10.26b Figure 10.38 Figure 10.39a 7 COLOR FIGURES Figure 10.43c Figure 10.44b Figure 10.44d Figure 10.49c Figure 10.69a 8 COLOR FIGURES Figure 10.69c Figure 10.98a Figure 10.98f 1 THE FIRST TRIMESTER OF PREGNANCY Rudy E. Sabbagha, M.D. Northwestern University Medical School Chicago, IL 1.1 senting before 28 weeks’ gestation is associated with 80 to 100% perinatal mortality, different management options have become available. Endoscopic surgery in different centers carries a survival rate of 55% for both fetuses and 70% for one survivor. With serial amniocenteses, survival ranges from 57 to 83%. However, in one series, 36% of the survivors had cerebral palsy. In another series, 29% of the survivors had a porencephalic cyst. In an ongoing series of 130 cases treated with laser coagulation of placental anastomoses, the incidence of neurologic impairment was <5%. A reversed arterial perfusion or TRAP sequence can also occur in MC/MA twin pregnancies. The underlying mechanism is thought to be the development of an artery-to-artery anastomosis that siphons blood from the twin with the higher blood pressure to the twin with the lower blood pressure. This results in reverse blood flow of deoxygenated blood through the umbilical arteries and, in turn, through the iliac arteries into the lower body of the co-twin. As a result, varying degrees of upper body reduction anomalies occur, including acardia. Perinatal mortality of the ‘‘pump’’ twin and of the acardiac twin is high (50% and 100%, respectively). The diagnosis has been reported as early as 13 weeks’ gestation with successful umbilical cord coagulation of the acardiac twin. This was achieved by means of an ultrasoundguided operative microendoscope, allowing the PREGNANCY DATES The fetal crown-rump length (CRL) ranging from 2 to 84 mm, is used to assign dates from 5⫹ to 136/7 weeks of pregnancy (Table 1.1 and Figure 1.1). 1.2 MULTIPLE PREGNANCY The use of membrane thickness to determine chorionicity has been widely used, and a thickness of 2 mm or more has been a good predictor of DC/DA pregnancy (Figures 1.2, 1.3, and 1.4). However, the 2-mm cutoff has limitations, including (1) interobserver and intraobserver variability, (2) biologic variation in the sampling site at different gestational ages, and (3) technical resolution of ultrasound equipment with limitations in the ability to count separate layers. Unless in utero chorionicity is determined early on, it may become difficult to establish. Yet the establishment of chorionicity remains one of the main determinants of pregnancy outcome. In a DC/DA pregnancy there are no consequences for the co-twin if fetal demise occurs in the other. By contrast, a single intrauterine death in a monochorionic pregnancy can lead to hypotension in the co-twin, which may result in death or in necrotic brain lesions if it survives. Because expectant management of TTTS pre1 2 CHAPTER 1 THE FIRST TRIMESTER OF PREGNANCY T A B L E 1.1 Mean Menstrual Gestational Age in Weeks and Days Relative to Fetal EES and CRL in the First Trimester of Pregnancya,b CRL, mm F i g u r e 1.1 A, Note 3-mm CRL (between the plus signs) next to the yolk sac, equivalent to 62/7 weeks. B, Note 43-mm CRL, equivalent to 111/7 weeks. C, Note small fetus of 6 week’s size in a 9- to 10-week gestational sac. This is consistent with early fetal demise. (Courtesy Sharon DalCompo B.A., R.D.M.S., M.J.) 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 Week ⫹ Days CRL, mm ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 6 6 6 6 6 6 7 7 7 7 7 7 7 8 8 8 8 8 8 9 9 9 9 9 9 9 9 9 9 10 10 10 10 10 10 10 10 10 10 11 11 11 1 2 3 4 5 6 0 1 2 3 4 5 6 0 1 2 3 4 6 0 1 1 2 3 4 4 5 6 6 0 1 2 2 3 3 4 4 4 5 6 0 0 Week ⫹ Days 11 11 11 11 11 11 11 12 12 12 12 12 12 12 12 12 12 12 12 12 12 12 12 12 12 13 13 13 13 13 13 13 13 13 13 13 13 13 13 13 13 ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ ⫹ 0 1 2 3 4 5 6 0 0 1 1 2 3 3 4 4 4 5 5 5 6 6 6 6 6 0 0 0 0 1 1 2 2 2 2 2 2 3 5 6 6 a Adapted from MacGregor SN, Tamura RK, Sabbagha RE, et al. Underestimation of gestational age by conventional crown rump length dating curves. Obstet Gynecol 1987;70:344; and Daya S. Accuracy of gestational age estimation using fetal crown rump length measurements. Am J Obstet Gynecol 1993;168:903. b EES, early embryonic size.