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 Thisbookisprintedonacid-freepaper.(cid:1)(cid:1) Copyright(cid:2)2002byWiley-Liss,Inc.,NewYork.Allrightsreserved. PublishedsimultaneouslyinCanada. Nopartofthispublicationmaybereproduced,storedinaretrievalsystemortransmittedinany formorbyanymeans,electronic,mechanical,photocopying,recording,scanningorotherwise, exceptaspermittedunderSections107or108ofthe1976UnitedStatesCopyrightAct,without eitherthepriorwrittenpermissionofthePublisher,orauthorizationthroughpaymentofthe appropriateper-copyfeetotheCopyrightClearanceCenter,222RosewoodDrive,Danvers,MA 01923,(978)750-8400,fax(978)750-4744.RequeststothePublisherforpermissionshouldbe addressedtothePermissionsDepartment,JohnWiley&Sons,Inc.,605ThirdAvenue,NewYork, NY10158-0012,(212)850-6011,fax(212)850-6008,E-Mail:[email protected]. Fororderingandcustomerservice,call1-800-CALL-WILEY. LibraryofCongressCataloging-in-PublicationData: Fetalanomalies:ultrasounddiagnosisandpostnatalmanagement/editedbyMaxMaizels, BettinaCuneo,RudyE.Sabbagha. p. cm. Includesbibliographicalreferencesandindex. ISBN0-471-38052-0(cloth:alk.paper) 1. Fetus—Abnormalities—Ultrasonicimaging. 2. Fetus—Diseases—Diagnosis. 3. Ultrasonicsinobstetrics. 4. Postnatalcare. I. Maizels,Max. II. Cuneo,Bettina. III. Sabbagha,RudyE. [DNLM: 1. Abnormalities—ultrasonography. 2. FetalDiseases—diagnosis. 3. Postnatal Care. 4. Ultrasonography,Prenatal. WQ209F41912001] RG628.3.U58F472001 618.3(cid:2)207543—dc21 00-043433 PrintedintheUnitedStatesofAmerica. 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 Pregnancy Dates 1 1.2 Multiple Pregnancy 1 1.3 Abnormal First Trimester Pregnancies 7 1.4 Early Detection of Fetal Anomalies 11 2 The 10- to 14-Week Scan—Rudy E. Sabbagha, M.D. 15 2.1 First Trimester Detection of Aneuploidy and Fetal Anomalies 15 3 Detection of Trisomies 21 and 18—Rudy E. Sabbagha, M.D. 21 3.1 The Likelihood Ratio and the Multiple Marker Screen 21 3.2 Trisomy 21 22 3.3 Trisomy 18 27 4 The Fetal Face and Neck 31 Section 4A. Evaluation of the Fetal Face and Neck—Rudy E. Sabbagha, M.D. 31 4A.1 The Face 31 4A.2 The Neck 37 Section 4B. Correlative Presurgical and Postsurgical Treatment of Fetal Face and Neck Abnormalities—Jay M. Pensler, M.D. 43 4B.1 Cleft Lip and Palate 43 4B.2 Other Abnormalities 45 vii viii CONTENTS 5 The Fetal Central Nervous System 47 Section 5A. The Head—Rudy E. Sabbagha, M.D. 47 5A.1 Evaluation of the Fetal Brain 47 5A.2 Abnormal Head Size 50 5A.3 Abnormal Lobe Development 54 5A.4 Cysts 54 5A.5 Abnormal Corpus Callosum 57 5A.6 Abnormal Posterior Fossa and Cisterna Magna 60 5A.7 Other Abnormal Brain Findings 63 Section 5B. The Spine—Rudy E. Sabbagha, M.D. 65 5B.1 Evaluation of Spina Bifida 65 5B.2 The Parasagittal Lower Spine 68 5B.3 Sacrococcygeal Teratoma 68 Section 5C. Spina Bifida: Urologic Aspects—William E. Kaplan, M.D. 70 5C.1 Diagnosis During Second Trimester 70 5C.2 Diagnosis During the Third Trimester 74 Section 5D. Spina Bifida: Orthopaedic Aspects 75 5D.1 Orthotics 75 5D.2 Ambulatory Status 76 5D.3 Spine Deformities 76 5D.4 Foot Deformities 76 6 The Fetal Chest and Abdomen—Rudy E. Sabbagha, M.D. 81 6.1 The Chest 81 6.2 The Abdomen 85 7 The Fetal Urinary Tract—Max Maizels, M.D. 93 7.1 The Normal Urinary Tract 93 7.2 Urinary Tract Ectasia 94 7.3 Development of the Urinary Tract 96 7.4 Multicystic Kidney Disease 100 7.5 Nonspecific Pyelectasis 103 7.6 Hydronephrosis 111 7.7 Megaureter 130 7.8 Ectopic Ureter 136 7.9 Ureterocele 136 7.10 Nonspecific Bladder Dilation and Megacysts 138 7.11 Vesicoureteral Reflux 140 7.12 Posterior Urethral Valves 153 7.13 Prune Belly Syndrome 157 8 Diagnosis of Fetal Structural Genital Anomalies— D. Preston Smith, M.D., F.A.A.P., F.A.C.S. 163 8.1 Normal Development 163 8.2 Anomalous Development 165 9 Polycystic Kidney Disease and Renal Transplantation— Richard Cohn, M.D., and Casimir F. Firlit, M.D. Ph.D. 169 Section 9A. Autosomal Recessive Polycystic Kidney Disease 169 9A.1 Clinical Forms 169 9A.2 Fetal Diagnosis 170 9A.3 Newborn Management 171 9A.4 Dilemma of Fetal Diagnosis 171
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