Embryo and Fetal Pathology: Color Atlas with Ultrasound Correlation

728 Pages·2004·24.517 MB·English

by  Enid Gilbert-Barness, Diane Debich-Spicer, John M. Opitz, Mark Williams, Kathy B. Porter, Susan Guidi

Embryo and Fetal Pathology
COLORATLASWITHULTRASOUNDCORRELATION
Exhaustively illustrated in color with more than 1000 photographs, figures,
histopathologyslides,andsonograms,thisuniquelyauthoritativeatlasprovides
theclinicianwithavisualguidetodiagnosingcongenitalanomalies,bothcommon
andrare,ineveryorgansysteminthehumanfetus.Itcoversthefullrangeofembryo
andfetalpathology,frompointofdeath,autopsyandultrasound,throughspecific
syndromes, intrauterine problems, organ and system defects to multiple births
andconjoinedtwins.Grosspathologicfindingsarecorrelatedwithsonographic
featuresinorderthatthereadermayconfirmvisuallythediagnosisofcongenital
abnormalitiesforallorgansystems.Obstetricians,perinatologists,neonatologists,
geneticists,anatomicpathologists,andallpractitionersofmaternal-fetalmedicine
willfindthisatlasaninvaluableresource.
EnidGilbert-BarnessisProfessorofPathology,LaboratoryMedicine,Pediatrics
and Obstetrics and Gynecology at the University of South Florida and Profes-
sorEmeritusofPathologyandLaboratoryMedicineandDistinguishedMedical
AlumniProfessorEmeritusattheUniversityofWisconsin-Madison.Sheisaleading
authorityinpediatricpathologywithaninternationalreputationforhercontri-
butionstotheareasofcongenitalabnormalities,tumorbiology,abnormalskeletal
growth,suddeninfantdeathsyndrome,andmanygeneticandhereditarydisorders.
DianeDebich-Spicerisapathologists’assistantandhighlyaccomplishedmedical
illustrator.Shehashadmorethantwentyyearsofexperienceinpediatricpathology.

Embryo and Fetal Pathology
COLOR ATLAS WITH ULTRASOUND CORRELATION
Enid Gilbert-Barness, MD, MBBS, FRCPA,
FRCPath, DSci(hc), MD(hc)
TampaGeneralHospital,UniversityofSouthFlorida
UniversityofWisconsinSchoolofMedicine
Diane Debich-Spicer, BS
TampaGeneralHospital,UniversityofSouthFlorida
Ultrasound contributions from:
Mark Williams, MD
Kathy B. Porter, MD
Susan Guidi, MS, RDMS
FOREWORD BY JOHN M. OPITZ, MD, MD(hc),
DSci(hc), MD(hc)
Pediatrics(MedicalGenetics),HumanGenetics,ObstetricsandGynecology,
andPathology
UniversityofUtahMedicalSchool
cambridge university press
Cambridge, New York, Melbourne, Madrid, Cape Town, Singapore, São Paulo
Cambridge University Press
cb2 2ru
The Edinburgh Building, Cambridge , UK
Published in the United States of America by Cambridge University Press, New York
www.cambridge.org
Information on this title: www.cambridge.org/9780521825290
© Enid Gilbert-Barness and Diane Debich-Spicer 2004
This publication is in copyright. Subject to statutory exception and to the provision of
relevant collective licensing agreements, no reproduction of any part may take place
without the written permission of Cambridge University Press.
First published in print format 2004
isbn-13 978-0-511-19581-5
eBook (NetLibrary)
isbn-10 0-511-19581-8
eBook (NetLibrary)
isbn-13 978-0-521-82529-0
hardback
isbn-10 0-521-82529-6
hardback
url
Cambridge University Press has no responsibility for the persistence or accuracy of s
for external or third-party internet websites referred to in this publication, and does not
guarantee that any content on such websites is, or will remain, accurate or appropriate.
ToLew,Mary,Elizabeth,Jennifer,RebeccaandgrandchildrenAlexandra,
Louis,Christian,James,Thomas,Blake,Spencer,Curtis,
KiaraandRebecca
and
ToScottandAndrew

Contents
ForewordbyJohnM.Opitz pageix
Preface xiii
Acknowledgments xv
1 TheHumanEmbryoandEmbryonicGrowthDisorganization 1
2 LateFetalDeath,Stillbirth,andNeonatalDeath 23
3 FetalAutopsy 45
4 UltrasoundofEmbryoandFetus 75
PartI. GeneralPrinciples 75
MarkWilliams,KathyB.Porter
PartII. MajorOrganSystemMalformations 102
MarkWilliams,KathyB.Porter
PartIII. AdvancesinFirstTrimesterUltrasound 143
SusanGuidi
5 AbnormalitiesofPlacenta 150
6 ChromosomalAbnormalitiesintheEmbryoandFetus 180
7 TerminologyofErrorsofMorphogenesis 207
8 MalformationSyndromes 227
9 Dysplasias 254
10 DisruptionsandAmnionRuptureSequence 275
vii
viii CONTENTS
11 IntrauterineGrowthRetardation 310
12 FetalHydropsandCysticHygroma 321
13 CentralNervousSystemDefects 335
14 CraniofacialDefects 367
15 SkeletalAbnormalities 388
16 CardiovascularSystemDefects 428
17 RespiratorySystem 470
18 GastrointestinalTractandLiver 490
19 Genito-UrinarySystem 513
20 CongenitalTumors 546
21 FetalandNeonatalSkinDisorders 579
22 IntrauterineInfection 601
23 MultipleGestationsandConjoinedTwins 622
24 MetabolicDiseases 635
Appendices 657
Index 679
Foreword
WiththepublicationofEmbryoandFetalPathology,developmentalpathology
hascomefullcircle.Itisnocoincidencethatthedevelopmentofthisbranch
ofbiologywasalmostexactlycongruentwiththatofmorphology.Andwhile
morphology,sinceitsfoundingbyGoetheandBurdach,respectively,in1796
and1800,continuedtogrowslowlybutsteadily,especiallyaftersheddingits
neo-Platonicphilosophicaltrappings,developmentalpathologymaturedinfits
andspurtswithsomeastonishinghiatus,whichtodateremainunexplained
bythehistoriansofbiology.Andwhilethedescriptionofthemalformedfetus,
someofthemwithremarkableaccuracy,antedatedthe19thcentury,itwas
not until 1802–1805 that we can date a modern (i.e., scientific) analysis of
malformations.Itwasonthe8thofApril1802thatJoannesFridericusMeckel,
Halensis,attheageof21,publicedefendethisdissertatioinauguralis“decordis
conditionibus abnormibus” (on congenital heart defects, published in Reil’s
Archivethreeyearslater).
Whathappenedbetween1802and1805inMeckel’slifewasoftheutmost
importance for the subsequent development of the field, for it was during
thattimethattheprodigiouslygifted,youngMeckel–workingwithCuvierin
Paris–becamemasterofcomparativeanatomybutwiththedifferencethat,
whileCuvierignoredembryonicandfetalstagesandconsideredmalformations
irrelevant,Meckeldidnot.Indeed,itwasMeckel’sattentiontoprenatalstages
oflife,whethernormalorabnormal,thatledtotheformulationoftheconcepts
ofvestigia(persistenceofembryonic/fetalstages)andatavisms(recurrenceof
ix