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Fetology
Diagnosis and Management
of the Fetal Patient

i
 NOTICE

Medicine is an ever-changing science. As new research and bility for any errors or omissions or for the results obtained
clinical experience broaden our knowledge, changes in treat- from use of the information contained in this work. Readers
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Fetology
Diagnosis and Management
of the Fetal Patient

Second Edition
Diana W. Bianchi, MD Mary E. D’Alton, MD
Natalie V. Zucker Professor of Pediatrics, Obstetrics Willard C. Rappelye Professor of Obstetrics
and Gynecology and Gynecology
Tufts University School of Medicine Chair, Department of Obstetrics and
Vice Chair for Research and Academic Affairs Gynecology
Department of Pediatrics Director, Obstetrics and Gynecology Services
Floating Hospital for Children at Tufts Medical Center Columbia University Medical Center
Boston, Massachusetts Sloane Hospital for Women
New York Presbyterian Hospital
Timothy M. Crombleholme, MD Columbia University, College of Physicians
Richard G. and Geralyn Azizkhan Chair in Pediatric and Surgeons
Surgery New York, New York
Professor of Surgery, Pediatrics (Molecular and
Developmental Biology), and Obstetrics and Fergal D. Malone, MD
Gynecology Professor and Chairman
Director, Fetal Care Center of Cincinnati Department of Obstetrics and Gynecology
University of Cincinnati College of Medicine Vice Dean
Associate Director of the Cincinnati Children’s School of Medicine
Research Foundation Royal College of Surgeons in Ireland
Cincinnati Children’s Hospital Medical Center The Rotunda Hospital
Cincinnati, Ohio Dublin, Ireland

New York Chicago San Francisco Lisbon London Madrid Mexico City Milan
New Delhi San Juan Seoul Singapore Sydney Toronto

iii
Copyright © 2010, 2000 by The McGraw-Hill Companies, Inc. All rights reserved. Except as permitted under the United States Copyright Act of 1976, no
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a representative please e-mail us at [email protected].

Summary: “This book was written to provide a multidisciplinary approach to the full implications of a fetal sonographic or chromosomal
diagnosis–from prenatal management to long-term outcome–for an affected child. This book’s intended audience consists of practioners who care for
fetuses or neonates with sonographically detected anomalies, and who seek prenatal and postnatal information regarding specific conditions”–Provided by
publisher.

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 Dedicated to

John, Josh, and Elliott (Diana)

Peg, Caitlin, Hayley, and Kye (Tim)

Richard, Joseph, Conor, and Emer (Mary)

Marie, Ciara, Emma, Sarah, and Rachel (Fergal)

This page intentionally left blank
Contents
Preface to the First Edition.........................................xi 17. Intracranial Hemorrhage ............................... 141
Preface to the Second Edition .................................... xiii 18. Macrocephaly ............................................. 147
Acknowledgments (First Edition) ................................ xv 19. Myelomeningocele ...................................... 151
Acknowledgments (Second Edition)............................xvii 20. Microcephaly..............................................166
21. Porencephaly..............................................172
PART I INTRODUCTION........................................1 22. Vein of Galen Aneurysm ................................ 176

1. Prenatal Imaging ............................................ 3 Section B. Craniofacial / 183

2. First Trimester Screening for Aneuploidy ............. 11 23. Cleft Lip and Cleft Palate................................ 183

3. Second Trimester Screening for Aneuploidy .........18 24. Hemifacial Microsomia..................................193

4. Prenatal Diagnostic Procedures ........................ 26 25. Hypertelorism.............................................198

5. Fetal Intervention .......................................... 46 26. Hypotelorism..............................................204

27. Macroglossia .............................................. 207
PART II MANAGEMENT OF FETAL CONDITIONS 28. Micrognathia and Agnathia............................214
DIAGNOSED BY SONOGRAPHY .............................. 69
29. Microphthalmia/Anophthalmia.......................221
Section A. Central Nervous System / 71 Section C. Neck / 231
6. Agenesis of the Corpus Callosum ...................... 71 30. Congenital High Airway Obstruction
Syndrome .................................................. 231
7. Anencephaly ................................................ 77
31. Cystic Hygroma in Early Pregnancy...................237
8. Arachnoid Cyst ............................................. 83
32. Cystic Hygroma in Late Pregnancy ................... 241
9. Cerebral Calcifications .................................... 88
33. Goiter ....................................................... 249
10. Craniosynostosis ........................................... 92
Section D. Thoracic / 255
11. Dandy–Walker Malformation
and Variants ............................................... 102 34. Bronchopulmonary Sequestration ................... 255
12. Encephalocele ............................................ 109 35. Cystic Adenomatoid Malformation...................263
13. Exencephaly/Acrania .................................... 117 36. Other Cystic Lesions of the Chest ..................... 273
14. Holoprosencephaly......................................121 37. Congenital Diaphragmatic Hernia .................... 278
15. Hydranencephaly ........................................ 129 38. Hydrothorax...............................................292
16. Hydrocephalus............................................134 39. Pulmonary Agenesis ..................................... 300

vii
viii
Contents

40. Esophageal Atresia and 74. Colonic Atresia ............................................ 507

Tracheoesophageal Fistula.............................306
75. Hirschsprung’s Disease..................................511
Section E. Cardiovascular / 313 76. Imperforate Anus.........................................520
41. Tachyarrhythmias ........................................ 313
Section H. Genitourinary Tract / 527
42. Bradyarrhythmias ........................................ 320
77. Echogenic Kidneys ....................................... 527
43. Atrial Septal Defects ..................................... 328
78. Multicystic Dysplastic Kidney .......................... 530
44. Ventricular Septal Defects .............................. 331
79. Polycystic Kidney Disease...............................535
45. Atrioventricular Canal Defect .......................... 335
80. Hydronephrosis: Minimal...............................543
46. Ebstein Anomaly ......................................... 340
81. Hydronephrosis: Ureteropelvic
47. Hypoplastic Right Ventricle ............................ 344 Junction Obstruction .................................... 549
48. Hypoplastic Left Ventricle .............................. 348 82. Hydronephrosis: Bladder Outlet Obstruction ...... 555
49. Pulmonary Stenosis and Atresia.......................354 83. Hydronephrosis: Ectopic Ureterocele................570
50. Aortic Stenosis ............................................ 358 84. Ambiguous Genitalia .................................... 575
51. Coarctation of the Aorta ................................ 364 85. Persistent Cloaca ......................................... 585
52. Tetralogy of Fallot ........................................ 369 86. Renal Agenesis............................................589
53. Double Outlet Right Ventricle ......................... 374 87. Sirenomelia ................................................ 596
54. Truncus Arteriosus ....................................... 379 Section I. Skeletal / 603
55. Transposition of Great Arteries ........................ 384 88. Hemivertebrae............................................603
56. Heterotaxy Syndrome...................................389 89. Achondroplasia...........................................608
57. Cardiomyopathy..........................................395 90. Thanatophoric Dysplasia ............................... 615
58. Intracardiac Tumors ..................................... 402 91. Osteogenesis Imperfecta ............................... 623
Section F. Abdominal Wall Defects / 411 92. Campomelic Dysplasia .................................. 633
59. Ectopia Cordis.............................................411 93. Diastrophic Dysplasia ................................... 640
60. Body-Stalk Anomaly ..................................... 416 94. Ellis–van Creveld Syndrome ........................... 646
61. Pentalogy of Cantrell .................................... 421 95. Short-Rib Polydactyly Syndrome ..................... 650
62. Omphalocele..............................................426 96. Jarcho–Levin Syndrome ................................ 657
63. Gastroschisis...............................................435 97. Achondrogenesis.........................................664
64. Cloacal Exstrophy ........................................ 446 98. Hypophosphatasia.......................................671
65. Bladder Exstrophy........................................454 99. Chondrodysplasia Punctata............................677
Section G. Gastrointestinal Tract / 461 Section J. Extremities / 687
66. Cystic Lesions of the Abdomen........................461 100. Amniotic Band Syndrome .............................. 687
67. Choledochal Cyst.........................................465 101. Arthrogryposis ............................................ 697
68. Ovarian Cysts..............................................472 102. Clinodactyly ............................................... 704
69. Intra-abdominal Calcifications Hepatic.............478 103. Ectrodactyly ............................................... 708
70. Intra-abdominal Calcifications ........................ 482 104. Polydactyly ................................................ 714
71. Pyloric Atresia and Stenosis ............................ 491 105. Syndactyly ................................................. 720
72. Duodenal Atresia and Stenosis........................495 106. Radial Aplasia ............................................. 726
73. Jejunoileal Atresia and Stenosis.......................501 107. Clubfoot .................................................... 733
 ix
Contents

Section K. Umbilical Cord / 741 Section O. Disorders of Amniotic Fluid Volume / 871
108. Umbilical Cord Abnormalities ......................... 741 125. Oligohydramnios.........................................871
109. Single Umbilical Artery..................................746 126. Polyhydramnios .......................................... 879

Section L. Tumors / 751 Section P. Hydrops Fetalis / 885

110. Cervical Teratoma ........................................ 751 127. Immune Hydrops.........................................885

111. Liver Tumors...............................................758 128. Nonimmune Hydrops Fetalis .......................... 893

112. Mesoblastic Nephroma ................................. 767 PART III MANAGEMENT OF FETAL CHROMOSOME
113. Neuroblastoma ........................................... 772 ABNORMALITIES ............................................... 901

114. Retinoblastoma...........................................780 129. Trisomy 13 ................................................. 903

115. Sacrococcygeal Teratoma .............................. 785 130. Trisomy 18 ................................................. 910
116. Wilms’ Tumor..............................................797 131. Trisomy 21 (Down Syndrome).........................919
Section M. Multiple Gestation / 803 132. Triploidy....................................................926
117. Malformations in Twins ................................. 803 133. Other Autosomal Aneuploidies ....................... 932
118. Intrauterine Death in One Twin ....................... 810 134. 45, X (Turner Syndrome)................................937
119. Twin-to-Twin Transfusion Syndrome ................ 818 135. 47, XXY (Klinefelter Syndrome)........................945
120. Twin Reversed Arterial Perfusion 136. 47, XXX (Triple X Syndrome,
Sequence .................................................. 835 Trisomy X)..................................................951
121. Conjoined Twins..........................................843 137. 47, XYY......................................................954
122. Monoamniotic Twins .................................... 851 138. Tetrasomy 12p (Pallister–Killian
Syndrome) ................................................. 958
Section N. Disorders of Growth / 857
139. 22q11.2 Deletion (DiGeorge Syndrome) ............ 963
123. Intrauterine Growth Restriction ....................... 857
124. Overgrowth Syndromes ................................ 865 Index .............................................................. 969
This page intentionally left blank
Preface to the First Edition
We wrote this book to provide a multidisciplinary approach from our minds while we were writing. Most of the chapters
to the full implications of a fetal sonographic or chromo- were written by imagining that the prospective parents were
somal diagnosis—from prenatal management to long-term in our offices seeking advice regarding the abnormal fetal
outcome—for an affected child. We believed that what we, finding. We have attempted to provide a balanced, scholarly,
our colleagues, our trainees, and our patients needed was a nondirective approach to management, which may differ sig-
compilation of available information to answer many of the nificantly from what prospective parents may find on the
questions that parents ask when a fetal anomaly is diagnosed. Internet. Each chapter has a consistent format to facilitate
In our experience, pregnant patients frequently receive locating specific kinds of information.
conflicting information about the prognosis for the infant, We have personally treated patients with most if not all
depending on the sometimes narrow perspective of a sub- of the conditions described within the following chapters as
specialist. The diagnosis and management of a fetus with part of our collaborative work that began in the Fetal Diagno-
an anomaly requires that an expertise be developed outside sis and Treatment Program at New England Medical Center
the traditional boundaries of the existing specialties of ob- and Tufts University School of Medicine in Boston in 1993.
stetrics, pediatrics, and surgery. These traditionally defined While the three of us brought to each case our individual
disciplines do not serve us well in addressing problems that approaches based on our different subspecialty training, we
exist outside our usual practice. By convention, pediatric care collectively recognized the need to present a coordinated and
begins with the birth of an infant; however, we believe that comprehensive plan to parents faced with a diagnosis of a
pediatricians and pediatric surgeons can significantly con- fetal abnormality. Dr. Bianchi is a pediatrician, neonatolo-
tribute to the care of the fetus, their future patient. Similarly, gist, and medical geneticist who is interested in the correla-
obstetricians who do not generally provide medical care to tion of pediatric outcome with prenatal sonographic findings;
the infant after delivery might enhance their antenatal care Dr. Crombleholme is a pediatric surgeon who has also trained
by being better informed about pediatric prognoses and out- in fetal surgical intervention. He writes extensively on the
comes. Pediatric surgeons who operate on fetuses or infants possibilities for surgical treatment of these diverse conditions
with congenital anomalies have more in common with peri- and provides important information on long-term outcome.
natologists and neonatologists than with their other surgical Dr. D’Alton is an obstetrician and perinatologist with exper-
colleagues. The problem-oriented multidisciplinary team ap- tise in antenatal sonographic diagnosis of anomalies.
proach has analogies in other specialties, such as cardiology, Because our approach was unique, we felt that a multi-
where the cardiologist, cardiac surgeon, and radiologist all authored textbook would not specifically address the mul-
focus on heart disease. tiplicity of expertise necessary to care for the fetal patient.
This book’s intended audience consists of practition- In establishing our Fetal Treatment Program we worked col-
ers who care for fetuses or neonates with sonographically laboratively to bring our individual training, experience, and
detected anomalies, and who seek prenatal and postnatal knowledge base to each fetal patient on whom we consulted
information regarding specific conditions. Included in this and whom we treated. We wanted this book to be more than
audience are general obstetricians, perinatologists, genetic a mere collation of facts; we wanted a cohesive approach to
counselors, neonatologists, pediatricians, pediatric subspe- diagnosis, management, and in some cases, treatment of the
cialists, and pediatric surgeons. We have also included infor- fetal patient. We felt that in order for this book to reflect this
mation on some of the common chromosomal aneuploidies approach it would be best for the three of us to have input
that may be detected when karyotyping is performed for a into each chapter.
sonographic abnormality. Although the book is directed to- Finally, we must share with the reader that the most dif-
ward a medical audience, prospective parents were never far ficult aspect of writing this book was selecting a title. Although

xi
xii
Preface to the First Edition

we, as the authors, were in complete agreement regarding the our patients to answer many of the questions that are asked
body of knowledge and clinical information we wanted to when a fetal anomaly is diagnosed.
convey, it did not fit simply or neatly into a single existing Fetology, however, is an evolving field. Many of the
medical specialty. While it is the general obstetrician or peri- subtle prenatal sonographic findings in this book have only
natologist who first suspects (and diagnoses) an abnormality recently been described. We therefore await future clinical re-
in the fetus, it is the pediatric medical or surgical special- search to provide further information on the long-term clin-
ist who will ultimately treat the newborn infant. In many ical significance of many of the fetal findings reviewed here.
medical settings, however, prospective parents of a fetus with We hope that this reference serves to increase recognition of
an abnormality never meet with any pediatric specialists, let the unique aspects of caring for the fetal patient. We hope that
alone members of a fetal treatment team. After much debate, by viewing conditions from both the prenatal and postnatal
we selected the title, Fetology: Diagnosis & Management of the perspective, we will foster collaboration between the existing
Fetal Patient to indicate that the focus of this book is on the medical specialties, and ultimately benefit the care of fetal
diagnosis and the overall management of the fetal patient. patients and their families.
No one medical specialty is devoted to the care of the fetus.
By definition, therefore, fetology requires a multidisciplinary Diana W. Bianchi, MD
team approach. We wrote this book as a summary of available Timothy M. Crombleholme, MD
information for ourselves, our colleagues, our trainees, and Mary E. D’Alton, MD
Preface to the Second Edition
We are delighted to introduce this updated edition of our tected anomalies, and who seek prenatal and postnatal infor-
original textbook, which was intended to provide a multidis- mation regarding specific conditions. Included in this audi-
ciplinary approach to the full implications of a fetal sono- ence are general obstetricians, maternal-fetal medicine sub-
graphic or chromosomal diagnosis—from prenatal manage- specialists, genetic counselors, neonatologists, pediatricians,
ment to long-term outcome—for an affected child. pediatric subspecialists, and pediatric surgeons. As well as in-
Over the last decade since the publication of the first cluding information on some of the common chromosomal
edition we have received considerable feedback from both aneuploidies that may be detected when karyotyping is per-
patients and our colleagues regarding the strengths and areas formed for a sonographic abnormality, we have also included
needing improvement in the original text. Efficient access to new chapters summarizing contemporary approaches to first
a compilation of available information to answer many of the and second trimester screening for aneuploidy. First trimester
questions that parents ask when a fetal anomaly is diagnosed screening, in particular, has undergone marked changes in
has been warmly embraced. Our colleagues have found the standards and potential over the last decade. This includes
layout of the text to be helpful to extract the relevant pieces sonographic techniques, serum markers, and novel ways of
of information that they seek during a patient consultation. combining these approaches.
Frequently this may involve a rapid review of the sonographic Although the book is directed toward a medical au-
features of a particular abnormality, while at other times it dience, prospective parents remained in our thoughts while
may require a synopsis of current surgical approaches to the we were updating the text. Most of the chapters were written
repair of a complex malformation. Since 2000, the field of by imagining that the prospective parents were in our offices
obstetric imaging has advanced rapidly, making many of the seeking advice regarding the abnormal fetal finding. We have
images in our original text dated and not reflective of con- attempted to provide a balanced, scholarly, nondirective ap-
temporary imaging capabilities. This has required a com- proach to management, which may differ significantly from
plete review of all supplied images and we are grateful to our what prospective parents may find on the Internet. Each chap-
colleagues and patients for their assistance in providing the ter has a consistent format to facilitate locating specific kinds
significantly improved illustrations in this latest edition. An- of information.
other novel feature of this edition is the availability of succinct Fetology began as a collaborative work at the Fetal Diag-
Key Points at the beginning of each chapter. This allows for nosis and Treatment Program at New England Medical Center
rapid review of a particular condition when perhaps only a and Tufts University School of Medicine in Boston in 1993. By
few moments are available for review between patient visits 2000, the original Boston team had dispersed to various aca-
during a busy clinic. demic medical centers throughout the United States, and to-
As with the first edition of Fetology, we remain con- day the authors represent a diverse international team of fetal
vinced that the diagnosis and management of a fetus with medicine experts, spanning maternal-fetal medicine, neona-
an anomaly requires that an expertise be developed outside tology, genetics and pediatric surgery. While the four of us
the traditional boundaries of the existing specialties of ob- brought to each case our individual approaches based on our
stetrics, pediatrics, and surgery. The problem-oriented mul- different subspecialty training, we collectively recognized the
tidisciplinary team approach, as illustrated by Fetology, has need to present a coordinated and comprehensive plan to par-
analogies in other specialties, such as cardiology, where the ents faced with a diagnosis of a fetal abnormality. Dr. Bianchi
cardiologist, cardiac surgeon, and radiologist all focus on is a pediatrician, neonatologist, and medical geneticist who
heart disease. is interested in the correlation of pediatric outcome with pre-
This book’s intended audience remains practitioners natal sonographic findings; Dr. Crombleholme is a pediatric
who care for fetuses or neonates with sonographically de- surgeon who has also trained in fetal surgical intervention. He

xiii
xiv
Preface to the Second Edition

writes extensively on the possibilities for surgical treatment our book remains more than a mere collation of facts, but in-
of these diverse conditions and provides important informa- stead is a cohesive approach to diagnosis, management, and
tion on long-term outcome. Dr. D’Alton is an obstetrician treatment of the fetal patient. Each of the four of us therefore
and maternal-fetal medicine specialist with expertise in ante- have had input into each chapter.
natal sonographic diagnosis of anomalies. Dr. Malone is also As with the first edition of Fetology, we hope that this
a maternal-fetal medicine specialist who has spearheaded the reference serves to increase recognition of the unique aspects
development of new approaches to aneuploidy screening, as of caring for the fetal patient. We hope that by viewing con-
well as directing an international multidisciplinary fetal ther- ditions from both the prenatal and postnatal perspective, we
apy program. will foster collaboration between the existing medical special-
We have remained loyal to our original premise that a ties, and ultimately benefit the care of fetal patients and their
multi-authored textbook would not specifically address the families.
multiplicity of expertise necessary to care for the fetal patient.
Each section of our Fetal Treatment Program has been devel- Diana W. Bianchi, MD
oped collaboratively by the four of us to bring our individual Timothy M. Crombleholme, MD
training, experience, and knowledge base from each fetal pa- Mary E. D’Alton, MD
tient whom we have consulted on and treated. We hope that Fergal D. Malone, MD
Acknowledgments (First Edition)
Diana W. Bianchi, MD: In addition to the faculty and fel- Although we as authors initially did not bond to this term,
lows in maternal–fetal medicine and neonatology listed by in the end, we decided that it was the most appropriate way
Dr. D’Alton, I would like to acknowledge the collaboration, to describe the body of knowledge in what is arguably a new
support, and expertise of the medical genetics faculty at Tufts field of medicine.
University, which during the past six years has included Janet
Cowan, Patricia Wheeler, Rosemarie Smith, Janey Wiggs, and Timothy M. Crombleholme, MD: During the writing of this
Mira Irons. I am enormously grateful to the genetic coun- book, our understanding and approach to diagnosis and man-
selors listed by Dr. D’Alton, who not only provided out- agement of many fetal conditions has continued to evolve.
standing and compassionate care when a fetal anomaly was Progress has only been possible through the supportive inter-
diagnosed, but alerted us to the existence of cases that would actions of numerous professional colleagues in many disci-
present useful teaching examples for this book. I would also plines who bring their unique expertise to bear on the fetus. I
like to acknowledge the perinatal genetics fellows who worked would like to acknowledge my research fellows and colleagues
in my research laboratory during this time period, who read who have contributed to the development of the field of fe-
chapter drafts, and provided me with helpful feedback. They tal surgery and fetology: at Tufts University, Sarah Garmel,
include Antonio Farina, JiYi Wang, Akihiko Sekizawa, Osamu Frank Robertson, Kevin Moriarty, and E. Kerry Gallivan, and
Samura, Barbara Pertl, Satoshi Sohda, Kirby Johnson, Paula at The Children’s Hospital of Philadelphia, Darryl Cass, Karl
Farrell, Nancy Weinschenk, and Bharath Srivatsa. Sylvester, Kenneth Liechty, Harold Lovvorn, Heung Bae Kim,
I would also like to thank current or former Tufts fac- Aimen Shaaban, Colette Pameijer, Danielle Walsh, Yoshihiro
ulty members who critically read sections of the manuscript, Kitano, Adina Knight, Ross Milner, Natalie Rintoul, Holly
including Dr. Joseph Semple of Pathology, who supplied Hedrick, and Oluyinka Olutoye.
many photographs; Dr. Michael Lewis of Plastic Surgery; I wish to acknowledge the loyal support and guidance of
Dr. Michael Goldberg of Orthopedic Surgery; Drs. Gerald Lori Howell, who has been instrumental in the development
Marx, Ziyad Hijazi, and Jonathan Rhodes of Pediatric Car- of fetal treatment programs, both at The University of Califor-
diology; Dr. George Klauber of Urology; and Dr. N. Paul nia, San Francisco, and at The Children’s Hospital of Philadel-
Rosman of Pediatric Neurology. In addition, I would like to phia. The support and encouragement during the writing of
thank Dr. Deborah Levine for her expertise in fetal MRI, this book of N. Scott Adzick and Alan Flake, my partners in
Dr. Marjorie Treadwell for supplying additional illustrations, fetal surgery at The Children’s Hospital of Philadelphia, is
and Drs. Wolfgang Holzgreve and Roberto Romero for illus- gratefully acknowledged as is Michael R. Harrison, who as
trations and helpful discussions. I would also like to thank the father of fetal surgery was practicing fetology before it
my secretarial staff for their help and support in the writ- had a name. I would particularly like to thank my colleagues
ing and researching of the manuscript, including Lynne in other disciplines who have taught me so much and con-
Aufiero, Maria McCarthy, and Glenn Christie. I would also tributed to our understanding of the fetal patient, including
like to thank Jane Licht, our orignal editor at Appleton & Mark Johnson, Beverly Coleman, Stephen Horii, Jill Langer,
Lange, who guided me through the process of putting together Harvey Nisenbaum, and Mary King for their sonographic
a large textbook. I would like to give a special acknowledgment skill and enthusiastic support of fetal surgery; Anne Hubbard
to Dr. Mary Ellen Avery, who not only provided moral support and Larissa Bilaniuk for their pioneering work on fetal MRI;
but helpful information on the origin of the term neonatology, Zhi-Yun Tien, Jack Rychik, Meryl Cohen, Marie Gleason, and
as background for selecting the title of this book. Last but by Bill Mahle for their excellent echocardiographic support; and
no means least, I would like to thank Dr. Alan Guttmacher, Elaine Zackai and Stefanie Kasperski for genetic evaluation
who originally suggested the title for this book: Fetology. and counseling at The Children’s Hospital of Philadelphia.

xv
xvi
Acknowledgments (First Edition)

In the operating room at the Hospital of the University of Martin Gillieson, Laura Goetzel, Gary Kaufman, Fergal D.
Pennsylvania and The Children’s Hospital of Philadelphia, I Malone, Teresa Marino, Lucie Morin, Jose A. Nores, Steven
would like to acknowledge the contributions of Ted Cheek, Ralston, Dale P. Reisner, Rebecca Elliot Rigsby, Lynn Simpson,
Bob Gaiser, Dean Kurth, David Cohen, and Jeff Galinkin, who Julia Elizabeth Solomon, and Theresa Stewart. Other faculty
have done so much to advance the anesthetic management members at New England Medical Center who helped cre-
of fetal surgical patients. Also, acknowledged in the operat- ate a multidisciplinary team include Drs. John Fiascone, Ivan
ing room are Joy Kerr, Marianne Daskalakis, and Helen Lewis Frantz, Michael Goldberg, Karen Harvey Wilkes, Ziyad Hijazi,
and, most particularly, in the postnatal care and evaluation of George Klauber, Michael Lewis, Gerald Marx, Heber Nielsen,
our fetal patients, Kelli Burns and Sue Von Nessen. Lastly, for N. Paul Rosman, Joseph Semple, and Ralph Yarnell. I owe
their ability to decipher my hieroglyphic writing and secre- an enormous gratitude to the obstetric sonographers, Jean
tarial support, I give special thanks to Dee Caton and Noreen Crowley, Rachel Duguay, Peg Meyers, and Pam Sullivan, and
Mulholland. to the genetic counselors, Beth Berlin, Mona Inati, DeeDee
Lafayette, Emily Lazar, and Michele Murray, for their excel-
Mary E. D’Alton, MD: The years that I spent working with lence and devotion to patient care. I extend a special thank you
Dr. Diana Bianchi and Dr. Tim Crombleholme were some of to a model mentor, Dr. John Hobbins, who is widely consid-
the most rewarding years of my academic life. During this ered to be the father of obstetric ultrasound. In the program
time, we worked collectively to create a seamless, multidisci- he initially established at Yale University, ultrasound assumed
plinary approach to prenatal diagnosis and therapy for our an integral role in patient care. This program became a model
patients. Our collaboration is reflected in this manuscript. for many perinatal units throughout the United States. He ir-
I wish to acknowledge the support of my former fellows reversibly changed the way in which I considered the practice
and residents. All of these individuals in their unique way of maternal fetal medicine. In particular, I wish to acknowl-
helped shape the Division of Maternal Fetal Medicine, ini- edge the contributions of Drs. Richard Berkowitz, Fergal D.
tially at Tufts University School of Medicine, and now at Malone, and Lynn Simpson, who critically read many of the
Columbia University College of Physicians and Surgeons. chapters. The loyal support and personal and professional
Some former fellows stayed on as faculty, initially at Tufts, encouragement provided by Dr. Fergal Malone on an ongo-
and more recently at New York Presbyterian Hospital, and ing basis is deeply acknowledged and much appreciated. My
others are practicing in many other areas of the world. They part of this manuscript could not have been completed with-
include Drs. Achilles M. Athanassiou, Emily R. Baker, Juan out the superb editorial skills of Star Poole, virtuoso word
Castaner, Sabrina D. Craigo, Annette Perez Delboy, Karen processor, who served as a medical editor in the Division of
Davidson, Patricia Devine, Marla Eglowstein, Sara Garmel, Maternal Fetal Medicine at Tufts University.
Acknowledgments (Second Edition)
Diana W. Bianchi, MD: Since the publication of the first edi- editing suggestions. Similarly, Drs. Michael House, Terri
tion of Fetology, I have jokingly referred to it as my “third Marino, Steven Ralston, and Sabrina Craigo have been enor-
child”. It weighs 7 pounds and it is never far from my mind! mously helpful in making the second edition even better than
Alternatively, I refer to it as my “external hard drive”, because the first! I would also like to thank the Tufts maternal-fetal
it is a convenient compilation of all the facts I need or want medicine fellows who have worked in my research laboratory,
to know when I perform a prenatal genetic consultation for specifically Drs. Barbara O’Brien, Neeta Vora, Linda Kleeman,
a fetus with an anomaly or an abnormal karyotype. How- and Adam Urato, who have always stimulated me by asking
ever, in the past 10 years, many sections of the book have great questions. Lastly, I would like to express my profound
become outdated. We seriously questioned whether we had appreciation to my family, in particular my husband John,
the time or energy to perform a thorough revision for a sec- who have been understanding of the fact that the “third child”
ond edition. In the end, Drs. Crombleholme, D’Alton, and is a demanding one, and requires individual time and atten-
I decided that we could do it only if we added a fourth au- tion.
thor. The choice of Fergal Malone was a natural one, given
his long association with Tufts and his expertise in prena- Timothy M. Crombleholme, MD: During the writing of
tal diagnosis and fetal medicine. In contrast to the first edi- this second edition, (which my children fondly refer to as
tion, when Drs. Crombleholme, D’Alton, and I would meet “Fetology II: The Fetus Strikes Back”) our understanding and
for coffee in one of our offices at Tufts to review and dis- approach to diagnosis and management of many fetal condi-
cuss the chapters, we are now scattered across the US and tions has continued to evolve. Progress has only been possible
Ireland. Thus, most of the writing and editing for the sec- through the supportive interactions of numerous professional
ond edition was done via email, with occasional “marathon” colleagues in many disciplines who bring their unique exper-
meetings at the McGraw-Hill offices in Manhattan. Thanks tise to bear on the fetus. I would like to acknowledge my past
to our editors, Alyssa Fried and Karen Davis, we re- and present research fellows and colleagues who have con-
ceived food, shelter, and administrative support during those tributed to the development of the field of fetal surgery and
sessions. fetology: at Cincinnati Children’s Hospital in the Center for
In addition to the people I thanked in the first edition I Molecular Fetal Therapy, Elliott Kozin MD, Anna Katz MD,
would like to specifically acknowledge Linda Keys, who helped Jignesh Parvadia MD, Ahmed Marwan MD, Suzi Demiberg
me immensely with reference retrieval and typing the revised MD, Arturo Maldonado MD, PhD, Ursula Harkness MD,
chapters. Dr. Nick Guerina transferred original color slides to Sachin Vaikunth MD, Maria Ripberger, Fernando Vuletin-
digital files so that we could add color to this edition. I would Solis MD, Lee Morris MD, Shuichi Katayama MD, Swathi
also like to thank the staff at the Prenatal Diagnosis Center Balaji PhD, Datis Alaee MS, Chuck Klanke MS, Helen Jones
at Women and Infants’ Hospital in Rhode Island, where I PhD, Louis Le MD, and Kim Lyons RN, BSN. In the Fetal
provided prenatal genetic consultations from 2000–2007. In Care Center of Cincinnati, Emmie Blayer, Rachel Jones,
particular, the genetic counselors Jacquelyn Halliday, Carolyn Cheryl Snell, Jenni Mason RN, Gina Sharp RN, Deborah Voet
Slack and Kerry Lurix identified cases of interest for images RN, Karen McGirr RN, CNM, Christine Spaeth MS, Diana
and discussion. I would also like to thank Drs. François Luks, Smith MS, and Erin Hillman MSW, Judith Hostiuck RNC-
Steven Carr and Marshall Carpenter for referring interest- OB, Steven Imhoff RNC, our obstetrical nurses in The Fetal
ing cases to me. At Tufts Medical Center I would also like Care Center: Gina Allaire RN, Melissa Brewington RN, Judy
to acknowledge the invaluable help of the genetic counselors Bryant RN, Kasey Casson RN, Kasey Duffens RN, Elizabeth
Beth Berlin, Paula Delerme, Amy Sachs, Denise Lafayette, and Geiger RN, Deborah Kocis RN, Kelly LaFlamme RN,
Lauren Lichten for their help in proofreading and making Lori Macke RN, Pam Mitchell RN, Monica Newman RN,

xvii
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