1. family and parenting
2. motherhood
3. pregnancy

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
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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.