Book Reading Fetomaternal Division

VACTERL SYNDROME

Presenter
dr. Dian Permata Rizda

Moderator
Dr. dr. Peby Maulina Lestari, Sp.OG, Subsp. K.Fm

DEPARTMENT OF OBSTETRICS AND GYNECOLOGY

FACULTY OF MEDICINE SRIWIJAYA UNIVERSITY
DR. MOHAMMAD HOESIN HOSPITAL PALEMBANG
Presented on Wednesday, February 15 th 2023, at 07.00 AM.
 ENDORSMENT SHEET

VACTERL SYNDROME

Presented on Wednesday, February 15 th 2023, at 07.00 AM.

Moderator Presenter

Dr. dr. Peby Maulina Lestari, Sp.OG, Subsp. K.Fm dr. Dian Permata Rizda

DEPARTMENT OF OBSTETRICS AND GYNECOLOGY

FACULTY OF MEDICINE SRIWIJAYA UNIVERSITY
DR. MOHAMMAD HOESIN HOSPITAL PALEMBANG
 S e c o n d E d i t i o n
Medicine / Obstetrics and Gynecology

S e c o n d E d i t i o n

Ultrasound Ultrasound
of Congenital of Congenital
Fetal Fetal

Fetal Anomalies
Ultrasound
  Anomalies
Differential Diagnosis and Prognostic Indicators   Anomalies
This extensively illustrated book guides readers through the use
of ultrasound (including 3D images) to detect and identify birth
Differential Diagnosis and Prognostic Indicators
defects in utero, with correlated clinical images where appropriate.

of
Up-to-date advice is offered on the differential diagnosis of a wide
range of fetal abnormalities. Each anomaly is discussed in a stan-

Congenital
dardized, easy-to-follow format that covers characteristic features,
pathogenesis and etiology, differential diagnosis, prognosis, and
management. New to this edition are important chapters on first
trimester detection, on infection, and on multiple pregnancy, with
significant additional material also on cardiac anomalies.

Contents: Anatomic survey of the fetus and early diagnosis of fetal anomalies * Central and peripheral nervous
system anomalies * Craniofacial and neck anomalies * Cystic hygroma and nonimmune hydrops fetalis * Congenital
heart disease * Thoracic anomalies * Anomalies of the gastrointestinal tract and of the abdominal wall * Anomalies of
the urinary tract and of the external genitalia * Skeletal dysplasias and muscular anomalies: a diagnostic algorithm
* Chromosomal and nonchromosomal syndromes * Ultrasound in fetal infection * Ultrasound in multiple pregnancy

Dario Paladini, MD, Head, Fetal Medicine and Surgery Unit, Gaslini Childrens’ Hospital, Genoa, Italy
Paolo Volpe, MD, Head, Fetal Medicine Unit, Department of Obstetrics and Gynecology, Hospitals Di Venere
and Sarcone, Bari, Italy

Foreword by Yves Ville

Dario Paladini • Paolo Volpe

K20928
ISBN-13: 978-1-4665-9896-6
90000

9 781466 598966

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 Ch r o mo so mal and no nch r o mo so mal sy nd r o me s 431

Vater (V ac ter l) ASSOC IATIO N

Incidence. Rare.
Etiology. Unknown. More common in cases of maternal insulin-dependent diabetes.
Ultrasound diagnosis. Vertebral anomalies; anal anomalies; cardiac defects; tracheoesophageal fistula; renal
anomalies; limb anomalies (aplasia radii).
Outcome. Depends on the severity of the various anomalies.
Recurrence risk. Most cases are sporadic.

Definition In 1972, this malformative cluster of various In Table 10.5, a list of the various anomalies found
apparati was defined as VATER–VACTER–VACTERL postnatally in patients with VACTERL association is
(OMIM 192350), according to the different anom- shown. As evident, the spectrum of possible anomalies
alies present at the same time. The original acronym
(VATER) refers to the nonrandom association of the
following malformations: vertebral anomalies (fusion,
hemivertebrae, and scoliosis), anal anomalies (ano-
rectal atresia), tracheoesophageal fistulae and renal
anomalies (dysplasia, hydronephrosis, and ectopia).
Then, the “C” (for cardiac defects: VSD, tetralogy of
Fallot, and transposition of the great arteries) and the
“L” (for limbs: aplasia radii and polydactyly) were
added if necessary. Also, a variant named VACTERL-H
association has been described, wherein the “H” stands
for hydrocephalus.

Etiology and pathogenesis. The etiology is unknown.

A significant association has been found with maternal
diabetes.

Genetics. This is not available.

Ultrasound diagnosis (Figures 10.44 through 10.46).

The ­diagnosis is difficult because of the wide spectrum
of anomalies that can be present for each apparatus
(Table 10.5) [7,49]. The major anomalies most fre-
quently recognized in the fetus are as follows:

• Scoliosis or hemivertebrae: this is evident on the

coronal view of the spine (Figures 10.44a, 10.45d,
and 10.46a);
• Cardiac defects: these include various types of con-
genital heart defects (TGA, Fallot, and VSD);
• Renal anomalies: these include agenesis, ectopia,
hydronephrosis (Figure 10.45b and c; Figure 10.46,
inset), and horseshoe kidney;
• Limb anomalies: the most common of these is apla-
sia radii (Figure 10.45a; see also Figure 9.35).
Figure 10.44  VA(C)TER(L) association (21 weeks of ­gestation).
(a) Severe scoliosis and thoracic deformation (arrows) due to
multiple vertebral anomalies, including a hemivertebra, and
the ribs also are abnormal; (b) left lung agenesis was associ-
ated; (c) in the pelvis, the rectum is abnormally dilated (arrows),
which was a sign of anorectal atresia; (d) autoptic confirmation:
note the severe scoliosis and consequent marked asymmetry
of the thorax (arrows); and (e) the posterior view of the pelvis
­confirms anal atresia.

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 432 ULTR ASO UND O F CO NGE NITAL FE TAL ANO MALIE S

Figure 10.45  VA(C)TER(L) association. Other signs possibly indicative of this nonrandom association of congenital anomalies are
(a) aplasia radii; (b) unilateral renal agenesis (note the verticalized adrenal gland; see arrows); (c) hydronephrosis; and (d) an abnor-
mal spine, with wedge vertebrae (arrowhead) or hemispondilus.

per anatomical system varies significantly; in relation
to the prenatal diagnosis issue, three categories can
be identified: (1) very subtle malformations, the diag-
nosis of which also represents a challenge postnatally
(vertical vertebral clefts, anal stenosis, etc.); (2) major
malformations that cannot be diagnosed prenatally
or are recognized only late in pregnancy (tracheo-
esophageal atresia, anal atresia (Figure  10.44c and
e), some VSDs, and vertebral fusion); and (3) major
malformations that can be adequately diagnosed pre-
natally (TGA, Fallot, radial aplasia, hemivertebrae,
cystic renal dysplasia, unilateral renal agenesis, and
ectopia).
A comment should be made regarding the feasibility
of prenatal diagnosis of VACTERL association, because
a significant number of colleagues have been sued world-
wide for missing a prenatal diagnosis of such a malfor-
mation cluster. Table 10.5 demonstrates irrefutably that
only a very minority of cases with VACTERL associa-
tion can be diagnosed prenatally. The fact that only a
few case reports have been published in the last 20 years,
and no major case series, is a further confirmation.

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 Ch r o mo so mal and no nch r o mo so mal sy nd r o me s 433

Figure 10.46  VA(C)TER(L) association (22 weeks of gestation). An unusual case sharing some features with the caudal regression
sequence complex. (a) A large defect of the caudal part of the spine involving the lumbar and sacral tracts (arrowheads). The inset
shows bilateral renal dysplasia. (b) 3D maximum-mode rendering demonstrating the vertebral anomalies and the wide sacral defect
(arrow). (c) The same image, but with surface-rendering mode showing the cystic sacral lesion (arrow). (d and e) Autoptic confirma-
tion; compare with (b) and (c).

Differential diagnosis. Considering the wide range of
malformations that involve several organ systems, the
differential diagnosis issue is a complicated one for the
VACTERL association. The simple task is to rule out
the autosomal trisomies 13 and 18 by doing a karyo-
type in those cases in which m ­ alformations such as
VSD, tetralogy of Fallot, or aplasia radii are ­diagnosed.
The more difficult part would be to ­differentiate
VACTERL association from other rare, nonchromo-
somal syndromic conditions that may feature some
of the malformations present in VACTERL associa-
tion (Table 10.6) [49]. Note that for aplasia radii, the
­differential diagnosis includes Fanconi anemia, TAR
syndrome, and trisomy 18 (Chapter 9).

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 434 ULTR ASO UND O F CO NGE NITAL FE TAL ANO MALIE S

Table 10.5  Congenital anomalies present in VA(C)TER(L) association

Vertebral anomalies 60–80%

Hemivertebrae
Butterfl vertebraea
Wedge vertebraea
Vertebral fusiona
Vertebral dysplasiaa
Scoliosis

Congenital heart disease 40–80%

TGA
Tetralogy of Fallot
VSD

Anal atresiaa 55–90%

Tracheoesophageal fistul a
50–80%

Radial ray defects 40–50%

Radial aplasia and hypoplasia
Radio-ulnar synostosisa
Thumb hypoplasiaa, syndactyly, pre-axial polydactyly

Renal anomalies 50–80%

Unilateral agenesis, horseshoe kidney, ectopia
Cystic dysplasia
Hydronephrosis
Ectopia

Single umbilical artery 35%

Source: Modified from Jones KL, Smith’s Recognizable Patterns of Human
Malformation, 6th edn., WB Saunders, Philadelphia, PA, 2006; Solomon BD,
Orphanet J Rare Dis 6, 56, 2011.
a
Not detectable prenatally in most cases.
TGA: transposition of the great arteries; VSD: ventricular septal defects.

Prognosis, survival, and quality of life. The outcome
depends obviously on the severity and the time-lined
management of the various abnormalities. Heart
defects (TGA and Fallot), anorectal malformations,
tracheoesophageal fistulae and tethered cord (asso-
ciated with vertebral defects) require an early surgi-
cal approach. Functional impairment may represent a
problem for individuals with scoliosis (from hemiverte-
brae) or severe radial defects. Mental retardation is not
expected in VACTERL association.
Recurrence risk. VACTERL association is a ­sporadic
anomaly, and therefore the recurrence risk is extremely
low.

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 Ch r o mo so mal and no nch r o mo so mal sy nd r o me s 435

Table 10.6  Differential diagnosis of VA(C)TER(L) association

• Alagille syndrome
• Baller–Gerold syndrome
• CHARGE syndrome
• Currarino syndrome
• 22q11 microdeletion
• Fanconi anemia
• Feingold syndrome
• Fryns syndrome
• Hemifacial microsomiaa
• Holt–Oram syndrome
• MURCS association
• Opitz G/BBB syndrome
• Pallister–Hall syndrome
• Townes–Brocks syndrome
a
Also known also as Goldenhar syndrome or o ­ culo-­auricolo-​vertebral
spectrum (OAVS).
CHARGE: Colobomata, Heart anomaly, choanal Atresia, Retardation
of growth and development, G­ enital anomalies, Ear anomalies; MURCS:
­Müllerian duct aplasia, Renal aplasia, and Cervico-thoracic Somite dys-
plasia, also known as Mayer–Rokitansky–Küster–Hauser syndrome
type II.

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