PRENATAL SONOGRAPHIC DIAGNOSIS OF CRANIOFACIAL AND LIMB-BODY WALL

DEFECTS SECONDARY TO AMNIOTIC BAND SYNDROME

Adisuroso T*, Andonotopo W**, Salim A***

*Department of Obstetrics & Gynecology, Putera Bahagia Hospital, Faculty of Medicine, Gunung Jati
University, Cirebon, West Java, Indonesia
**Department of Obstetrics & Gynecology, Eka Hospital, BSD City, Serpong, Tangerang, Banten,
Indonesia
***Fetomaternal Division, Department of Obstetrics & Gynecology, Faculty of Medicine, University of
Indonesia, Jakarta, Indonesia

ABSTRACT

We describe a case of craniofacial and limb-body wall defects secondary to amniotic

band syndrome diagnosed by two-dimensional (2D), three-dimensional (3D) and four-
dimentional (4D) ultrasound at 22 weeks of gestation. The ultrasound examination
demonstrated amniotic bands, fetal acrania, facial clefts, a large lower abdominal wall
disruption, kyphoscholiosis, amputation of finger and pseudosyndactily. This report highlights
the importance of a careful search for amniotic bands and a detailed survey of the fetus face,
digits, and body in the sonographic evaluation of craniofacial and limb-body wall defects.

KEYWORDS: prenatal diagnosis, sonographic diagnosis, craniofacial defects, limb-body wall

defects, amniotic band syndrome

INTRODUCTION

Amniotic band syndrome is a congenital malformation describing a wide spectrum of

abnormalities ranging from minor constriction rings to complex and bizarre multiple congenital
anomalies that are due to amniotic bands that stick, tangle and disrupt fetal parts.1
 The incidence of amniotic band syndrome varies from 7.7 in 10.000 live births or
178 in 10.000 spontaneous abortions.1-3 Males and females are equally affected by amniotic
band syndrome.1,2
The etiology for which is undetermined. There have been reports associating amniotic
band syndrome with maternal trauma, oophorectomy during pregnancy, intrauterine
contraceptive device and amniocentesis, but these are clearly a minority. There are case
reports in families with connective tissue disorders such as Ehler-Danlos syndrome and
osteogenesis imperfecta.2,4
The cause of the malformations in amniotic band syndrome remains controversial. The
endogenous theory suggested a focal developmental error in the formation of limb connective
tissue, whereas the exogenous theory implicates rupture of the amnion as the responsible
cause.1,2
Although a wide array of malformations can occur, characteristic features detected with
conventional two-dimensional (2D) sonography can often suggest the diagnosis.3-5 There have
been very few reports on three-dimensional (3D) sonographic diagnosis of amniotic band
syndrome.3,5
We present a case of craniofacial and limb-body wall defects diagnosed by conventional
2D, 3D, and four-dimensional (4D) sonography as being secondary to the early distorting and
disruptive effects of amniotic bands.

CASE REPORT

A 33-year-old woman, primigravida was referred to our department at 22 weeks of

gestation due to the suspicion of cephalic fetal anomaly on a routine ultrasound examination.
Her past obstetrical history was remarkable for 3 years primary infertility.

2D ultrasound examination revealed multiple anomalies and amniotic bands. Multiples

anomalies were observed including fetal acrania, bilateral facial clefts extending towards the
eyes, a lower abdominal wall disruption with multiple loops of bowel floating freely in the
amniotic fluid, kyphoscoliosis, amputation of finger and pseudosyndactyly (Fig. 1). 3D and 4D
sonography confirmed fetal acrania, abdominal wall disruption, amputation of finger and
pseudosyndactily (Fig. 2).

Maternal serum alfa-fetoprotein (AFP) screening increased and above 400 IU/ml.
Chromosomal analysis was not performed. The patient opted to terminate the pregnancy. After
receiving several doses of Misoprostol, she delivered a 400 grams male fetus that was noted to
have multiple anomalies similar to sonography findings (Fig. 3,4).

A
B

Figure 1. Amniotic band syndrome. 2D sonography showing fetal acrania (A), facial clefts (thin
arrows) and lower abdominal wall disruption (B). These defects are interpreted as being
secondary to the early distorting and disruptive effects of amniotic bands (thick arrows).
 A. B.

Figure 2. Amniotic band syndrome. 3D sonography shows fetal acrania (A) and gastroschisis (B).

C. D.

Figure 3. Photograph of amputation of finger (yellow arrow)(C) and pseudosyndactyly (red

arrow) (D).
Figure 4. Postmortem photograph. Gross appearance of the fetus with fetal acrania, facial
clefts, lower abdominal wall disruption, amputation of finger and pseudosyndactyly secondary
to amniotic bands.

DISCUSSION

Constrictions are the most common deformities; It occurs in seventy-seven percent of

fetuses with multiple anomalies.1,2 A diagnostic feature is finding of amniotic bands in direct
contact with fetal parts that show significant restriction of motion. 1 A search for the amniotic
bands themselves in addition to the fetal malformations should be made in amniotic band
syndrome. Observation of such bands is helpful in confirming the diagnosis of amniotic band
syndrome, although their identification is not required to make the diagnosis.4,5
In the absence of this feature, asymmetric craniofacial deformity with adherent bands
or combination of bands and any of the deformities just mentioned should be highly suggestive
of amniotic band syndrome.1,4,5
Amniotic band syndrome consists of a group of sporadic abnormalities characterized by
congenital ring constriction or amputation of digits and limbs, terminal digital fusion
(pseudosyndactyly), talipes, and multiple craniofacial, visceral, and body wall defects.5
We detected sonographic features suggestive of amniotic band syndrome. In this case,
the diagnosis was established prenatally by the association of severe craniofacial defects
included fetal acrania, asymmetric bilateral facial clefts, a large lower abdominal wall
disruption, the limb anomalies consist of amputation of finger and pseudosyndactyly. These
underscores the importance of prenatal identification of sonographic indicators for amniotic
band syndrome in lieu of the demonstration of actual amniotic bands in diagnosis.
Furthermore 2D sonography also found amniotic bands. However the amniotic bands
responsible for this eviceration were mixed. Therefore it was not easily to detect amniotic
bands in utero and after birth.
Seven infants have been studied who have a similar pattern of severe craniofacial and
limb anomalies associated with aberrant tissue bands. The craniofacial anomalies consist of
unusual encephaloceles, facial clefts, and cranial plus midfacial distortion; the limb anomalies
consist of constrictions, amputations and pseudosyndactyly. These defects are interpreted as
being secondary to the early distorting and disruptive effects of aberrant tissue bands.6 Acrania
or absence of the flat skull bones with disorganized cerebral hemispheres have been reported
in the presence of amniotic bands.4,5,7 The facial malformations in amniotic band syndrome are
multiple, polymorphous, and asymmetric.8
The characteristics of infants with amniotic bands with body wall defects are more
similar to the group of infants with body stalk anomalies.9,10 The differential diagnosis of body
stalk anomaly includes other fetal abdominal wall defects such as amniotic band syndrome are
random defects, constriction rings, amputation and bands.10
In conclusion, the present case shows that it is possible to detect subtle sonographic
features suggestive of amniotic band syndrome in prenatal diagnosis. A careful search for
amniotic bands and a detailed survey of the fetus face, digits, limbs, spine, body wall, and
internal organs therefore should be performed in the prenatal sonographic evaluation of
craniofacial defects and limb-body wall defects.

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