Obstetric Imaging
Radiology
Shraga Blazer, MD
Etan Z. Zimmer, MD
Ayala Gover, MD
Moshe Bronshtein, MD
Index terms:
Fetus, abnormalities, 856.8713,
856.872, 856.874, 856.8761,
856.877
Fetus, US, 856.12981, 856.12989
Intestines, hernia, 856.8761
Pregnancy, US, 856.12981,
856.12989
Umbilical cord
Published online
10.1148/radiol.2321030795
Radiology 2004; 232:191–195
1
From the Departments of Neonatol-
ogy (S.B.) and Obstetrics and Gyne-
cology (E.Z.Z., A.G., M.B.), Rambam
Medical Center and Faculty of Medi-
cine, Technion-Israel Institute of Tech-
nology, 8 Ha’Aliyah St, Haifa 35254,
Israel. Received May 21, 2003; revi-
sion requested August 4; final revision
received October 19; accepted No-
vember 12. Address correspondence
to S.B. (e-mail: blazer@rambam.health
.gov.il).
Author contributions:
Guarantors of integrity of entire study,
all authors; study concepts and de-
sign, all authors; literature research, all
authors; clinical studies, all authors;
data acquisition, M.B., A.G.; data anal-
ysis/interpretation, all authors; manu-
script preparation, definition of intel-
lectual content, editing, revision/
review, and final version approval, all
authors
© RSNA, 2004
Fetal Omphalocele Detected
Early in Pregnancy: Associated
Anomalies and Outcomes1
PURPOSE: To detect omphalocele and associated anomalies at ultrasonography
(US) early in pregnancy and to describe the outcomes in fetuses with isolated and
nonisolated omphalocele.
MATERIAL AND METHODS: Fetal endovaginal US was performed in 43,896
pregnant women at 12–16 weeks gestation. The women found to have fetal
omphalocele were offered an amniocentesis to determine the fetal karyotype. For
parents who decided to continue the pregnancy, repeat targeted transabdominal
fetal US was performed at 20 –24 weeks gestation. Additional follow-up US exami-
nations performed until delivery were recommended. Postnatal pediatric examina-
tions were performed in all of these fetuses. For the pregnancies in which no
anomaly was detected at early US, the women were advised to undergo repeat US
at about 24 weeks gestation for the detection of late-manifesting fetal anomalies.
For pregnancies in which the baby was not delivered at the authors’ affiliated
hospital, the woman, her obstetrician, and her pediatrician were asked to inform the
authors of any detected anomaly.
RESULTS: Omphalocele was visualized at US in 38 fetuses, who were categorized
into two groups. One group consisted of 22 (58%) fetuses with associated structural
anomalies. According to the karyotype determined for 18 of these fetuses, 11 of
them also had chromosomal anomalies. The pregnancy was terminated at the
parents’ request in 19 of these 22 cases. There were two cases of missed abortion,
and a small omphalocele in one fetus disappeared at 21 weeks gestation. The
second group consisted of 16 (42%) fetuses with a normal karyotype and an
omphalocele as an isolated US finding. In eight of these fetuses, the omphalocele
disappeared at 20 –24 weeks gestation and no defect was seen at delivery. In six
other fetuses, omphalocele was identified at delivery. There was one case each of
missed abortion and pregnancy termination. There were no false-negative diag-
noses of omphalocele.
CONCLUSION: Isolated omphalocele diagnosed during the early stages of gesta-
tion typically has a good prognosis. In cases of a small defect, the anomaly may
disappear later in the pregnancy.
© RSNA, 2004
Omphalocele and gastroschisis are the two most common major congenital abdominal
wall defects (1). With omphalocele, the intraabdominal viscera herniate into the base of
the umbilical cord and the herniated viscera are covered by the peritoneum and amnion.
The incidence of omphalocele reported in the literature varies considerably, ranging from
0.8 to 3.9 cases per 10,000 births (2). Omphalocele is known to be a part of various
anomaly syndromes, such as Beckwith-Wiedemann syndrome, pentalogy of Cantrell, and
omphalocele exstrophy imperforate anus spinal defects syndrome (2–5). Overall, associ-
ated structural anomalies have been noted in 27% (3) to 91% (6) of fetuses with ompha-
locele, and abnormal chromosomes—mainly those of trisomy 13 and trisomy 18 (7,8)—
have been observed in 20%–50% of cases.
The exact mechanism leading to omphalocele is controversial. During normal embry-
onic growth, a rapid elongation of the gut and its mesentery characterizes the develop-
191
 ment of the midgut. As a result of this
rapid growth and the simultaneous ex-
pansion of the liver, the abdominal cav-
ity becomes too small to contain all of
the intestinal loops, so they enter the
Radiology
US Examination and Image
Interpretation
All US examinations were performed
by the same sonologist (M.B.) by using a
commercially available unit (ESI 3,000;
ing the fetuses in whom no omphalocele
had been detected, it should be noted
that not all of the women who under-
went US at our US facility gave birth at
our affiliated hospital. Therefore, for

extraembryonic coelom in the umbilical
cord. This process of physiologic umbili-
cal herniation occurs during the 6th
week of development. During the 10th
week, the intestines return to the abdom-
inal cavity. This process is called the re-
duction of the midgut hernia (9 –11). Ul-
trasonographic (US) examinations have
revealed the completion of this process at
12 weeks gestation (12). It has been sug-
gested that failure of the intestinal loops
to reenter the abdominal cavity results in
omphalocele (13). Another possibility is
that omphalocele results from the failure
of the embryonic lateral folds to fuse in
the midline (10).
There are few case reports of transient
fetal omphalocele (14,15) or delayed re-
duction of the physiologic midgut hernia
(16). Therefore, it seems that the US de-
tection of herniation of intestinal loops
into the umbilical cord during the early
stages of pregnancy raises concern re-
garding the exact origin and importance
of this finding: Does it represent a mal-
formation or a delayed physiologic pro-
cess?
The aim of this study was to detect
omphalocele and associated anomalies at
US during the early stages of pregnancy
and to describe the outcomes in fetuses
with isolated and nonisolated omphalo-
cele.
MATERIALS AND METHODS
Study Population
For this study, we enrolled 43,896 con-
secutive pregnant women who under-
went US early in their pregnancy (ie, at
12–16 weeks gestation) during the period
of September 1987 to December 2002.
The mean maternal age was 31.1 years
(range, 17– 45 years). This large series re-
flects the tendency in our region for phy-
sicians to perform detailed targeted US
examinations of almost every pregnant
woman. Eighty-eight percent (n ⫽ 38,634)
of these women were at low risk for fetal
malformations, whereas 12% (n ⫽ 5,262)
had risk factors such as exposure to medi-
cations, family history of congenital mal-
formations, and consanguinity. The study
was approved by the institutional review
board of Rambam Medical Center and Fac-
ulty of Medicine, Technion-Israel Institute
of Technology, and all maternal patients
gave their consent to be examined for the
study.
those cases in which the baby was born at
Elscint, Haifa, Israel) with a 7.5-MHz an-
another hospital, we asked the mother,
nular-array vaginal transducer. The so-
her obstetrician, and her pediatrician to
nologist had 3 years experience before
inform us of any anomaly observed in
the start of this study. The average US
the newborn(s).
scanning time per patient was 20 –30
minutes. In cases in which it was techni-
cally difficult to visualize all of the fetal RESULTS
organs vaginally (in about 1% of patients),
an additional US examination was per-
Omphalocele was detected in 38 fetuses
formed by using 3.5- and 5.0-MHz abdom-
of the 43,896 pregnant women—an oc-
inal probes.
currence of approximately one in every
The US diagnosis of omphalocele was
1,155 or 0.09% of the pregnancies—at
based on the presence of an abdominal
12–16 weeks gestation (Figure). No false-
wall defect with herniation of the intes-
negative diagnoses were recorded in this
tinal loops and/or other abdominal or-
series.
gans into the umbilical cord. The US fea-
Associated structural anomalies were
tures of the liver and intestines differ
detected at initial US in 22 (58%) of the
from those of the blood vessels of the
38 fetuses (Table 1); the karyotype of 18
umbilical cord. The liver and the lumen
of these 22 fetuses was determined with
of the bowel are echogenic, whereas the
amniocentesis. An abnormal karyotype
lumen of the blood vessels is anechoic.
was identified in 11 of the 18 fetuses in
Regarding the entire series of 43,896
whom chromosomal analysis was per-
pregnant women, it should be noted that
formed. The specific karyotype abnor-
in cases in which a fetal anomaly was
malities are listed in Table 1. Herniation
detected at US, targeted follow-up US
of the liver into the omphalocele was
scans were usually obtained at our insti-
detected in five of these 22 fetuses. Car-
tution. For those cases in which no
diac anomalies were detected in 13; cys-
anomaly was detected at US during the
tic hygroma, in 13; limb anomalies, in
early stages of pregnancy, we recom-
eight; and renal anomalies, in seven fe-
mended that the woman undergo tar-
tuses. In one fetus, the omphalocele had
geted follow-up US at about 24 weeks
disappeared by the time of follow-up US
gestation for the detection of anomalies
scanning. This child was followed up for
that may have manifested late (eg, dwarf-
3 years and was healthy at the time of
ism or hydrocephaly). These follow-up
this writing. Three sibling fetuses in
scans were obtained in many cases by
consecutive pregnancies had the same
various sonologists and not only by the
combination of anomalies: omphalo-
initial sonologist (M.B.), and to our
cele, hydrocephaly, tetralogy of Fallot,
knowledge almost all of the women in
and clubfoot.
this study underwent such scanning.
Data on the 16 fetuses in whom
omphalocele was a solitary US finding are
presented in Table 2. Amniocentesis re-
Karyotype Determination and
sults showed all 16 of these fetuses to
Follow-up
have a normal karyotype. Herniation of
In addition to detailed targeted US ex- the liver was not observed in any of these
aminations of all fetal organs, fetal karyo- fetuses. Among these 16 fetuses with iso-
typing was offered in all cases in which lated omphalocele, there was one case of
omphalocele was detected. Follow-up missed abortion. In another case, the par-
transabdominal US of the fetus was per- ents decided to terminate the pregnancy.
formed at 20 –24 weeks gestation by the Follow-up data on the remaining 14 fe-
same observer (M.B.) in all cases in which tuses were available. Each of four fetuses
the parent(s) decided to continue the was a co-twin in a set of twins in which
pregnancy. The mothers were advised to one of the co-twins was affected. In six
continue undergoing follow-up US ex- newborns, omphalocele was confirmed
aminations performed by an experienced at delivery and surgically treated. In the
examiner until delivery. A postnatal other eight fetuses, the abdominal wall
physical examination was performed in defect had disappeared by the time of
all neonates in whom omphalocele had repeat US performed between 20 and 24
been observed during pregnancy. Regard- weeks gestation. It is interesting that the

192 䡠 Radiology 䡠 July 2004 Blazer et al

 abnormal karyotype in the fetuses with
isolated omphalocele in our series, we
still believe that karyotyping should be
offered to all patients in whom this
anomaly is detected because our series
Radiology

was too small for us to draw a definitive

conclusion regarding the possibility of an
abnormal karyotype in such fetuses.
Of special interest are the nine fetuses
in whom the omphalocele disappeared
according to follow-up US findings. All of
these fetuses had a normal karyotype,
and the initial US scan revealed only a
few herniated intestinal loops in the um-
bilical cord. In all except one (fetus 22 in
Table 1) of these cases, the omphalocele
was a solitary finding. The underlying
reason for transient omphalocele is not
yet clear. However, it is possible that this
phenomenon represents a physiologic
process of midgut herniation. Our review
of the literature revealed few reports of
transient omphalocele that was detected
at 14.0 and 15.5 weeks gestation and had
a favorable outcome (14,15). There is,
however, a report of a fetus in whom the
midgut reduction process was delayed
until 13 weeks gestation and volvulus
and intestinal obstruction were observed
at delivery (16). In our series, the late
disappearance of herniated intestines
was observed in nine fetuses of the
43,896 pregnancies (ie, one in every
4,877 pregnancies).
US scans of omphalocele (OC and O.C) in five fetuses at 14 –16 weeks gestation. A, Sagittal
The discrepancy between our data and
scan of a single herniated intestinal loop (arrow) at 14 weeks gestation. B, Sagittal scan of
a single herniated intestinal loop (arrows) at 16 weeks gestation. C, Sagittal scan of two the very rare incidence of transient
herniated intestinal loops (arrows) at 14 weeks gestation. Additional US scanning revealed omphalocele reported in the literature
that the tubelike structures were intestinal loops and not umbilical arteries. D, Transverse may be attributed to the US scanning
oblique scan of a cluster of herniated intestinal loops (arrows) at 15 weeks gestation. technique that we used. The improved
E, Transverse oblique scan of omphalocele (arrow) at 15 weeks gestation. F, Transverse resolution achieved by using the de-
oblique scan of the omphalocele in the same fetus as in E at 21 weeks gestation; arrows
scribed endovaginal technique enables
point to a normal umbilical cord with no herniated content.
the visualization of even a small hernia-
tion of the intestine into the umbilical
cord, which may be overlooked when the
transabdominal technique is used. Fur-
original omphalocele seen in these eight nancy, the anomaly disappeared later in
thermore, because the incidence of this
fetuses contained only a few intestinal the pregnancy.
phenomenon, as observed by us, is about
loops. All of these fetuses were healthy at According to the Online Mendelian In-
one in 4,900 pregnancies, sonographers
birth. One of them had a small umbilical heritance in Man database (17), ompha-
have to scan many thousands of patients
hernia that did not necessitate treatment locele may be a part of 52 syndromes.
to find a single case. The exact time that
and resolved spontaneously. Therefore, a wide range of differential di- the herniated intestine disappeared in
agnoses should be considered for fetuses the fetuses examined in the present study
DISCUSSION in whom omphalocele is observed. De- is not clear because the maternal patients
tailed repeat targeted US examinations of underwent repeat US at 20 –24 weeks ges-
Results of the present study show that all fetal organs are mandatory in these tation.
omphalocele with other associated struc- cases because the detection of associated We believe that an additional original
tural anomalies is also associated with a structural anomalies may help direct the aspect of the present series was the iden-
high incidence of chromosomal aberra- observer in diagnosing a specific syn- tification of three sibling fetuses who had
tions. On the other hand, in the present drome. Because of the reported high in- the same combination of anomalies:
study there were no cases of an abnormal cidence of chromosomal aberrations in omphalocele, hydrocephaly, tetralogy of
karyotype in the fetuses with isolated fetuses with omphalocele, in this study Fallot, and clubfoot.
omphalocele. Furthermore, in half of the we offered chromosomal analysis to all One should be aware that it might be
cases of isolated omphalocele that were patients with this abnormality. Despite difficult to detect in utero all of the syn-
diagnosed during the early stage of preg- the fact that there were no cases of an dromes associated with omphalocele. For

Volume 232 䡠 Number 1 Fetal Omphalocele Detected Early in Pregnancy 䡠 193

 TABLE 1
Characteristics of Fetuses with Omphalocele Associated with Other Structural Anomalies Detected Early in Pregnancy
Fetus Maternal Gestational
No. Age (y) Age (wk) Associated Anomalies* Karyotype† Outcome
Radiology

1 34 14 Hydronephrosis, horseshoe kidney, nonseptated cystic hygroma, short Trisomy 18 Pregnancy terminated
limbs, VSD
2 24 14 Horseshoe kidney, septated cystic hygroma, tetralogy of Fallot Trisomy 18 Pregnancy terminated
3 40 15 AVSD, cleft lip and palate, IUGR Trisomy 18 Pregnancy terminated
4 32 15 Diaphragmatic hernia, horseshoe kidney Trisomy 18 Pregnancy terminated
5 36 14 Abdominal cyst, AVSD, horseshoe kidney, septated cystic hygroma Trisomy 18 Missed abortion
6 39 14 Coarctation of aorta, hydronephrosis, oligohydramnios, nonseptated Trisomy 21 Pregnancy terminated
cystic hygroma
7‡ 28 15 Nonimmune hydrops, septated cystic hygroma, short limbs Trisomy 21 Pregnancy terminated
8 39 15 Bilateral clubfoot, hydrocephaly, IUGR, tetralogy of Fallot Trisomy 13 Pregnancy terminated
9 30 12 Holoprosencephaly, oligohydramnios, proboscis, septated cystic Triploidy Pregnancy terminated
hygroma
10‡ 29 16 Horseshoe kidney, septated cystic hygroma, trigonocephaly Triploidy Pregnancy terminated
11 34 16 Dysplastic kidney, nonimmune hydrops, septated cystic hygroma 45, XO Pregnancy terminated
12§ 26 14 Clubfoot, hydrocephaly, tetralogy of Fallot Normal Pregnancy terminated
13§ 21 15 Clubfoot, hydrocephaly, tetralogy of Fallot Normal Pregnancy terminated
14§ 23 15 Clubfoot, hydrocephaly, tetralogy of Fallot Normal Pregnancy terminated
15‡ 24 14 Hyperechogenic cortex, IUGR Normal Pregnancy terminated
16 26 16 Dandy-Walker malformation, oligohydramnios, septated cystic hygroma, Normal Pregnancy terminated
severe heart malformation, short limbs
17 30 16 Hydrops fetalis, septated cystic hygroma Normal Pregnancy terminated
18 37 13 Anophthalmos, AVSD, holoprosencephaly, polydactyly, proboscis, NP Pregnancy terminated
septated cystic hygroma
19‡ 33 13 Septated cystic hygroma, severe heart malformation NP Pregnancy terminated
20‡ 33 14 Arthrogryposis, clenched hands, DOLV, microtia NP Pregnancy terminated
21 32 15 Septated cystic hygroma NP Missed abortion
22 36 15 Nonseptated cystic hygroma Normal Normal, omphalocele
and nonseptated
cystic hygroma
disappeared at 21
weeks gestation
* AVSD ⫽ atrioventricular septal defect, DOLV ⫽ double-outlet left ventricle, IUGR ⫽ intrauterine growth restriction, VSD ⫽ ventricular septal defect.
† NP ⫽ not performed: Amniocentesis to determine fetal karyotype was not performed.
‡ Liver herniation in the omphalocele.
§ Fetuses 12–14 were siblings.

instance, the gestational age at which the

classic signs of Beckwith-Wiedemann TABLE 2
Characteristics of Fetuses with Isolated Omphalocele Detected Early in
syndrome, such as macroglossia, become Pregnancy
apparent at US is not yet clear. There are
even reports of the late manifestation of Maternal Gestational
the characteristic findings of Beckwith- Fetus No. Age (y) Age (wk) Outcome
Wiedemann syndrome after delivery (18). 1* 30 15 Omphalocele surgically treated, healthy newborn
We therefore advocate performing careful 2 26 15 Omphalocele surgically treated, healthy newborn
follow-up US examinations throughout 3 22 16 Omphalocele surgically treated, healthy newborn
4 25 16 Omphalocele surgically treated, healthy newborn
gestation so that parents and caregivers 5 27 16 Omphalocele surgically treated, healthy newborn
have as much information as is neces- 6* 28 16 Omphalocele surgically treated, healthy newborn
sary to facilitate the ideal management 7 27 14 Missed abortion
of the pregnancy. Furthermore, it may 8 26 15 Pregnancy terminated
9 28 14 Normal, omphalocele disappeared at 20 weeks gestation
even be a good recommendation to fol- 10 32 15 Normal, omphalocele disappeared at 20 weeks gestation
low up fetuses with omphalocele after 11 26 15 Normal, omphalocele disappeared at 20 weeks gestation
birth to exclude the possibility of an 12 32 15 Normal, omphalocele disappeared at 22 weeks gestation
abnormality such as Beckwith-Wiede- 13* 19 15 Normal, omphalocele disappeared at 22 weeks gestation
14 29 15 Normal, omphalocele disappeared at 23 weeks gestation
mann syndrome and its associated com- 15 36 16 Normal, omphalocele disappeared at 24 weeks gestation
plications (eg, Wilm tumor). 16* 35 15 Normal, omphalocele disappeared at 22 weeks
There were possible limitations in our gestation, small umbilical hernia at birth
study. As noted earlier, not all of the Note.—These 16 fetuses had normal karyotypes and no associated abnormalities.
women included in the study gave birth * One fetus in a set of twins.
at our affiliated hospital. In such cases,
our data on pregnancy outcome were
based on the compliance of the maternal
patients, their obstetricians, and their pe- the best of our knowledge, we were in- detected. In addition, to the best of our
diatricians in reporting information. To formed about almost every malformation knowledge, there was no case of an un-

194 䡠 Radiology 䡠 July 2004 Blazer et al

 detected omphalocele; however, we can-
not be absolutely certain of this.
In conclusion, fetuses with a solitary
finding of intestinal herniation into the
umbilical cord and a normal karyotype
Radiology
typically have a favorable prognosis.
Parents should be counseled about the
following possibilities: (a) The fetus
may have an undetected omphalocele
that can be identified and surgically
treated after delivery. (b) The fetus may
have a transient omphalocele, which
may disappear during gestation. (c) The
fetus may have a rare syndrome that
cannot be definitively diagnosed in
utero. Thus, follow-up examinations
performed throughout gestation and
even after delivery are warranted.
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