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Atrioventricular septal defect in the fetus ultrasound diagnostic features,

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Article  in  Obstetrica si Ginecologie · July 2016

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Obstetrica }i Ginecologia LXIV(2016) 35-43 Original article

ATRIOVENTRICULAR SEPTAL DEFECT IN THE FETUS

ULTRASOUND DIAGNOSTIC FEATURES, ASSOCIATIONS,
OUTCOME AND PATHOLOGY IN A SINGLE CENTRE SERIES
Monica Laura Cara1, Stefania Tudorache2, Cristiana Simionescu3, F. Burada4, Maria Florea1,
Roxana Dragusin1, Alice Dragoescu5, D.G.Iliescu2

1. Department of Obstetrics and Gynaecology, University of Medicine and Pharmacy Craiova

2. Department of Obstetrics and Gynaecology, University of Medicine and Pharmacy Craiova
Prenatal Diagnostic Unit, University Emergency Hospital Craiova, Romania
3. Department of Pathology, University of Medicine and Pharmacy Craiova, University
Emergency Hospital Craiova, Romania
4. Genetics Department, Human Genomic Research Centre, University of Medicine and
Pharmacy Craiova, University Emergency Hospital Craiova, Romania
5. Anaesthesiology and Intensive Care Department, University of Medicine and Pharmacy
Craiova, Romania,

Abstract

Our goals were to assess the ultrasound (US) features, the associations, the outcome and the pathological
aspects of atrioventricular septal defect (AVSD) in the fetus. In the retrospective study we searched for: indications
for echography, US features, associated cardiac/extracardiac and chromosomal anomalies, fetal/neonatal outcome
and pathological exam. 15 confirmed cases entered the analysis. The two US markers of AVSD were detected in all
cases. 7 cases were isolated. Additional anomalies were present in 8 and chromosomal anomalies in 7 cases. There
were 12 terminations of pregnancy (TOPs), an early fetal demise and 2 survivors. In 6 out of 7 first trimester
diagnosed cases, couples requested for TOP. We believe our results underline the changing in the gestational age at
the diagnostic and an increasing parental desire for early diagnostic of CHDs, as well as changes in the decision
making process over the years.

Rezumat: Defectele de sept atrioventricular fetal.

Scopul lucrării este acela de a evalua retrospectiv caracteristicile ecografice, asocierile patologice,
prognosticul şi aspectele anatomo-patologice ale defectelor septale atrio-venriculare (DSAV) fetale din experienţa
clinicii noastre.
15 cazuri confirmte au fost analizate. Dintre acestea, în 7 cazuri anomalia a fost izolată, la 8 au fost
prezente anomalii associate şi la 7 fetuşi au fost diagnosticate anomalii cromozomiale. În 12 cazuri sarcina a fost
întreruptă, într-un caz s-a constatat deces intraterin fetal, iar două cazuri s-au concretizat cu naştere de făt viu. În
6 din cele 7 cazuri diagnosticate în primul trimestru, părinţii au solicitat întreruperea sarcinii.
Rezultatele studiului arată scăderea vârstei de gestaţie la care este detectată această anomalie fetală, o
nevoie în creştere a cuplurilor pentru diagnostic morfologic precoce, precum şi modificări importante în ultimii ani
cu privire la procesul decizional parental referitor la continuarea sau întreruperea cursului sarcinii.
Cuvinte cheie: boli cardiace congenitale; defect septal atrioventricular; diagnostic prenatal;
ecocardiografie de prim trimestru; manopere invazivś; autopsie convenţională

CORESPONDEN[~: Stefania Tudorache, email: stefania.tudorache@gmail.com

Obstetrica }i Ginecologia 35
KEY WORDS: congenital heart diseases; atrioventricular septal defect; prenatal diagnosis
first trimester echocardiography; invasive manoeuvre; conventional autopsy
 Atrioventricular septal defect in the fetus
INTRODUCTION
With the recent advances in ultrasound (US)
technology, normal and abnormal structures of the
fetal heart are easier to recognize in early pregnancy
(1-9).
Atrioventricular septal defect (AVSD) has
an incidence between 0.19/1000 to 0.31/1000 live
births (10, 11). The essential morphological landmark
of “AVSD spectrum” is the presence of a common
AV junction as compared to the separate right and
left AV junction in the normal heart. Other
morphological features are: defects of the muscular
and membranous AV septum and an un-wedging of
the left ventricular outflow tract from the normal
position between the tricuspid and mitral valve. There
is disproportion between the increased outlet and the
decreased inlet dimensions of the left ventricle, as
compared to the normal heart where both dimensions
are similar.
In complete AVSD (cAVSD) the AV valvar
orifice is common. In ostium primum atrial septal
defect (opASD - the partial form, pAVSD) there are
separate right and left valve orifices, but the AV
junction remains a common structure (10, 12, 13).
The prenatal US diagnosis of cAVSD/pAVSD is
feasible (13, 14).
Ther e are few ser ies of fetal AVSD
published. The cases are usually described in large
series of fetal cardiac defects (6, 7, 15, 16).
The aim of this retrospective study was to
assess the diagnostic pathway in our Prenatal
Diagnostic Unit (PDU), in the south-east region of
the state, the anatomical US features, the associations,
the outcome and the correspondence between the
US diagnostic and the conventional autopsy details
of AVSD in the fetus, and also to explore the changing
of patterns in diagnosis and management of AVSD
over a long period of time.
MATERIALS AND METHODS
Cases of congenital heart diseases (CHD)
diagnosed and managed in the PDU, Emergency
University Hospital in Craiova, were searched from
2005 to 2014. As a tertiary centre, we consider the
36 Obstetrica }i Ginecologia
study population as a medium risk one, having
approximately 15% referral cases. From the clinical
files of CHD cases, we elected the ones that had in
the index the AVSD diagnostic. We defined “clinically
confirmed” a case if all members of an
interdisciplinary team (two obstetricians specialized
in antenatal diagnostic, a neonatologist and a
cardiologist) agreed on the diagnostic on the basis of
US features, and the cases were confirmed by the
pathologic exam of the post-mortem specimen
(induced abortion or after neonatal death).
The variables available for analysis were:
personal data of the mother, indications for US
examination, diagnostic features, associated cardiac/
extracardiac and chromosomal anomalies, fetal/
neonatal outcome and pathological exam post-mortem,
if performed. Two dimensional fetal
echocardiography was carried out in all the cases
(Voluson 730 Expert and E8 US machines, GE
Medical Systems, Kretztechnik, Zipf, Austria). The
echocardiographic features indicative of AVSD were:
opASD and loss of the normal offset appearance of
the AV valves. In all cases, colour Doppler was
applied to detect the opASD, the valve insufficiency/
stenosis and additional defects of the interventricular
septum (13). A thorough search for a second major
heart or extracardiac lesion was carried out in all the
cases.
Invasive testing was offered. Conventional
G banding karyotype (KT) was obtained. 25-30
metaphases/case were analysed directly and 5
metaphases were, at least, karyotyped (17, 18).
Testing for 22q11 was performed for two patients.
Postnatal echocardiography was performed for the
two cases with birth outcome.
When medical termination of pregnancy
(TOP) performed, conventional autopsy was
attempted, regardless of the gestational age (GA).
Autopsies were performed by trained perinatal
pathologists and followed accepted protocols (19, 20).
Direct communication with the pathologist was
present, the obstetrical and medical history, the
invasive testing results, the US features, and the
family history being provided.
All cases confirmed by the pathologic exam
had available photographic files. In all the autopsies,
 Monica Laura Cara
we identified the great arteries in situ, and the neck
vessels arising from the aortic arch. In the first
trimester (FT) specimens intracardiac details could
not be obtained. Sensitive instruments and strong
illumination were used. In the second trimester (ST)
specimens we used the six basic steps to opening the
heart in situ (20). Some malformed hearts required a
customized approach to dissection, to correlate the
defects with ultrasound data.
The autopsy photographic files were obtained
with a Sony DSLR A200 camera (10.2 megapixels),
and with a digital microscope Leica IC80HD camera
(3 megapixels).
New-born data were retrieved from the
clinical hard copy files of all the cases, from the
Neonatology Department.
RESULTS
We identified 114 cases with CHDs. 23 cases
had in the index of the file the AVSD diagnostic. Out
of them, 8 cases were excluded because either there
was no US board confirmation (n=2), or they were
lost to follow-up (n=2) or a post-mortem pathological
examination was not performed (n = 3), or they were
not reliable (n=1). The remaining 15 cases were
analysed. The patient’s personal data, the indication
for the US exam, the GA at the diagnostic, the genetic
exam results, the outcome and the autopsy report
are summarized in Table I.
The echocardiographic features mandatory
for US confirmation (opASD and abnormal
appearance of the AV valves) were detected in all
the cases. For all the cases, colour Doppler was
applied.
Invasive testing followed by conventional KT
was performed in 11 patients and testing for 22q11
was performed in two cases. Confirmation of the
diagnosis was obtained in 4 cases at autopsy.
Postnatal echocardiography was performed in 2
cases.
7 out of the 15 (46.6%) cases were diagnosed
before 14 weeks of gestation and 8 were diagnosed
later. Only one case of pAVSD was diagnosed in the
FT. 5 out of the 7 cases diagnosed in the FT were
detected on routine US examination. Suspicion of
CHD accounted for 20% of the referral indications.
7 cases (46.6%) were isolated. 2 cases had
increased nuchal translucency at the 12-week scan,
and one of them was eventually found to have
microdeletion 22q11. One case developed fetal growth
restriction. One case had a cardiosplenic syndrome
with right atrial isomerism. 6 cases showed an
abnormal conventional KT (one trisomy 18 and 6
cases trisomy 21). No case was associated with
persistent left superior vena cava.
Additional cardiac and extracar diac
anomalies were present 4 (26.66%) and respectively
in 5 (33.3%) cases (Table I).
We had an almost equal distribution in male
and female fetuses (53.3% female fetuses)
Regarding fetal/neonatal outcome, there
were 12 TOPs, one FT spontaneous intrauterine
demise and 2 survivors, both presenting mild to severe
neurodevelopmental delay (at 4 years of age) due to
associated syndromic conditions. Major
neurodevelopmental disorder is present in one of them,
and minor mental retardation was present in the other.
At the time of writing, none of these cases had
undergone surgery.
6 out of 7 early diagnosed cases requested
for TOP. All terminations in this group were prompted
by the diagnosis of the actual anomaly, all couple
decisions being made before the genetic results were
available.
The overall termination rate was 80% and
this figure is very high (considering that 7 cases were
diagnosed before 14 weeks, and other 7 cases before
24 weeks). Only 2 couples elected continuing the
pregnancy.
For all the cases the diagnosis of AVSD was
made by both echocardiographic landmarks: the
opASD and the loss of the normal offset appearance
of the AV valves (inserting in a linear fashion instead
of the normal differential insertion). Colour Doppler
was used to confirm the interventricular shunting and
the atrial shunting.
For easier comparison, we present Figure 1,
where the US features are presented comparative,
in the four-chamber views of the fetal heart (cAVSD,
pAVSD, normal heart)
Obstetrica }i Ginecologia 37
 Atrioventricular septal defect in the fetus

Figure 1. Ultrasound, comparison four-chamber views of the fetal heart.

(a) Complete atrioventricular septal defect at 16+4 weeks of amenorrhea (case 6). Large VSD. Common atrio-ventricular
valve seen. Absent septum primum.
(b) Partial atrioventricular septal defect at 17+3 weeks of amenorrhea (case 11). Common atrio-ventricular valve seen.
Absent septum primum.
(c)Normal heart at 17 weeks of amenorrhea. The integrity of the septum primum component (mark) of the atrial septum
is seen.

Table I. The patient’s personal data, the indication for the US exam, the GA at the diagnostic, the genetic exam results,
the outcome and the autopsy report

38 Obstetrica }i Ginecologia
 Monica Laura Cara

Legend: pAVSD – partial atrioventricular septal defect; cAVSD – complete atrioventricular septal defect; NT – nuchal
translucency; CHD – congenital heart disease; WA – weeks of amenorrhea; KT – karyotype; FT – first trimester; ST –
second trimester; MTOP – medical termination of pregnancy; STOP – surgical termination of pregnancy; LPSk -
labiopalatoschisis; RAA – right aortic arch

From the pathologic point of view, AVSD is
characterized by the disproportion between the inlet
and outlet dimensions of the interventricular septum.
Pathological correspondent, AVSDs are
subdivided into two groups: AV junction guarded by
separ ate right and left AV orifices (opASD,
intermediate AVSDs, or pVSD) and the complete
form (common AV orifice, cAVSD), when the AV
junction is guarded by a common valve. The common
AV valve is composed of five leaflets: the superior
and inferior bridging leaflets, the antero-superior and
the inferior (mural) leaflets on the right side and the
mural leaflet on the left.
We present below (Figure 2) pathological
features in a pAVSD case, in contrast with a matched
for GA normal heart case, adjoining a very explicit
diagram, with our gratitude to Yoo SJ (21).
DISCUSSION
We present our Unit of Prenatal Diagnostic
experience in AVSD in the fetus. In this series we have
reviewed the key echocardiographic and pathological
features of AVSD in the fetus. We also present the
outcome of the case series in our setting.
It is well recognized that the spectrum of CHD
prenatally diagnosed is different from the one postnatally
present (2, 5, 22). More severe cases of CHD are, and
earlier in pregnancy the diagnostic is, more over-
represented in fetal series and worse the prognosis are.

Obstetrica }i Ginecologia 39
 Atrioventricular septal defect in the fetus

Figure 2. Pathology, conventional autopsy, comparison between a normal case (a) and case 11 (b), 18 WA, partial
AVSD
Both hearts seen from the left ventricle after opening the free wall of the left atrium and left ventricle and the mitral
valve leaflets and diagrams showing the same plane (21).
(a)Normal heart. Inlet (red arrow) and outlet (blue arrow) of the left ventricle almost equal.
(b)AVSD: large defect involving the whole atrioventricular septum and adjacent ventricular and atrial septum, short
inlet (red arrow) and elongated outlet (blue arrow) with an inlet–outlet disproportion, and a common atrioventricular
junction.

Our results underline the changing in the GA
at the diagnostic after licensing the authors in prenatal
diagnostic and fetal medicine, as well as the changing
in parental decision making process over the years,
with a general trend towards requesting an earlier
prenatal diagnosis and towards terminations if major
cardiac anomaly suspected/confirmed. These results
may be considered alarming, and it is probable more
common in countries where neonatal and pediatric
cardiac surgery has suboptimal results. We had an
overall termination rate of 80%, much greater than
other reported figures (23). We highlight this reality
in our setting. In our view, this new trend rises many
ethical issues, given the accepted pattern of GA-
dependent functional features of the spectrum of
AVSD and the low rate of informative conventional
autopsies, caused by size restrictions, if TOP
performed in the late FT and early ST.
In our study the association of AVSD with
an abnormal KT is noteworthy, as in many other
reports (13, 24). There were 7 cases of abnormal
KT (46.6%). Our population study is too small to draw

40 Obstetrica }i Ginecologia
 Monica Laura Cara
comparative conclusions. Still, we found the
association with trisomy 21 to the average extent,
with a 33.3% association rate. The finding is
consistent with the results (between 26.53% and 57%
association rates) reported in two large postnatal
series (1, 25). These results are biased by the low
rate of genetic assessment in late diagnosed cases.
This result are also altered by the fact that before
2007 we did not perform invasive manoeuvres on
daily routine.
In r egards to the reported increased
incidence of AVSD in females (11, 24), in our case
series this was not present. We found an almost equal
incidence in male and female fetuses. We have no
explanation for this discordance, beside the fact that
the median GA was lower than in most studies.
Antenatal echocardiographic recognition of
cAVSD is considered to be relatively easy (1, 10),
due to the obvious deficiency of the crux of the heart
in the 4CV, the main plane used for screening. US
diagnosis of pAVSD is much more difficult, because
the modifications of the four-chamber view are more
subtle (26-29) (Figure 1). Despite increasing
resolution over the years of US systems and attempts
to describe new markers (30), the worldwide prenatal
detection does not seem to improve in routine
screening scan (10, 28, 31, 32). Our results also show
that pAVSD was more often overlooked at FT and
mid trimester screening US, especially when isolated.
And it is noteworthy that among the 4 cases of
pAVSD we had 3 cases of confirmed trisomy 21.
These results strengthen the need for using a
comprehensive US technique, in order to exclude the
less evident cardiac defect, due to this association
(13). In the PDU, we obtain the cardiac sweep with
the interventricular septum oblique, approximate at
450 to the ultrasound beam, from the right side of the
thorax, with the fetal spine positioned between the 3-
and 6-o’clock positions, both in late FT and in the ST.
This approach is minimizing the possibility of
shadowing from the ribs or spine and facilitates
obtaining both US main markers.adays high-
resolution probes, if the four-chamber view is assessed
in detail (33, 34), using narrowing the angle beam
and HD zooming, the opASD could be recognized
both on the apical and on the transverse grey-scale
four-chamber view.Our retrospective study refers to
two very different periods by means of US technique
used, before and after 2007. These two periods are
dissimilar in terms of the GA at the diagnostic, invasive
manoeuvres, prenatal genetic diagnosis and
counselling, and also in the outcome. This change is
in direct relation with an upgrade of our PDU in terms
of equipment and education of the members of the
Unit.
After 2007 the GA at diagnosis had a very
clear tendency at lowering, and couples exhibited
more frequent demands for FT TOPs in cases of
major CHD, like AVSD.
6 out of 7 early diagnosed cases requested
for TOP, despite the extensive multidisciplinary
counselling. All the terminations in this group were
prompted by the diagnosis of the actual anomaly, all
the couple decisions were made before the genetic
results were available. So, in these cases, the decision
was made relying on the cardiac defect itself.
In our series there has been a low rate in the
number of fetal autopsies carried out, and this result
is in relation with the number of TOPs after FT scan.
Given the high rate of unreliable conventional
autopsies under 14 weeks (35), this trend lowered
the pathological confirmation figure. This result
underlines the contribution of prenatal diagnosis to
reduction in prevalence of non-lethal congenital
anomalies.
Nowadays, alternative virtual methods (36,
37) of exploring hold promise to became very helpful
when dealing with early diagnosed CHD. Paediatric
cardiologists and pathologists have now the
opportunity to develop knowledge of cardiac anatomy.
This can lead to better techniques for accurate
diagnosis and surgical repair. Unfortunately, their
limited availability at the moment restricts widespread
clinical use. We still use the conventional fetal autopsy
as the gold standard in diagnosis of fetal abnormalities
(38, 39). In our case series, we witnessed some
improvements in the prenatal diagnosis of AVSD, by
means of a decrease in the GA at the diagnosis. The
overall prognosis in AVSD in fetus was significantly
poorer than that reported from surgical series (10,
22). The ever improvement of US systems used in
the prenatal diagnosis, and the fact that FT detailed
Obstetrica }i Ginecologia 41
 Atrioventricular septal defect in the fetus
anomaly scan has reached sufficient technical
maturity and increasingly proved to be safe (40) will
lead to a more widespread application of FT cardiac
scan. The genetic assessment and the detection of
associated cardiac and extracardiac anomalies are
important steps in counselling to the parents, but also,
the complete anatomy and functional assessment (41,
42). This goal may be jeopardized in early terminated
cases.
Nowadays there is extensive proof that the
late FT cardiac scan may suspect/detect many cases
of major car diac anomalies, as cAVSD and
conotruncal anomalies. Our manuscript may highlight
the need to elaborating a FT screening protocol for
major isolated cardiac defects, the need for a
uniformed medical management and the need for
guidelines in counselling after the FT anomaly scan.
ACKNOWLEDGEMENT
The authors would like thank Materna Clinic for
the help in the follow-up process, and the University
Hospital researchers for their contribution in collecting
the data.
DECLARATION OF INTEREST
STATEMENT:
None of the authors have a conflict of interest.
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