Ultrasound Obstet Gynecol 2000; 16: 9899.

Atrioventricular septal defect in a fetus: a false negative

diagnosis in early pregnancy
M. BRONSHTEIN*, S. EGENBURG, R. AUSLANDER and E. Z. ZIMMER*
*Departments of Obstetrics and Gynecology and Cardiac Morphology Laboratory, The Rambam and Carmel, Medical Centers, Technion
Faculty of Medicine, Haifa, Israel

KEY WOR DS : Arterioventricular septal defect, Fetus, Ultrasound, Prenatal diagnosis

INTRODUCTION
Atrioventricular septal defect is a severe cardiac anomaly
which is often associated with trisomy 21. Prenatal
detection of this anomaly is therefore of the utmost
importance. The sonographic features of the defect have
been previously described and there are several reports on
its detection in early stages of gestation1,2. We have
detected 12 cases to date, with the earliest diagnosis
being made at 12 weeks gestation.
We present a case with important medical and medicolegal implications in which a detailed sonographic examination of the fetal heart was normal at 15 weeks'
gestation whereas a repeat ultrasound examination at
20 weeks' gestation revealed a complete atrioventricular
septal defect.

The pregnancy was terminated at the patient's request.

The post-mortem examination revealed an atrioventricular
septal defect with the anterosuperior bridging leaflet
attached to the septum by chordae tendini (Rastelli type
A) (Figure 2). A sonographic examination of the heart
specimen in a water bath showed the atrioventricular
septal defect and the insertion of both atrioventricular
valves at the same horizontal plane in the ventricular mass
as well as absence of the septum primum.

DISCUSSION

C A S E R E P O RT

The in utero diagnosis of an atrioventricular septal defect

relies on the following sonographic markers.
1 Absence of the septum primum.
2 The atrioventricular valves inserting in a linear
fashion instead of the normal differential insertion (this is
mainly observed in Rastelli type A anomaly).

A 34-year-old healthy woman was admitted for a routine

transvaginal ultrasound examination at 15 weeks of
gestation in her first pregnancy. It should be noted that
in Israel routine early fetal sonographic examinations are
frequently performed in low-risk pregnancies. No fetal
malformations were observed. Examination of the fourchamber view of the fetal heart and outlet tracts was
normal. The tricuspid valve was attached to the septal
insertion more apically than the mitral valve, and no defect
was noted in the atrioventricular septum (Figure 1). The
only suspicious finding in the fetus was of hyperechogenic
bowel. A work-up to include the fetal karyotype, cystic
fibrosis and viral infections was therefore suggested.
Amniocentesis revealed a trisomy 21 karyotype. A
repeat ultrasound examination at 20 weeks' gestation
showed a complete atrioventricular septal defect with
both mitral and tricuspid valves lying at the same
horizontal plane in the ventricular mass. In addition
there was no septum primum.

Figure 1 The normal four-chamber view in the affected fetus. Left

and right figures are identical. The offset insertion of the valves is
marked by open arrowheads. The ostium primum is marked by an
asterisk.

Correspondence: E. Z Zimmer MD, Department of Obstetrics and Gynecology, Rambam Medical Center, Haifa, Israel
Received: 4-6-99, Revised: 23-11-99, Accepted: 15-3-00

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C AS E RE P O RT

Atrioventricular septal defect in a fetus

Figure 2 Post-mortem finding of the heart demonstrating a large

common atrioventricular septal defect (C).

3 A large defect (hole) located in the cushion zone of

the atrioventricular septum (this is mainly observed in
Rastelli type C anomaly).
An additional important sonographic sign is the `gooseneck' deformity created by the elongated left ventricular
outflow tract together with the anterosuperior position of
the aortic valve and the apical position of the rim of the
deficient inlet septum. However, this sonographic marker
has only been published in the pediatric literature and has
not yet been described in the fetus3,4.
The reason for our inability to diagnose the atrioventricular septal defect in early pregnancy in this case is
unclear. We can only speculate as to the possible reasons.
Imaging of the offset of the septal insertion of the
atrioventricular valves in the apical four-chamber view is

Ultrasound in Obstetrics and Gynecology

Bronshtein et al.
regarded as a reassuring sign in fetal echocardiography.
However, because atrioventricular septal defects may vary
in size, it is possible that visualization of the fetal heart in a
single apical view is not sufficient to identify the
abnormality. Subsequent to this case we have changed
our method of scanning and now perform serial examinations of the septum primum area in the anteroposterior and
superior inferior directions.
It also is possible that the `normal' insertion of the
atrioventricular valves visualized at 15 weeks was erroneous and was caused by the superimposing of different
anatomical planes. We therefore rescanned the heart
specimen in a water bath after termination of pregnancy
but failed to obtain a `normal' four-chamber view despite
using a variety of scanning planes.
In summary, we do not yet have a convincing explanation for our false negative diagnosis in early pregnancy and
would appreciate suggestions from other readers as to the
possible reasons for the false diagnosis at 15 weeks'
gestation.

R E FE R E NC E S
1 Gembruch U, Knopfle G, Chatterjee M, Bald R, Hansmann M. First
trimester. diagnosis of fetal congenital heart disease by transvaginal
two dimensional and Doppler echocardiography. Obstet Gynecol
1990; 75: 4968
2 Achiron R, Rotstein Z, Lipitz S, Mashiach S, Hegesh J. First
trimester diagnosis of fetal congenital heart disease by transvaginal
ultrasonography. Obstet Gynecol 1994; 84: 6972
3 Silverman NH. Pediatric Echocardiography. Baltimore, MD:
Williams & Wilkins, 1993:14366
4 Perloff JK. The Clinical Recognition of Congenital Heart Disease,
4th edn. Philadelphia: W.B. Saunders Company, 1994: 34971

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