ultrasound diagnosis of fatal anomalies

ECTOPIA CORDIS/CANTRELL PENTALOGY
Ectopia Cordis/Cantrell Pentalogy
Definition: The pentalogy of Cantrell consists of
five malformations: ectopia cordis, abdominal
wall defect, sternoschisis, defect of the diaphragm
and of the pericardium.
Incidence: Less than one in 100 000.
First description: Described by James R. Cantrell
in 1958.
Sex ratio: M:F=2:1.
Clinical history/genetics: Sporadic. Sometimes
seen in trisomy 21.
Teratogens: Not known.
Embryology: The pentalogy of Cantrell is due to
disturbance in development of the mesoderm in
the early embryonic stage. This results in failure
of closure of structures such as the diaphragm,
sternum, pericardium, and abdominal wall and
causes protrusion of the heart through this defect.
Associated malformations: Cardiac anomalies
(especially VSD, ASD, pulmonary stenosis, tetralogy
of Fallot), neural tube defects, omphalocele,
gastroschisis, malformation of the extremities
and caudal regression are the most frequently
associated malformations.
Ultrasound findings: In the thoracic form, the
sternum is split, the heart lying in front of the
thorax and the cardiac apex pointing cranially.
The thoracic cavity is small. In the thoracicoabdominal
form, the defect lies further caudal
and there is frequently also an omphalocele,
which may even be ruptured. This is often accompanied
by evisceration of the liver, stomach
and intestines (laparoschisis).
Differential diagnosis: Amnion band sequence,
chromosomal aberrations, “limb–body stalk”
abnormality.
Clinical management: After the condition is confirmed,
further diagnostic evaluation does not
change the prognosis. If the mother decides to
continue with the pregnancy, karyotyping
should be advised.
Procedure after birth: If surgical correction is
considered, then the findings should be evaluated
by specialists already in the prenatal stage.
Prognosis: Surgical correction is possible only in
very mild forms. The full-blown form of the pentalogy
of Cantrell is fatal.
Fig. 5.13 Ectopia cordis. Longitudinal section,
19+2weeks.Theliverandbowelhaveherniated
through a defect in the anterior abdominal wall. The
fetal heart (arrow) is partlydisplaced into the abdomen
through a diaphragmatic hernia.
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