ultrasound diagnosis of fatal anomalies

SELECTED SYNDROMES AND ASSOCIATIONS
(limb): polydactyly, underdeveloped or absent
radius. Many other disorders have been added to
this.
Differential diagnosis: Trisomy 13, trisomy 18,
EEC syndrome, Fanconi anemia, Holt–Oram syndrome,
Nager syndrome, TAR syndrome, Roberts
syndrome, caudal regression syndrome, Jarcho–
Levin syndrome, MURCSassociation, sirenomelia.
Clinical management: Karyotyping (differential
diagnosis). Consultation with a pediatric surgeon
to assess the diagnosis and to inform the
parents. Hydramnios may lead to premature
delivery. There is no advantage in delivering the
mother by cesarean section in comparison with
normal delivery.
Procedure after birth: This depends on the combination
of anomalies. The prognosis is mostly
influenced by the severity of the cardiac
anomaly. If this is treatable, then the next clinical
challenge is the correction of esophageal and
anal atresia.
Prognosis: There is a 75% chance of survival;
mental development is usually normal.
Fig. 11.52 VACTERL association. Frontal view of the
fetal abdominal retroperitoneum at 26 + 0 weeks,
demonstrating the presence of only one renal artery
and only one kidney: unilateral renal agenesis in
VACTERL association.
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Fig. 11.53 VACTERL association. Unilateral umbilical
artery aplasia at 12+6weeks.
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