ultrasound diagnosis of fatal anomalies

SELECTED SYNDROMES AND ASSOCIATIONS
Koontz WL, Shaw LA, Lavery JP. Antenatal sonographic
appearance of Beckwith–Wiedemann syndrome.
JCU J Clin Ultrasound 1986; 14: 57–9.
Nowotny T, Bollmann R, Pfeifer L, Windt E. Beckwith–
Wiedemann syndrome: difficulties with prenatal diagnosis.
Fetal Diagn Ther 1994; 9: 256–60.
Reish O, Lerer I, Amiel A, et al. Wiedemann–Beckwith
syndrome: further prenatal characterization of the
condition [review]. Am J Med Genet 2002; 107: 209–
13.
Shah YG, Metlay L. Prenatal ultrasound diagnosis of
Beckwith–Wiedemann syndrome. J Clin Ultrasound
1990; 18: 597–600.
Viljoen DL, Jaquire Z, Woods DL. Prenatal diagnosis in
autosomal-dominant Beckwith–Wiedemann syndrome.
Prenat Diagn 1991; 11: 167–75.
Whisson CC, Whyte A, Ziesing P Beckwith–Wiedemann
syndrome: antenatal diagnosis. Australas Radiol
1994; 38: 130–1.
Winter SC, Curry CJ, Smith JC, Kassel S, Miller L, Andrea J.
Prenatal diagnosis of the Beckwith–Wiedemann
syndrome. Am J Med Genet 1986; 24: 137–41.
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Body Stalk Anomaly
Definition: A fatal malformation, probably resulting
from early rupture of the amnion. At least
two of three malformations must be present as
diagnostic criteria: myelomeningocele or caudal
regression syndrome, thoraco-abdominoschisis
or abdominoschisis, anomalies of the extremities.
Incidence: One in 14 000 births.
Clinical history: Sporadic occurrence.
Teratogen: Not known.
Fig. 11.6 Body stalk anomaly. Longitudinal section
ofthelowertorsoat9+3weeks,withanextensive
omphalocele-like structure.
Origin: Early developmental disturbances in the
embryonic stage due to early amnion rupture
have been discussed as a possible cause. Part of
the embryo may be found in the celom.
Ultrasound findings: Following are characteristic
findings: large abdominal wall defects, severe
neural tube defects, extreme kyphoscoliosis with
shortening of the vertebral column and caudal
regression syndrome. A typical feature is an absence
of one or more extremities. Club foot may
also be present. Meningomyelocele may be associated
with Arnold–Chiari malformation and
development of hydrocephalus. Ectopia cordis
may result from thoraco-abdominoschisis. In
addition, facial clefts are observed. In extreme
cases, the umbilical cord may even be absent, the
fetus being joined directly to the placenta. Increased
nuchal translucency is also a typical feature.
Clinical management: Karyotyping to evaluate
the risk of recurrence (translocation?). Determination
of the extent of malformations for further
prognosis. Termination of pregnancy is justified
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