ultrasound diagnosis of fatal anomalies

TRISOMY 8
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Trisomy 8
Definition: Chromosomal disorder with a tripled
chromosome 8; postnatal diagnosis is usually a
mosaic; patients with pure trisomy 8 are rare.
Incidence: As far as chromosomal aberrations
are concerned, this is quite a frequent anomaly
( 100 cases have been described); overall, it is a
rare disorder.
Clinical history/genetics: The occurrence of
trisomy 8 and trisomy 8 mosaic is relatively
common after chorionic villus sampling. Prognosis
of the disorder, only relating to the
placenta and that of a real fetal mosaicism is uncertain.
Anomalies/ultrasound findings: The clinical
manifestations differ considerably; completely
normal patients have also been described.
Symptoms: overweight, cardiac anomalies, renal
and skeletal malformations, often mild to moderate
mental retardation. Patients with a low
proportion of mosaicism and with normal intelligence
have also been described. In addition: arthrogryposis,
tetra-amelia, high risk of cancer, in
the prenatal stage: thickened nuchal translucency,
dilation of the renal calices.
Differential diagnosis: Syndromes with arthrogryposis.
Prognosis: This is difficult to predict, and depends
on the malformations and the proportion
of pathological cells (affecting mental development).
References
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Trisomy 8 mosaicism in a patient with tetraamelia.
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